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Home
About Us
Research
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Dr. Robert Brown
Faculty
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HSAN1 Symposium 2022
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Publications
Total:
displaying 25 out of
193
results
Paramagnetic Rim Lesions are Highly Specific for Multiple Sclerosis in Real-World Data
lunes, octubre 07, 2024
Author(s):
Christopher C Hemond,Sathish K Dundamadappa,Mugdha Deshpande,Jonggyu Baek,Robert H Brown,Carolina Ionete,Daniel S Reich
Source:
medRxiv : the preprint server for health sciences
Gene therapy for neurologic disorders
miércoles, septiembre 25, 2024
Author(s):
Florian S Eichler,Robert H Brown
Source:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs
jueves, septiembre 05, 2024
Author(s):
James W Gilbert,Zachary Kennedy,Bruno M D C Godinho,Ashley Summers,Alexandra Weiss,Dimas Echeverria,Brianna Bramato,Nicholas McHugh,David Cooper,Ken Yamada,Matthew Hassler,Hélène Tran,Fen Biao Gao,Robert H Brown,Anastasia Khvorova
Source:
Molecular therapy. Nucleic acids
RNAi-mediated silencing of SOD1 profoundly extends survival and functional outcomes in ALS mice
martes, julio 09, 2024
Author(s):
Alexandra Weiss,James W Gilbert,Iris Valeria Rivera Flores,Jillian Belgrad,Chantal Ferguson,Elif O Dogan,Nicholas Wightman,Kit Mocarski,Dimas Echeverria,Ashley Summers,Brianna Bramato,Nicholas McHugh,Raymond Furgal,Nozomi Yamada,David Cooper,Kathryn Monopoli,Bruno M D C Godinho,Matthew R Hassler,Ken Yamada,Paul Greer,Nils Henninger,Robert H Brown,Anastasia Khvorova
Source:
bioRxiv : the preprint server for biology
Debamestrocel multimodal effects on biomarker pathways in amyotrophic lateral sclerosis are linked to clinical outcomes
martes, abril 09, 2024
Author(s):
Stacy R Lindborg,Namita A Goyal,Jonathan Katz,Matthew Burford,Jenny Li,Haggai Kaspi,Natalie Abramov,Bruno Boulanger,James D Berry,Katharine Nicholson,Tahseen Mozaffar,Robert Miller,Liberty Jenkins,Robert H Baloh,Richard Lewis,Nathan P Staff,Margaret Ayo Owegi,Bob Dagher,Netta R Blondheim-Shraga,Yael Gothelf,Yossef S Levy,Ralph Kern,Revital Aricha,Anthony J Windebank,Robert Bowser,Robert H Brown,Merit E Cudkowicz
Source:
Muscle & nerve
Evaluating protein cross-linking as a therapeutic strategy to stabilize SOD1 variants in a mouse model of familial ALS
martes, enero 30, 2024
Author(s):
Md Amin Hossain,Richa Sarin,Daniel P Donnelly,Brandon C Miller,Alexandra Weiss,Luke McAlary,Svetlana V Antonyuk,Joseph P Salisbury,Jakal Amin,Jeremy B Conway,Samantha S Watson,Jenifer N Winters,Yu Xu,Novera Alam,Rutali R Brahme,Haneyeh Shahbazian,Durgalakshmi Sivasankar,Swathi Padmakumar,Aziza Sattarova,Aparna C Ponmudiyan,Tanvi Gawde,David E Verrill,Wensheng Yang,Sunanda Kannapadi,Leigh D Plant,Jared R Auclair,Lee Makowski,Gregory A Petsko,Dagmar Ringe,Nathalie Y R Agar,David J Greenblatt,Mary Jo Ondrechen,Yunqiu Chen,Justin J Yerbury,Roman Manetsch,S Samar Hasnain,Robert H Brown,Jeffrey N Agar
Source:
PLoS biology
Genetic ablation of Sarm1 attenuates expression and mislocalization of phosphorylated TDP-43 after mouse repetitive traumatic brain injury
jueves, diciembre 21, 2023
Author(s):
Elif O Dogan,James Bouley,Jianjun Zhong,Ashley L Harkins,Allison M Keeler,Daryl A Bosco,Robert H Brown,Nils Henninger
Source:
Acta neuropathologica communications
Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo
martes, septiembre 26, 2023
Author(s):
Gabriela Toro Cabrera,Katharina E Meijboom,Abbas Abdallah,Helene Tran,Zachariah Foster,Alexandra Weiss,Nicholas Wightman,Rachel Stock,Tania Gendron,Alisha Gruntman,Anthony Giampetruzzi,Leonard Petrucelli,Robert H Brown,Christian Mueller
Source:
Gene therapy
Amyotrophic lateral sclerosis
jueves, agosto 24, 2023
Author(s):
David S Younger,Robert H Brown
Source:
Handbook of clinical neurology
Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice
martes, agosto 01, 2023
Author(s):
Aydan Kahriman,James Bouley,Idil Tuncali,Elif O Dogan,Mariana Pereira,Thuyvan Luu,Daryl A Bosco,Samer Jaber,Owen M Peters,Robert H Brown,Nils Henninger
Source:
Brain : a journal of neurology
Design and Statistical Innovations in a Platform Trial for Amyotrophic Lateral Sclerosis
domingo, mayo 28, 2023
Author(s):
Melanie Quintana,Benjamin R Saville,Matteo Vestrucci,Michelle A Detry,Lori Chibnik,Jeremy Shefner,James D Berry,Marianne Chase,Jinsy Andrews,Alexander V Sherman,Hong Yu,Kristin Drake,Merit Cudkowicz,Sabrina Paganoni,Eric A Macklin,HEALEY ALS Platform Trial Study Group
Source:
Annals of neurology
Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery
martes, abril 04, 2023
Author(s):
Huiya Yang,Robert H Brown,Dan Wang,Kevin A Strauss,Guangping Gao
Source:
JCI insight
Anti-SOD1 Nanobodies That Stabilize Misfolded SOD1 Proteins Also Promote Neurite Outgrowth in Mutant SOD1 Human Neurons
viernes, diciembre 23, 2022
Author(s):
Meenakshi Sundaram Kumar,Megan E Fowler-Magaw,Daniel Kulick,Sivakumar Boopathy,Del Hayden Gadd,Melissa Rotunno,Catherine Douthwright,Diane Golebiowski,Issa Yusuf,Zuoshang Xu,Robert H Brown,Miguel Sena-Esteves,Alison L O'Neil,Daryl A Bosco
Source:
International journal of molecular sciences
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS
viernes, abril 01, 2022
Author(s):
Chen Eitan,Aviad Siany,Elad Barkan,Tsviya Olender,Kristel R van Eijk,Matthieu Moisse,Sali M K Farhan,Yehuda M Danino,Eran Yanowski,Hagai Marmor-Kollet,Natalia Rivkin,Nancy Sarah Yacovzada,Shu-Ting Hung,Johnathan Cooper-Knock,Chien-Hsiung Yu,Cynthia Louis,Seth L Masters,Kevin P Kenna,Rick A A van der Spek,William Sproviero,Ahmad Al Khleifat,Alfredo Iacoangeli,Aleksey Shatunov,Ashley R Jones,Yael Elbaz-Alon,Yahel Cohen,Elik Chapnik,Daphna Rothschild,Omer Weissbrod,Gilad Beck,Elena Ainbinder,Shifra Ben-Dor,Sebastian Werneburg,Dorothy P Schafer,Robert H Brown,Pamela J Shaw,Philip Van Damme,Leonard H van den Berg,Hemali Phatnani,Eran Segal,Justin K Ichida,Ammar Al-Chalabi,Jan H Veldink,Project MinE ALS Sequencing Consortium,NYGC ALS Consortium,Eran Hornstein
Source:
Nature neuroscience
Imaging Net Retrograde Axonal Transport In Vivo: A Physiological Biomarker
viernes, febrero 18, 2022
Author(s):
Pin-Tsun Justin Lee,Zachary Kennedy,Yuzhen Wang,Yimeng Lu,Carolina Cefaliello,Özgün Uyan,Chun-Qing Song,Bruno Miguel da Cruz Godinho,Zuoshang Xu,Mary Rusckowski,Wen Xue,Robert H Brown
Source:
Annals of neurology
AAV gene therapy for Tay-Sachs disease
viernes, febrero 11, 2022
Author(s):
Terence R Flotte,Oguz Cataltepe,Ajit Puri,Ana Rita Batista,Richard Moser,Diane McKenna-Yasek,Catherine Douthwright,Gwladys Gernoux,Meghan Blackwood,Christian Mueller,Phillip W L Tai,Xuntian Jiang,Scot Bateman,Spiro G Spanakis,Julia Parzych,Allison M Keeler,Aly Abayazeed,Saurabh Rohatgi,Laura Gibson,Robert Finberg,Bruce A Barton,Zeynep Vardar,Mohammed Salman Shazeeb,Matthew Gounis,Cynthia J Tifft,Florian S Eichler,Robert H Brown,Douglas R Martin,Heather L Gray-Edwards,Miguel Sena-Esteves
Source:
Nature medicine
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
martes, febrero 01, 2022
Author(s):
Wouter van Rheenen,Rick A A van der Spek,Mark K Bakker,Joke J F A van Vugt,Paul J Hop,Ramona A J Zwamborn,Niek de Klein,Harm-Jan Westra,Olivier B Bakker,Patrick Deelen,Gemma Shireby,Eilis Hannon,Matthieu Moisse,Denis Baird,Restuadi Restuadi,Egor Dolzhenko,Annelot M Dekker,Klara Gawor,Henk-Jan Westeneng,Gijs H P Tazelaar,Kristel R van Eijk,Maarten Kooyman,Ross P Byrne,Mark Doherty,Mark Heverin,Ahmad Al Khleifat,Alfredo Iacoangeli,Aleksey Shatunov,Nicola Ticozzi,Johnathan Cooper-Knock,Bradley N Smith,Marta Gromicho,Siddharthan Chandran,Suvankar Pal,Karen E Morrison,Pamela J Shaw,John Hardy,Richard W Orrell,Michael Sendtner,Thomas Meyer,Nazli Başak,Anneke J van der Kooi,Antonia Ratti,Isabella Fogh,Cinzia Gellera,Giuseppe Lauria,Stefania Corti,Cristina Cereda,Daisy Sproviero,Sandra D'Alfonso,Gianni Sorarù,Gabriele Siciliano,Massimiliano Filosto,Alessandro Padovani,Adriano Chiò,Andrea Calvo,Cristina Moglia,Maura Brunetti,Antonio Canosa,Maurizio Grassano,Ettore Beghi,Elisabetta Pupillo,Giancarlo Logroscino,Beatrice Nefussy,Alma Osmanovic,Angelica Nordin,Yossef Lerner,Michal Zabari,Marc Gotkine,Robert H Baloh,Shaughn Bell,Patrick Vourc'h,Philippe Corcia,Philippe Couratier,Stéphanie Millecamps,Vincent Meininger,François Salachas,Jesus S Mora Pardina,Abdelilah Assialioui,Ricardo Rojas-García,Patrick A Dion,Jay P Ross,Albert C Ludolph,Jochen H Weishaupt,David Brenner,Axel Freischmidt,Gilbert Bensimon,Alexis Brice,Alexandra Durr,Christine A M Payan,Safa Saker-Delye,Nicholas W Wood,Simon Topp,Rosa Rademakers,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Stephan Ripke,Alice Braun,Julia Kraft,David C Whiteman,Catherine M Olsen,Andre G Uitterlinden,Albert Hofman,Marcella Rietschel,Sven Cichon,Markus M Nöthen,Philippe Amouyel,SLALOM Consortium,PARALS Consortium,SLAGEN Consortium,SLAP Consortium,Bryan J Traynor,Andrew B Singleton,Miguel Mitne Neto,Ruben J Cauchi,Roel A Ophoff,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M van Deerlin,Julian Grosskreutz,Annekathrin Roediger,Nayana Gaur,Alexander Jörk,Tabea Barthel,Erik Theele,Benjamin Ilse,Beatrice Stubendorff,Otto W Witte,Robert Steinbach,Christian A Hübner,Caroline Graff,Lev Brylev,Vera Fominykh,Vera Demeshonok,Anastasia Ataulina,Boris Rogelj,Blaž Koritnik,Janez Zidar,Metka Ravnik-Glavač,Damjan Glavač,Zorica Stević,Vivian Drory,Monica Povedano,Ian P Blair,Matthew C Kiernan,Beben Benyamin,Robert D Henderson,Sarah Furlong,Susan Mathers,Pamela A McCombe,Merrilee Needham,Shyuan T Ngo,Garth A Nicholson,Roger Pamphlett,Dominic B Rowe,Frederik J Steyn,Kelly L Williams,Karen A Mather,Perminder S Sachdev,Anjali K Henders,Leanne Wallace,Mamede de Carvalho,Susana Pinto,Susanne Petri,Markus Weber,Guy A Rouleau,Vincenzo Silani,Charles J Curtis,Gerome Breen,Jonathan D Glass,Robert H Brown,John E Landers,Christopher E Shaw,Peter M Andersen,Ewout J N Groen,Michael A van Es,R Jeroen Pasterkamp,Dongsheng Fan,Fleur C Garton,Allan F McRae,George Davey Smith,Tom R Gaunt,Michael A Eberle,Jonathan Mill,Russell L McLaughlin,Orla Hardiman,Kevin P Kenna,Naomi R Wray,Ellen Tsai,Heiko Runz,Lude Franke,Ammar Al-Chalabi,Philip Van Damme,Leonard H van den Berg,Jan H Veldink
Source:
Nature genetics
Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide
viernes, diciembre 24, 2021
Author(s):
Hélène Tran,Michael P Moazami,Huiya Yang,Diane McKenna-Yasek,Catherine L Douthwright,Courtney Pinto,Jake Metterville,Minwook Shin,Nitasha Sanil,Craig Dooley,Ajit Puri,Alexandra Weiss,Nicholas Wightman,Heather Gray-Edwards,Miklos Marosfoi,Robert M King,Thomas Kenderdine,Daniele Fabris,Robert Bowser,Jonathan K Watts,Robert H Brown
Source:
Nature medicine
Adaptive Platform Trials to Transform Amyotrophic Lateral Sclerosis Therapy Development
miércoles, diciembre 22, 2021
Author(s):
Sabrina Paganoni,James D Berry,Melanie Quintana,Eric Macklin,Benjamin R Saville,Michelle A Detry,Marianne Chase,Alexander V Sherman,Hong Yu,Kristin Drake,Jinsy Andrews,Jeremy Shefner,Lori B Chibnik,Matteo Vestrucci,Merit E Cudkowicz,Healey ALS Platform Trial Study Group
Source:
Annals of neurology
A randomized placebo-controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis
viernes, diciembre 10, 2021
Author(s):
Merit E Cudkowicz,Stacy R Lindborg,Namita A Goyal,Robert G Miller,Matthew J Burford,James D Berry,Katharine A Nicholson,Tahseen Mozaffar,Jonathan S Katz,Liberty J Jenkins,Robert H Baloh,Richard A Lewis,Nathan P Staff,Margaret A Owegi,Donald A Berry,Yael Gothelf,Yossef S Levy,Revital Aricha,Ralph Z Kern,Anthony J Windebank,Robert H Brown
Source:
Muscle & nerve
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
martes, diciembre 07, 2021
Author(s):
Wouter van Rheenen,Rick A A van der Spek,Mark K Bakker,Joke J F A van Vugt,Paul J Hop,Ramona A J Zwamborn,Niek de Klein,Harm-Jan Westra,Olivier B Bakker,Patrick Deelen,Gemma Shireby,Eilis Hannon,Matthieu Moisse,Denis Baird,Restuadi Restuadi,Egor Dolzhenko,Annelot M Dekker,Klara Gawor,Henk-Jan Westeneng,Gijs H P Tazelaar,Kristel R van Eijk,Maarten Kooyman,Ross P Byrne,Mark Doherty,Mark Heverin,Ahmad Al Khleifat,Alfredo Iacoangeli,Aleksey Shatunov,Nicola Ticozzi,Johnathan Cooper-Knock,Bradley N Smith,Marta Gromicho,Siddharthan Chandran,Suvankar Pal,Karen E Morrison,Pamela J Shaw,John Hardy,Richard W Orrell,Michael Sendtner,Thomas Meyer,Nazli Başak,Anneke J van der Kooi,Antonia Ratti,Isabella Fogh,Cinzia Gellera,Giuseppe Lauria,Stefania Corti,Cristina Cereda,Daisy Sproviero,Sandra D'Alfonso,Gianni Sorarù,Gabriele Siciliano,Massimiliano Filosto,Alessandro Padovani,Adriano Chiò,Andrea Calvo,Cristina Moglia,Maura Brunetti,Antonio Canosa,Maurizio Grassano,Ettore Beghi,Elisabetta Pupillo,Giancarlo Logroscino,Beatrice Nefussy,Alma Osmanovic,Angelica Nordin,Yossef Lerner,Michal Zabari,Marc Gotkine,Robert H Baloh,Shaughn Bell,Patrick Vourc'h,Philippe Corcia,Philippe Couratier,Stéphanie Millecamps,Vincent Meininger,François Salachas,Jesus S Mora Pardina,Abdelilah Assialioui,Ricardo Rojas-García,Patrick A Dion,Jay P Ross,Albert C Ludolph,Jochen H Weishaupt,David Brenner,Axel Freischmidt,Gilbert Bensimon,Alexis Brice,Alexandra Durr,Christine A M Payan,Safa Saker-Delye,Nicholas W Wood,Simon Topp,Rosa Rademakers,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Stephan Ripke,Alice Braun,Julia Kraft,David C Whiteman,Catherine M Olsen,Andre G Uitterlinden,Albert Hofman,Marcella Rietschel,Sven Cichon,Markus M Nöthen,Philippe Amouyel,SLALOM Consortium,PARALS Consortium,SLAGEN Consortium,SLAP Consortium,Bryan J Traynor,Andrew B Singleton,Miguel Mitne Neto,Ruben J Cauchi,Roel A Ophoff,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M van Deerlin,Julian Grosskreutz,Annekathrin Roediger,Nayana Gaur,Alexander Jörk,Tabea Barthel,Erik Theele,Benjamin Ilse,Beatrice Stubendorff,Otto W Witte,Robert Steinbach,Christian A Hübner,Caroline Graff,Lev Brylev,Vera Fominykh,Vera Demeshonok,Anastasia Ataulina,Boris Rogelj,Blaž Koritnik,Janez Zidar,Metka Ravnik-Glavač,Damjan Glavač,Zorica Stević,Vivian Drory,Monica Povedano,Ian P Blair,Matthew C Kiernan,Beben Benyamin,Robert D Henderson,Sarah Furlong,Susan Mathers,Pamela A McCombe,Merrilee Needham,Shyuan T Ngo,Garth A Nicholson,Roger Pamphlett,Dominic B Rowe,Frederik J Steyn,Kelly L Williams,Karen A Mather,Perminder S Sachdev,Anjali K Henders,Leanne Wallace,Mamede de Carvalho,Susana Pinto,Susanne Petri,Markus Weber,Guy A Rouleau,Vincenzo Silani,Charles J Curtis,Gerome Breen,Jonathan D Glass,Robert H Brown,John E Landers,Christopher E Shaw,Peter M Andersen,Ewout J N Groen,Michael A van Es,R Jeroen Pasterkamp,Dongsheng Fan,Fleur C Garton,Allan F McRae,George Davey Smith,Tom R Gaunt,Michael A Eberle,Jonathan Mill,Russell L McLaughlin,Orla Hardiman,Kevin P Kenna,Naomi R Wray,Ellen Tsai,Heiko Runz,Lude Franke,Ammar Al-Chalabi,Philip Van Damme,Leonard H van den Berg,Jan H Veldink
Source:
Nature genetics
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
lunes, agosto 30, 2021
Author(s):
Janel O Johnson,Ruth Chia,Danny E Miller,Rachel Li,Ravindran Kumaran,Yevgeniya Abramzon,Nada Alahmady,Alan E Renton,Simon D Topp,J Raphael Gibbs,Mark R Cookson,Marya S Sabir,Clifton L Dalgard,Claire Troakes,Ashley R Jones,Aleksey Shatunov,Alfredo Iacoangeli,Ahmad Al Khleifat,Nicola Ticozzi,Vincenzo Silani,Cinzia Gellera,Ian P Blair,Carol Dobson-Stone,John B Kwok,Emily S Bonkowski,Robin Palvadeau,Pentti J Tienari,Karen E Morrison,Pamela J Shaw,Ammar Al-Chalabi,Robert H Brown,Andrea Calvo,Gabriele Mora,Hind Al-Saif,Marc Gotkine,Fawn Leigh,Irene J Chang,Seth J Perlman,Ian Glass,Anna I Scott,Christopher E Shaw,A Nazli Basak,John E Landers,Adriano Chiò,Thomas O Crawford,Bradley N Smith,Bryan J Traynor,FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium,Bradley N Smith,Nicola Ticozzi,Claudia Fallini,Athina Soragia Gkazi,Simon D Topp,Emma L Scotter,Kevin P Kenna,Pamela Keagle,Cinzia Tiloca,Caroline Vance,Claire Troakes,Claudia Colombrita,Andrew King,Viviana Pensato,Barbara Castellotti,Frank Baas,Anneloor L M A Ten Asbroek,Diane McKenna-Yasek,Russell L McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban-Pérez,Zorica Stevic,Sandra D'Alfonso,Letizia Mazzini,Giacomo P Comi,Roberto Del Bo,Mauro Ceroni,Stella Gagliardi,Giorgia Querin,Cinzia Bertolin,Wouter van Rheenen,Rosa Rademakers,Marka van Blitterswijk,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Gianni Sorarù,Kelly L Williams,Garth A Nicholson,Ian P Blair,Claire Leblond-Manry,Guy A Rouleau,Orla Hardiman,Karen E Morrison,Jan H Veldink,Leonard H van den Berg,Ammar Al-Chalabi,Hardev Pall,Pamela J Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Alberto García-Redondo,Zheyang Wu,Jonathan D Glass,Cinzia Gellera,Antonia Ratti,Robert H Brown,Vincenzo Silani,Christopher E Shaw,John E Landers,Clifton L Dalgard,Adelani Adeleye,Anthony R Soltis,Camille Alba,Coralie Viollet,Dagmar Bacikova,Daniel N Hupalo,Gauthaman Sukumar,Harvey B Pollard,Matthew D Wilkerson,Elisa McGrath Martinez,Yevgeniya Abramzon,Sarah Ahmed,Sampath Arepalli,Robert H Baloh,Robert Bowser,Christopher B Brady,Alexis Brice,James Broach,Roy H Campbell,William Camu,Ruth Chia,John Cooper-Knock,Jinhui Ding,Carsten Drepper,Vivian E Drory,Travis L Dunckley,John D Eicher,Bryce K England,Faraz Faghri,Eva Feldman,Mary Kay Floeter,Pietro Fratta,Joshua T Geiger,Glenn Gerhard,J Raphael Gibbs,Summer B Gibson,Jonathan D Glass,John Hardy,Matthew B Harms,Terry D Heiman-Patterson,Dena G Hernandez,Lilja Jansson,Janine Kirby,Neil W Kowall,Hannu Laaksovirta,Natalie Landeck,Francesco Landi,Isabelle Le Ber,Serge Lumbroso,Daniel J L MacGowan,Nicholas J Maragakis,Gabriele Mora,Kevin Mouzat,Natalie A Murphy,Liisa Myllykangas,Mike A Nalls,Richard W Orrell,Lyle W Ostrow,Roger Pamphlett,Stuart Pickering-Brown,Erik P Pioro,Olga Pletnikova,Hannah A Pliner,Stefan M Pulst,John M Ravits,Alan E Renton,Alberto Rivera,Wim Robberecht,Ekaterina Rogaeva,Sara Rollinson,Jeffrey D Rothstein,Sonja W Scholz,Michael Sendtner,Pamela J Shaw,Katie C Sidle,Zachary Simmons,Andrew B Singleton,Nathan Smith,David J Stone,Pentti J Tienari,Juan C Troncoso,Miko Valori,Philip Van Damme,Vivianna M Van Deerlin,Ludo Van Den Bosch,Lorne Zinman,John E Landers,Adriano Chiò,Bryan J Traynor,Stefania M Angelocola,Francesco P Ausiello,Marco Barberis,Ilaria Bartolomei,Stefania Battistini,Enrica Bersano,Giulia Bisogni,Giuseppe Borghero,Maura Brunetti,Corrado Cabona,Andrea Calvo,Fabrizio Canale,Antonio Canosa,Teresa A Cantisani,Margherita Capasso,Claudia Caponnetto,Patrizio Cardinali,Paola Carrera,Federico Casale,Adriano Chiò,Tiziana Colletti,Francesca L Conforti,Amelia Conte,Elisa Conti,Massimo Corbo,Stefania Cuccu,Eleonora Dalla Bella,Eustachio D'Errico,Giovanni DeMarco,Raffaele Dubbioso,Carlo Ferrarese,Pilar M Ferraro,Massimo Filippi,Nicola Fini,Gianluca Floris,Giuseppe Fuda,Salvatore Gallone,Giulia Gianferrari,Fabio Giannini,Maurizio Grassano,Lucia Greco,Barbara Iazzolino,Alessandro Introna,Vincenzo La Bella,Serena Lattante,Giuseppe Lauria,Rocco Liguori,Giancarlo Logroscino,Francesco O Logullo,Christian Lunetta,Paola Mandich,Jessica Mandrioli,Umberto Manera,Fiore Manganelli,Giuseppe Marangi,Kalliopi Marinou,Maria Giovanna Marrosu,Ilaria Martinelli,Sonia Messina,Cristina Moglia,Gabriele Mora,Lorena Mosca,Maria R Murru,Paola Origone,Carla Passaniti,Cristina Petrelli,Antonio Petrucci,Susanna Pozzi,Maura Pugliatti,Angelo Quattrini,Claudia Ricci,Giulia Riolo,Nilo Riva,Massimo Russo,Mario Sabatelli,Paolina Salamone,Marco Salivetto,Fabrizio Salvi,Marialuisa Santarelli,Luca Sbaiz,Riccardo Sideri,Isabella Simone,Cecilia Simonini,Rossella Spataro,Raffaella Tanel,Gioacchino Tedeschi,Anna Ticca,Antonella Torriello,Stefania Tranquilli,Lucio Tremolizzo,Francesca Trojsi,Rosario Vasta,Veria Vacchiano,Giuseppe Vita,Paolo Volanti,Marcella Zollino,Elisabetta Zucchi
Source:
JAMA neurology
BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model
miércoles, marzo 17, 2021
Author(s):
Esteban Quezada,Claudio Cappelli,Iván Diaz,Nur Jury,Nicholas Wightman,Robert H Brown,Martín Montecino,Brigitte van Zundert
Source:
Clinical epigenetics
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies
domingo, marzo 14, 2021
Author(s):
Huiya Yang,Robert H Brown,Dan Wang,Kevin A Strauss,Guangping Gao
Source:
Trends in molecular medicine
Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models
martes, febrero 09, 2021
Author(s):
Yuanjing Liu,Jean-Cosme Dodart,Helene Tran,Shaunna Berkovitch,Maurine Braun,Michael Byrne,Ann F Durbin,Xiao Shelley Hu,Naoki Iwamoto,Hyun Gyung Jang,Pachamuthu Kandasamy,Fangjun Liu,Kenneth Longo,Jörg Ruschel,Juili Shelke,Hailin Yang,Yuan Yin,Amy Donner,Zhong Zhong,Chandra Vargeese,Robert H Brown
Source:
Nature communications
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
jueves, noviembre 26, 2020
Author(s):
Ramita Dewan,Ruth Chia,Jinhui Ding,Richard A Hickman,Thor D Stein,Yevgeniya Abramzon,Sarah Ahmed,Marya S Sabir,Makayla K Portley,Arianna Tucci,Kristina Ibáñez,F N U Shankaracharya,Pamela Keagle,Giacomina Rossi,Paola Caroppo,Fabrizio Tagliavini,Maria L Waldo,Per M Johansson,Christer F Nilsson,American Genome Center (TAGC),FALS Sequencing Consortium,Genomics England Research Consortium,International ALS/FTD Genomics Consortium (iAFGC),International FTD Genetics Consortium (IFGC),International LBD Genomics Consortium (iLBDGC),NYGC ALS Consortium,PROSPECT Consortium,James B Rowe,Luisa Benussi,Giuliano Binetti,Roberta Ghidoni,Edwin Jabbari,Coralie Viollet,Jonathan D Glass,Andrew B Singleton,Vincenzo Silani,Owen A Ross,Mina Ryten,Ali Torkamani,Toshiko Tanaka,Luigi Ferrucci,Susan M Resnick,Stuart Pickering-Brown,Christopher B Brady,Neil Kowal,John A Hardy,Vivianna Van Deerlin,Jean Paul Vonsattel,Matthew B Harms,Huw R Morris,Raffaele Ferrari,John E Landers,Adriano Chiò,J Raphael Gibbs,Clifton L Dalgard,Sonja W Scholz,Bryan J Traynor
Source:
Neuron
Amyotrophic Lateral Sclerosis: Fuel for the Corticofugal Feud
lunes, agosto 03, 2020
Author(s):
Brian J Wainger,Robert H Brown
Source:
Annals of neurology
SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS
jueves, julio 09, 2020
Author(s):
Christian Mueller,James D Berry,Diane M McKenna-Yasek,Gwladys Gernoux,Margaret A Owegi,Lindsay M Pothier,Catherine L Douthwright,Dario Gelevski,Sarah D Luppino,Meghan Blackwood,Nicholas S Wightman,Derek H Oakley,Matthew P Frosch,Terrence R Flotte,Merit E Cudkowicz,Robert H Brown
Source:
The New England journal of medicine
Longitudinal biomarkers in amyotrophic lateral sclerosis
miércoles, junio 10, 2020
Author(s):
Fen Huang,Yuda Zhu,Jennifer Hsiao-Nakamoto,Xinyan Tang,Jason C Dugas,Miriam Moscovitch-Lopatin,Jonathan D Glass,Robert H Brown,Shafeeq S Ladha,David Lacomis,Jeffrey M Harris,Kimberly Scearce-Levie,Carole Ho,Robert Bowser,James D Berry
Source:
Annals of clinical and translational neurology
Intralingual and Intrapleural AAV Gene Therapy Prolongs Survival in a SOD1 ALS Mouse Model
viernes, enero 24, 2020
Author(s):
Allison M Keeler,Marina Zieger,Carson Semple,Logan Pucci,Alessandra Veinbachs,Robert H Brown,Christian Mueller,Mai K ElMallah
Source:
Molecular therapy. Methods & clinical development
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
viernes, diciembre 20, 2019
Author(s):
Irit Reichenstein,Chen Eitan,Sandra Diaz-Garcia,Guy Haim,Iddo Magen,Aviad Siany,Mariah L Hoye,Natali Rivkin,Tsviya Olender,Beata Toth,Revital Ravid,Amitai D Mandelbaum,Eran Yanowski,Jing Liang,Jeffrey K Rymer,Rivka Levy,Gilad Beck,Elena Ainbinder,Sali M K Farhan,Kimberly A Lennox,Nicole M Bode,Mark A Behlke,Thomas Möller,Smita Saxena,Cristiane A M Moreno,Giancarlo Costaguta,Kristel R van Eijk,Hemali Phatnani,Ammar Al-Chalabi,A Nazli Başak,Leonard H van den Berg,Orla Hardiman,John E Landers,Jesus S Mora,Karen E Morrison,Pamela J Shaw,Jan H Veldink,Samuel L Pfaff,Ofer Yizhar,Christina Gross,Robert H Brown,John M Ravits,Matthew B Harms,Timothy M Miller,Eran Hornstein
Source:
Science translational medicine
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
viernes, abril 26, 2019
Author(s):
Janice A Dominov,Özgün Uyan,Diane McKenna-Yasek,Babi Ramesh Reddy Nallamilli,Virginie Kergourlay,Marc Bartoli,Nicolas Levy,Judith Hudson,Teresinha Evangelista,Hanns Lochmuller,Martin Krahn,Laura Rufibach,Madhuri Hegde,Robert H Brown
Source:
Annals of clinical and translational neurology
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS
jueves, abril 04, 2019
Author(s):
Sahar Gelfman,Sarah Dugger,Cristiane de Araujo Martins Moreno,Zhong Ren,Charles J Wolock,Neil A Shneider,Hemali Phatnani,Elizabeth T Cirulli,Brittany N Lasseigne,Tim Harris,Tom Maniatis,Guy A Rouleau,Robert H Brown,Aaron D Gitler,Richard M Myers,Slavé Petrovski,Andrew Allen,David B Goldstein,Matthew B Harms
Source:
Genome research
Safe and effective superoxide dismutase 1 silencing using artificial microRNA in macaques
viernes, noviembre 02, 2018
Author(s):
Florie Borel,Gwladys Gernoux,Huaming Sun,Rachel Stock,Meghan Blackwood,Robert H Brown,Christian Mueller
Source:
Science translational medicine
Defective daily temperature regulation in a mouse model of amyotrophic lateral sclerosis
domingo, julio 22, 2018
Author(s):
Maurine C Braun,Alexandra Castillo-Ruiz,Premananda Indic,Dae Young Jung,Jason K Kim,Robert H Brown,Steven J Swoap,William J Schwartz
Source:
Experimental neurology
Cortical Spreading Depression Denotes Concussion Injury
viernes, julio 13, 2018
Author(s):
James Bouley,David Y Chung,Cenk Ayata,Robert H Brown,Nils Henninger
Source:
Journal of neurotrauma
Publisher Correction: TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD
jueves, junio 07, 2018
Author(s):
Matthew A White,Eosu Kim,Amanda Duffy,Robert Adalbert,Benjamin U Phillips,Owen M Peters,Jodie Stephenson,Sujeong Yang,Francesca Massenzio,Ziqiang Lin,Simon Andrews,Anne Segonds-Pichon,Jake Metterville,Lisa M Saksida,Richard Mead,Richard R Ribchester,Youssef Barhomi,Thomas Serre,Michael P Coleman,Justin R Fallon,Timothy J Bussey,Robert H Brown,Jemeen Sreedharan
Source:
Nature neuroscience
Finding a Treatment for ALS - Will Gene Editing Cut It?
jueves, abril 12, 2018
Author(s):
Ammar Al-Chalabi,Robert H Brown
Source:
The New England journal of medicine
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
sábado, marzo 24, 2018
Author(s):
Aude Nicolas,Kevin P Kenna,Alan E Renton,Nicola Ticozzi,Faraz Faghri,Ruth Chia,Janice A Dominov,Brendan J Kenna,Mike A Nalls,Pamela Keagle,Alberto M Rivera,Wouter van Rheenen,Natalie A Murphy,Joke J F A van Vugt,Joshua T Geiger,Rick A Van der Spek,Hannah A Pliner,None Shankaracharya,Bradley N Smith,Giuseppe Marangi,Simon D Topp,Yevgeniya Abramzon,Athina Soragia Gkazi,John D Eicher,Aoife Kenna,ITALSGEN Consortium,Gabriele Mora,Andrea Calvo,Letizia Mazzini,Nilo Riva,Jessica Mandrioli,Claudia Caponnetto,Stefania Battistini,Paolo Volanti,Vincenzo La Bella,Francesca L Conforti,Giuseppe Borghero,Sonia Messina,Isabella L Simone,Francesca Trojsi,Fabrizio Salvi,Francesco O Logullo,Sandra D'Alfonso,Lucia Corrado,Margherita Capasso,Luigi Ferrucci,Genomic Translation for ALS Care (GTAC) Consortium,Cristiane de Araujo Martins Moreno,Sitharthan Kamalakaran,David B Goldstein,ALS Sequencing Consortium,Aaron D Gitler,Tim Harris,Richard M Myers,NYGC ALS Consortium,Hemali Phatnani,Rajeeva Lochan Musunuri,Uday Shankar Evani,Avinash Abhyankar,Michael C Zody,Answer ALS Foundation,Julia Kaye,Steven Finkbeiner,Stacia K Wyman,Alex LeNail,Leandro Lima,Ernest Fraenkel,Clive N Svendsen,Leslie M Thompson,Jennifer E Van Eyk,James D Berry,Timothy M Miller,Stephen J Kolb,Merit Cudkowicz,Emily Baxi,Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium,Michael Benatar,J Paul Taylor,Evadnie Rampersaud,Gang Wu,Joanne Wuu,SLAGEN Consortium,Giuseppe Lauria,Federico Verde,Isabella Fogh,Cinzia Tiloca,Giacomo P Comi,Gianni Sorarù,Cristina Cereda,French ALS Consortium,Philippe Corcia,Hannu Laaksovirta,Liisa Myllykangas,Lilja Jansson,Miko Valori,John Ealing,Hisham Hamdalla,Sara Rollinson,Stuart Pickering-Brown,Richard W Orrell,Katie C Sidle,Andrea Malaspina,John Hardy,Andrew B Singleton,Janel O Johnson,Sampath Arepalli,Peter C Sapp,Diane McKenna-Yasek,Meraida Polak,Seneshaw Asress,Safa Al-Sarraj,Andrew King,Claire Troakes,Caroline Vance,Jacqueline de Belleroche,Frank Baas,Anneloor L M A Ten Asbroek,José Luis Muñoz-Blanco,Dena G Hernandez,Jinhui Ding,J Raphael Gibbs,Sonja W Scholz,Mary Kay Floeter,Roy H Campbell,Francesco Landi,Robert Bowser,Stefan M Pulst,John M Ravits,Daniel J L MacGowan,Janine Kirby,Erik P Pioro,Roger Pamphlett,James Broach,Glenn Gerhard,Travis L Dunckley,Christopher B Brady,Neil W Kowall,Juan C Troncoso,Isabelle Le Ber,Kevin Mouzat,Serge Lumbroso,Terry D Heiman-Patterson,Freya Kamel,Ludo Van Den Bosch,Robert H Baloh,Tim M Strom,Thomas Meitinger,Aleksey Shatunov,Kristel R Van Eijk,Mamede de Carvalho,Maarten Kooyman,Bas Middelkoop,Matthieu Moisse,Russell L McLaughlin,Michael A Van Es,Markus Weber,Kevin B Boylan,Marka Van Blitterswijk,Rosa Rademakers,Karen E Morrison,A Nazli Basak,Jesús S Mora,Vivian E Drory,Pamela J Shaw,Martin R Turner,Kevin Talbot,Orla Hardiman,Kelly L Williams,Jennifer A Fifita,Garth A Nicholson,Ian P Blair,Guy A Rouleau,Jesús Esteban-Pérez,Alberto García-Redondo,Ammar Al-Chalabi,Project MinE ALS Sequencing Consortium,Ekaterina Rogaeva,Lorne Zinman,Lyle W Ostrow,Nicholas J Maragakis,Jeffrey D Rothstein,Zachary Simmons,Johnathan Cooper-Knock,Alexis Brice,Stephen A Goutman,Eva L Feldman,Summer B Gibson,Franco Taroni,Antonia Ratti,Cinzia Gellera,Philip Van Damme,Wim Robberecht,Pietro Fratta,Mario Sabatelli,Christian Lunetta,Albert C Ludolph,Peter M Andersen,Jochen H Weishaupt,William Camu,John Q Trojanowski,Vivianna M Van Deerlin,Robert H Brown,Leonard H van den Berg,Jan H Veldink,Matthew B Harms,Jonathan D Glass,David J Stone,Pentti Tienari,Vincenzo Silani,Adriano Chiò,Christopher E Shaw,Bryan J Traynor,John E Landers
Source:
Neuron
TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD
miércoles, marzo 21, 2018
Author(s):
Matthew A White,Eosu Kim,Amanda Duffy,Robert Adalbert,Benjamin U Phillips,Owen M Peters,Jodie Stephenson,Sujeong Yang,Francesca Massenzio,Ziqiang Lin,Simon Andrews,Anne Segonds-Pichon,Jake Metterville,Lisa M Saksida,Richard Mead,Richard R Ribchester,Youssef Barhomi,Thomas Serre,Michael P Coleman,Justin R Fallon,Timothy J Bussey,Robert H Brown,Jemeen Sreedharan
Source:
Nature neuroscience
Amyotrophic Lateral Sclerosis
jueves, octubre 19, 2017
Author(s):
Robert H Brown,Ammar Al-Chalabi
Source:
The New England journal of medicine
A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD
miércoles, junio 14, 2017
Author(s):
Rustam Esanov,Gabriela Toro Cabrera,Nadja S Andrade,Tania F Gendron,Robert H Brown,Michael Benatar,Claes Wahlestedt,Christian Mueller,Zane Zeier
Source:
Molecular neurodegeneration
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
viernes, mayo 05, 2017
Author(s):
Bradley N Smith,Simon D Topp,Claudia Fallini,Hideki Shibata,Han-Jou Chen,Claire Troakes,Andrew King,Nicola Ticozzi,Kevin P Kenna,Athina Soragia-Gkazi,Jack W Miller,Akane Sato,Diana Marques Dias,Maryangel Jeon,Caroline Vance,Chun Hao Wong,Martina de Majo,Wejdan Kattuah,Jacqueline C Mitchell,Emma L Scotter,Nicholas W Parkin,Peter C Sapp,Matthew Nolan,Peter J Nestor,Michael Simpson,Michael Weale,Monkel Lek,Frank Baas,J M Vianney de Jong,Anneloor L M A Ten Asbroek,Alberto Garcia Redondo,Jesús Esteban-Pérez,Cinzia Tiloca,Federico Verde,Stefano Duga,Nigel Leigh,Hardev Pall,Karen E Morrison,Ammar Al-Chalabi,Pamela J Shaw,Janine Kirby,Martin R Turner,Kevin Talbot,Orla Hardiman,Jonathan D Glass,Jacqueline De Belleroche,Masatoshi Maki,Stephen E Moss,Christopher Miller,Cinzia Gellera,Antonia Ratti,Safa Al-Sarraj,Robert H Brown,Vincenzo Silani,John E Landers,Christopher E Shaw
Source:
Science translational medicine
Genetics of Amyotrophic Lateral Sclerosis
jueves, marzo 09, 2017
Author(s):
Mehdi Ghasemi,Robert H Brown
Source:
Cold Spring Harbor perspectives in medicine
David A. Drachman, MD (1932-2016)
miércoles, marzo 08, 2017
Author(s):
Robert H Brown,William J Schwartz
Source:
Neurology
Restrictive Lung Disease in the Cu/Zn Superoxide-Dismutase 1 G93A Amyotrophic Lateral Sclerosis Mouse Model
jueves, marzo 02, 2017
Author(s):
Lorelei Stoica,Allison M Keeler,Lang Xiong,Michael Kalfopoulos,Kaitlyn Desrochers,Robert H Brown,Miguel Sena-Esteves,Terence R Flotte,Mai K ElMallah
Source:
American journal of respiratory cell and molecular biology
Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease
lunes, enero 02, 2017
Author(s):
Daniel Fil,Abigail DeLoach,Shilpi Yadav,Duah Alkam,Melanie MacNicol,Awantika Singh,Cesar M Compadre,Joseph J Goellner,Charles A O'Brien,Tariq Fahmi,Alexei G Basnakian,Noel Y Calingasan,Jodi L Klessner,Flint M Beal,Owen M Peters,Jake Metterville,Robert H Brown,Karen K Y Ling,Frank Rigo,P Hande Ozdinler,Mahmoud Kiaei
Source:
Human molecular genetics
Decoding ALS: from genes to mechanism
viernes, noviembre 11, 2016
Author(s):
J Paul Taylor,Robert H Brown,Don W Cleveland
Source:
Nature
Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity
viernes, septiembre 30, 2016
Author(s):
Chunxing Yang,Eric W Danielson,Tao Qiao,Jake Metterville,Robert H Brown,John E Landers,Zuoshang Xu
Source:
Proceedings of the National Academy of Sciences of the United States of America
Silencing strategies for therapy of SOD1-mediated ALS
jueves, agosto 11, 2016
Author(s):
Brigitte van Zundert,Robert H Brown
Source:
Neuroscience letters
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
martes, julio 26, 2016
Author(s):
Kevin P Kenna,Perry T C van Doormaal,Annelot M Dekker,Nicola Ticozzi,Brendan J Kenna,Frank P Diekstra,Wouter van Rheenen,Kristel R van Eijk,Ashley R Jones,Pamela Keagle,Aleksey Shatunov,William Sproviero,Bradley N Smith,Michael A van Es,Simon D Topp,Aoife Kenna,Jack W Miller,Claudia Fallini,Cinzia Tiloca,Russell L McLaughlin,Caroline Vance,Claire Troakes,Claudia Colombrita,Gabriele Mora,Andrea Calvo,Federico Verde,Safa Al-Sarraj,Andrew King,Daniela Calini,Jacqueline de Belleroche,Frank Baas,Anneke J van der Kooi,Marianne de Visser,Anneloor L M A Ten Asbroek,Peter C Sapp,Diane McKenna-Yasek,Meraida Polak,Seneshaw Asress,José Luis Muñoz-Blanco,Tim M Strom,Thomas Meitinger,Karen E Morrison,SLAGEN Consortium,Giuseppe Lauria,Kelly L Williams,P Nigel Leigh,Garth A Nicholson,Ian P Blair,Claire S Leblond,Patrick A Dion,Guy A Rouleau,Hardev Pall,Pamela J Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Kevin B Boylan,Marka Van Blitterswijk,Rosa Rademakers,Jesús Esteban-Pérez,Alberto García-Redondo,Phillip Van Damme,Wim Robberecht,Adriano Chio,Cinzia Gellera,Carsten Drepper,Michael Sendtner,Antonia Ratti,Jonathan D Glass,Jesús S Mora,Nazli A Basak,Orla Hardiman,Albert C Ludolph,Peter M Andersen,Jochen H Weishaupt,Robert H Brown,Ammar Al-Chalabi,Vincenzo Silani,Christopher E Shaw,Leonard H van den Berg,Jan H Veldink,John E Landers
Source:
Nature genetics
Erratum to: Mutant SOD1 protein increases Nav1.3 channel excitability
jueves, junio 09, 2016
Author(s):
Elif Kubat Öktem,Karen Mruk,Joshua Chang,Ata Akin,William R Kobertz,Robert H Brown
Source:
Journal of biological physics
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
sábado, abril 16, 2016
Author(s):
Kelly L Williams,Simon Topp,Shu Yang,Bradley Smith,Jennifer A Fifita,Sadaf T Warraich,Katharine Y Zhang,Natalie Farrawell,Caroline Vance,Xun Hu,Alessandra Chesi,Claire S Leblond,Albert Lee,Stephanie L Rayner,Vinod Sundaramoorthy,Carol Dobson-Stone,Mark P Molloy,Marka van Blitterswijk,Dennis W Dickson,Ronald C Petersen,Neill R Graff-Radford,Bradley F Boeve,Melissa E Murray,Cyril Pottier,Emily Don,Claire Winnick,Emily P McCann,Alison Hogan,Hussein Daoud,Annie Levert,Patrick A Dion,Jun Mitsui,Hiroyuki Ishiura,Yuji Takahashi,Jun Goto,Jason Kost,Cinzia Gellera,Athina Soragia Gkazi,Jack Miller,Joanne Stockton,William S Brooks,Karyn Boundy,Meraida Polak,José Luis Muñoz-Blanco,Jesús Esteban-Pérez,Alberto Rábano,Orla Hardiman,Karen E Morrison,Nicola Ticozzi,Vincenzo Silani,Jacqueline de Belleroche,Jonathan D Glass,John B J Kwok,Gilles J Guillemin,Roger S Chung,Shoji Tsuji,Robert H Brown,Alberto García-Redondo,Rosa Rademakers,John E Landers,Aaron D Gitler,Guy A Rouleau,Nicholas J Cole,Justin J Yerbury,Julie D Atkin,Christopher E Shaw,Garth A Nicholson,Ian P Blair
Source:
Nature communications
Mutant SOD1 protein increases Nav1.3 channel excitability
jueves, abril 14, 2016
Author(s):
Elif Kubat Öktem,Karen Mruk,Joshua Chang,Ata Akin,William R Kobertz,Robert H Brown
Source:
Journal of biological physics
Attenuated traumatic axonal injury and improved functional outcome after traumatic brain injury in mice lacking Sarm1
viernes, febrero 26, 2016
Author(s):
Nils Henninger,James Bouley,Elif M Sikoglu,Jiyan An,Constance M Moore,Jean A King,Robert Bowser,Marc R Freeman,Robert H Brown
Source:
Brain : a journal of neurology
A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression
viernes, febrero 26, 2016
Author(s):
Michael D Weiss,Eric A Macklin,Zachary Simmons,Angela S Knox,David J Greenblatt,Nazem Atassi,Michael Graves,Nicholas Parziale,Johnny S Salameh,Colin Quinn,Robert H Brown,Jane B Distad,Jaya Trivedi,Jeremy M Shefner,Richard J Barohn,Alan Pestronk,Andrea Swenson,Merit E Cudkowicz,Mexiletine ALS Study Group
Source:
Neurology
Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model
viernes, febrero 19, 2016
Author(s):
Lorelei Stoica,Sophia H Todeasa,Gabriela Toro Cabrera,Johnny S Salameh,Mai K ElMallah,Christian Mueller,Robert H Brown,Miguel Sena-Esteves
Source:
Annals of neurology
Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates
miércoles, diciembre 30, 2015
Author(s):
Florie Borel,Gwladys Gernoux,Brynn Cardozo,Jake P Metterville,Gabriela C Toro Cabrera,Lina Song,Qin Su,Guang Ping Gao,Mai K Elmallah,Robert H Brown,Christian Mueller
Source:
Human gene therapy
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice
domingo, diciembre 06, 2015
Author(s):
Owen M Peters,Gabriela Toro Cabrera,Helene Tran,Tania F Gendron,Jeanne E McKeon,Jake Metterville,Alexandra Weiss,Nicholas Wightman,Johnny Salameh,Juyhun Kim,Huaming Sun,Kevin B Boylan,Dennis Dickson,Zack Kennedy,Ziqiang Lin,Yong-Jie Zhang,Lillian Daughrity,Chris Jung,Fen-Biao Gao,Peter C Sapp,H Robert Horvitz,Daryl A Bosco,Solange P Brown,Pieter de Jong,Leonard Petrucelli,Chris Mueller,Robert H Brown
Source:
Neuron
Amyotrophic Lateral Sclerosis: Review
miércoles, octubre 28, 2015
Author(s):
Johnny S Salameh,Robert H Brown,James D Berry
Source:
Seminars in neurology
Endogenous retroviruses in ALS: A reawakening?
viernes, octubre 02, 2015
Author(s):
Robert H Brown,Ammar Al-Chalabi
Source:
Science translational medicine
Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
viernes, agosto 21, 2015
Author(s):
Janice A Dominov,Özgün Uyan,Peter C Sapp,Diane McKenna-Yasek,Babi Ramesh Reddy Nallamilli,Madhuri Hegde,Robert H Brown
Source:
Annals of clinical and translational neurology
Age-Dependent TDP-43-Mediated Motor Neuron Degeneration Requires GSK3, hat-trick, and xmas-2
martes, agosto 04, 2015
Author(s):
Jemeen Sreedharan,Lukas J Neukomm,Robert H Brown,Marc R Freeman
Source:
Current biology : CB
Emerging mechanisms of molecular pathology in ALS
martes, junio 02, 2015
Author(s):
Owen M Peters,Mehdi Ghasemi,Robert H Brown
Source:
The Journal of clinical investigation
Emerging mechanisms of molecular pathology in ALS
sábado, mayo 02, 2015
Author(s):
Owen M Peters,Mehdi Ghasemi,Robert H Brown
Source:
The Journal of clinical investigation
International engagement by United States academic neurology departments: A national survey
viernes, enero 23, 2015
Author(s):
Michael P H Stanley,Joseph Berger,Shri Misra,Ildefonso Rodriguez,Victoria Elliott,Robert H Brown,Farrah J Mateen
Source:
Annals of neurology
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
martes, diciembre 16, 2014
Author(s):
Bradley N Smith,Caroline Vance,Emma L Scotter,Claire Troakes,Chun Hao Wong,Simon Topp,Satomi Maekawa,Andrew King,Jacqueline C Mitchell,Karan Lund,Ammar Al-Chalabi,Nicola Ticozzi,Vincenzo Silani,Peter Sapp,Robert H Brown,John E Landers,Safa Al-Sarraj,Christopher E Shaw
Source:
Neurobiology of aging
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
jueves, diciembre 11, 2014
Author(s):
Janice A Dominov,Ozgün Uyan,Peter C Sapp,Diane McKenna-Yasek,Babi R R Nallamilli,Madhuri Hegde,Robert H Brown
Source:
Annals of clinical and translational neurology
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
viernes, noviembre 07, 2014
Author(s):
Bradley N Smith,Nicola Ticozzi,Claudia Fallini,Athina Soragia Gkazi,Simon Topp,Kevin P Kenna,Emma L Scotter,Jason Kost,Pamela Keagle,Jack W Miller,Daniela Calini,Caroline Vance,Eric W Danielson,Claire Troakes,Cinzia Tiloca,Safa Al-Sarraj,Elizabeth A Lewis,Andrew King,Claudia Colombrita,Viviana Pensato,Barbara Castellotti,Jacqueline de Belleroche,Frank Baas,Anneloor L M A ten Asbroek,Peter C Sapp,Diane McKenna-Yasek,Russell L McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban-Pérez,José Luis Muñoz-Blanco,Michael Simpson,SLAGEN Consortium,Wouter van Rheenen,Frank P Diekstra,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Gianni Sorarù,Karen E Morrison,Kelly L Williams,Garth A Nicholson,Ian P Blair,Patrick A Dion,Claire S Leblond,Guy A Rouleau,Orla Hardiman,Jan H Veldink,Leonard H van den Berg,Ammar Al-Chalabi,Hardev Pall,Pamela J Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Alberto García-Redondo,Zheyang Wu,Jonathan D Glass,Cinzia Gellera,Antonia Ratti,Robert H Brown,Vincenzo Silani,Christopher E Shaw,John E Landers
Source:
Neuron
Natural history and biomarkers in hereditary sensory neuropathy type 1
martes, julio 22, 2014
Author(s):
Vera Fridman,Anne Louise Oaklander,William S David,Elise A Johnson,Jessica Pan,Peter Novak,Robert H Brown,Florian S Eichler
Source:
Muscle & nerve
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis
martes, junio 17, 2014
Author(s):
Frank P Diekstra,Vivianna M Van Deerlin,John C van Swieten,Ammar Al-Chalabi,Albert C Ludolph,Jochen H Weishaupt,Orla Hardiman,John E Landers,Robert H Brown,Michael A van Es,R Jeroen Pasterkamp,Max Koppers,Peter M Andersen,Karol Estrada,Fernando Rivadeneira,Albert Hofman,André G Uitterlinden,Philip van Damme,Judith Melki,Vincent Meininger,Aleksey Shatunov,Christopher E Shaw,P Nigel Leigh,Pamela J Shaw,Karen E Morrison,Isabella Fogh,Adriano Chiò,Bryan J Traynor,David Czell,Markus Weber,Peter Heutink,Paul I W de Bakker,Vincenzo Silani,Wim Robberecht,Leonard H van den Berg,Jan H Veldink
Source:
Annals of neurology
Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons
martes, abril 08, 2014
Author(s):
Brian J Wainger,Evangelos Kiskinis,Cassidy Mellin,Ole Wiskow,Steve S W Han,Jackson Sandoe,Numa P Perez,Luis A Williams,Seungkyu Lee,Gabriella Boulting,James D Berry,Robert H Brown,Merit E Cudkowicz,Bruce P Bean,Kevin Eggan,Clifford J Woolf
Source:
Cell reports
Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis
miércoles, marzo 12, 2014
Author(s):
Chunxing Yang,Hongyan Wang,Tao Qiao,Bin Yang,Leonardo Aliaga,Linghua Qiu,Weijia Tan,Johnny Salameh,Diane M McKenna-Yasek,Thomas Smith,Lingtao Peng,Melissa J Moore,Robert H Brown,Huaibin Cai,Zuoshang Xu
Source:
Proceedings of the National Academy of Sciences of the United States of America
ATF3 expression improves motor function in the ALS mouse model by promoting motor neuron survival and retaining muscle innervation
jueves, enero 30, 2014
Author(s):
Rhona Seijffers,Jiangwen Zhang,Jonathan C Matthews,Adam Chen,Eric Tamrazian,Olusegun Babaniyi,Martin Selig,Meri Hynynen,Clifford J Woolf,Robert H Brown
Source:
Proceedings of the National Academy of Sciences of the United States of America
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis
sábado, noviembre 16, 2013
Author(s):
An Goris,Jessica van Setten,Frank Diekstra,Stephan Ripke,Nikolaos A Patsopoulos,Stephen J Sawcer,International Multiple Sclerosis Genetics Consortium,Michael van Es,Australia and New Zealand MS Genetics Consortium,Peter M Andersen,Judith Melki,Vincent Meininger,Orla Hardiman,John E Landers,Robert H Brown,Aleksey Shatunov,Nigel Leigh,Ammar Al-Chalabi,Christopher E Shaw,Bryan J Traynor,Adriano Chiò,Gabriella Restagno,Gabriele Mora,Roel A Ophoff,Jorge R Oksenberg,Philip Van Damme,Alastair Compston,Wim Robberecht,Bénédicte Dubois,Leonard H van den Berg,Philip L De Jager,Jan H Veldink,Paul I W de Bakker
Source:
Human molecular genetics
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19
martes, octubre 15, 2013
Author(s):
Yuji Takahashi,Yoko Fukuda,Jun Yoshimura,Atsushi Toyoda,Kari Kurppa,Hiroyoko Moritoyo,Veronique V Belzil,Patrick A Dion,Koichiro Higasa,Koichiro Doi,Hiroyuki Ishiura,Jun Mitsui,Hidetoshi Date,Budrul Ahsan,Takashi Matsukawa,Yaeko Ichikawa,Takashi Moritoyo,Mayumi Ikoma,Tsukasa Hashimoto,Fumiharu Kimura,Shigeo Murayama,Osamu Onodera,Masatoyo Nishizawa,Mari Yoshida,Naoki Atsuta,Gen Sobue,JaCALS,Jennifer A Fifita,Kelly L Williams,Ian P Blair,Garth A Nicholson,Paloma Gonzalez-Perez,Robert H Brown,Masahiro Nomoto,Klaus Elenius,Guy A Rouleau,Asao Fujiyama,Shinichi Morishita,Jun Goto,Shoji Tsuji
Source:
American journal of human genetics
Introduction to a special edition of Annals: Therapeutic prospects
sábado, octubre 12, 2013
Author(s):
Robert H Brown,Stephen L Hauser
Source:
Annals of neurology
Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis
viernes, octubre 11, 2013
Author(s):
Hongyan Wang,Bin Yang,Linghua Qiu,Chunxing Yang,Joshua Kramer,Qin Su,Yansu Guo,Robert H Brown,Guangping Gao,Zuoshang Xu
Source:
Human molecular genetics
Amyotrophic lateral sclerosis: Problems and prospects
martes, septiembre 17, 2013
Author(s):
Jemeen Sreedharan,Robert H Brown
Source:
Annals of neurology
Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice
sábado, agosto 24, 2013
Author(s):
Kim A Staats,Lawrence Van Helleputte,Ashley R Jones,André Bento-Abreu,Annelies Van Hoecke,Aleksey Shatunov,Claire L Simpson,Robin Lemmens,Tom Jaspers,Kiyoko Fukami,Yoshikazu Nakamura,Robert H Brown,Philip Van Damme,Adrian Liston,Wim Robberecht,Ammar Al-Chalabi,Ludo Van Den Bosch
Source:
Neurobiology of disease
Post-translational modification by cysteine protects Cu/Zn-superoxide dismutase from oxidative damage
sábado, agosto 10, 2013
Author(s):
Jared R Auclair,Joshua L Johnson,Qian Liu,Joseph P Salisbury,Melissa S Rotunno,Gregory A Petsko,Dagmar Ringe,Robert H Brown,Daryl A Bosco,Jeffrey N Agar
Source:
Biochemistry
Inhibition of fast axonal transport by pathogenic SOD1 involves activation of p38 MAP kinase
miércoles, junio 19, 2013
Author(s):
Gerardo A Morfini,Daryl A Bosco,Hannah Brown,Rodolfo Gatto,Agnieszka Kaminska,Yuyu Song,Linda Molla,Lisa Baker,M Natalia Marangoni,Sarah Berth,Ehsan Tavassoli,Carolina Bagnato,Ashutosh Tiwari,Lawrence J Hayward,Gustavo F Pigino,D Martin Watterson,Chun-Fang Huang,Gary Banker,Robert H Brown,Scott T Brady
Source:
PloS one
Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1
jueves, junio 06, 2013
Author(s):
Sarah Pickles,Laurie Destroismaisons,Sarah L Peyrard,Sarah Cadot,Guy A Rouleau,Robert H Brown,Jean-Pierre Julien,Nathalie Arbour,Christine Vande Velde
Source:
Human molecular genetics
Mutant SOD1-expressing astrocytes release toxic factors that trigger motoneuron death by inducing hyperexcitability
viernes, marzo 15, 2013
Author(s):
Elsa Fritz,Pamela Izaurieta,Alexandra Weiss,Franco R Mir,Patricio Rojas,David Gonzalez,Fabiola Rojas,Robert H Brown,Rodolfo Madrid,Brigitte van Zundert
Source:
Journal of neurophysiology
Multimodal actions of neural stem cells in a mouse model of ALS: a meta-analysis
viernes, diciembre 21, 2012
Author(s):
Yang D Teng,Susanna C Benn,Steven N Kalkanis,Jeremy M Shefner,Renna C Onario,Bin Cheng,Mahesh B Lachyankar,Michael Marconi,Jianxue Li,Dou Yu,Inbo Han,Nicholas J Maragakis,Jeronia Lládo,Kadir Erkmen,D Eugene Redmond,Richard L Sidman,Serge Przedborski,Jeffrey D Rothstein,Robert H Brown,Evan Y Snyder
Source:
Science translational medicine
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis
viernes, noviembre 16, 2012
Author(s):
Paloma González-Pérez,Elizabeth T Cirulli,Vivian E Drory,Ron Dabby,Puiu Nisipeanu,Ralph L Carasso,Menachem Sadeh,Andrew Fox,Barry W Festoff,Peter C Sapp,Diane McKenna-Yasek,David B Goldstein,Robert H Brown,Sergiu C Blumen
Source:
Neurology
Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress
martes, noviembre 13, 2012
Author(s):
Shuping Li,Jinghao Sheng,Jamie K Hu,Wenhao Yu,Hiroko Kishikawa,Miaofen G Hu,Kaori Shima,David Wu,Zhengping Xu,Winnie Xin,Katherine B Sims,John E Landers,Robert H Brown,Guo-fu Hu
Source:
Angiogenesis
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
martes, agosto 28, 2012
Author(s):
Annelies Van Hoecke,Lies Schoonaert,Robin Lemmens,Mieke Timmers,Kim A Staats,Angela S Laird,Elke Peeters,Thomas Philips,An Goris,Bénédicte Dubois,Peter M Andersen,Ammar Al-Chalabi,Vincent Thijs,Ann M Turnley,Paul W van Vught,Jan H Veldink,Orla Hardiman,Ludo Van Den Bosch,Paloma Gonzalez-Perez,Philip Van Damme,Robert H Brown,Leonard H van den Berg,Wim Robberecht
Source:
Nature medicine
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
miércoles, julio 18, 2012
Author(s):
Chi-Hong Wu,Claudia Fallini,Nicola Ticozzi,Pamela J Keagle,Peter C Sapp,Katarzyna Piotrowska,Patrick Lowe,Max Koppers,Diane McKenna-Yasek,Desiree M Baron,Jason E Kost,Paloma Gonzalez-Perez,Andrew D Fox,Jenni Adams,Franco Taroni,Cinzia Tiloca,Ashley Lyn Leclerc,Shawn C Chafe,Dev Mangroo,Melissa J Moore,Jill A Zitzewitz,Zuo-Shang Xu,Leonard H van den Berg,Jonathan D Glass,Gabriele Siciliano,Elizabeth T Cirulli,David B Goldstein,Francois Salachas,Vincent Meininger,Wilfried Rossoll,Antonia Ratti,Cinzia Gellera,Daryl A Bosco,Gary J Bassell,Vincenzo Silani,Vivian E Drory,Robert H Brown,John E Landers
Source:
Nature
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS
sábado, julio 07, 2012
Author(s):
Paloma González-Pérez,Yubing Lu,Ru-Ju Chian,Peter C Sapp,Rudolph E Tanzi,Lars Bertram,Diane McKenna-Yasek,Fen-Biao Gao,Robert H Brown
Source:
Neurobiology of disease
Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer
viernes, junio 22, 2012
Author(s):
William E Grose,K Reed Clark,Danielle Griffin,Vinod Malik,Kimberly M Shontz,Chrystal L Montgomery,Sarah Lewis,Robert H Brown,Paul M L Janssen,Jerry R Mendell,Louise R Rodino-Klapac
Source:
PloS one
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
jueves, junio 14, 2012
Author(s):
Bradley N Smith,Stephen Newhouse,Aleksey Shatunov,Caroline Vance,Simon Topp,Lauren Johnson,Jack Miller,Younbok Lee,Claire Troakes,Kirsten M Scott,Ashley Jones,Ian Gray,Jamie Wright,Tibor Hortobágyi,Safa Al-Sarraj,Boris Rogelj,John Powell,Michelle Lupton,Simon Lovestone,Peter C Sapp,Markus Weber,Peter J Nestor,Helenius J Schelhaas,Anneloor Alm Ten Asbroek,Vincenzo Silani,Cinzia Gellera,Franco Taroni,Nicola Ticozzi,Leonard Van den Berg,Jan Veldink,Phillip Van Damme,Wim Robberecht,Pamela J Shaw,Janine Kirby,Hardev Pall,Karen E Morrison,Alex Morris,Jacqueline de Belleroche,J M B Vianney de Jong,Frank Baas,Peter M Andersen,John Landers,Robert H Brown,Michael E Weale,Ammar Al-Chalabi,Christopher E Shaw
Source:
European journal of human genetics : EJHG
dSarm/Sarm1 is required for activation of an injury-induced axon death pathway
sábado, junio 09, 2012
Author(s):
Jeannette M Osterloh,Jing Yang,Timothy M Rooney,A Nicole Fox,Robert Adalbert,Eric H Powell,Amy E Sheehan,Michelle A Avery,Rachel Hackett,Mary A Logan,Jennifer M MacDonald,Jennifer S Ziegenfuss,Stefan Milde,Ying-Ju Hou,Carl Nathan,Aihao Ding,Robert H Brown,Laura Conforti,Michael Coleman,Marc Tessier-Lavigne,Stephan Züchner,Marc R Freeman
Source:
Science (New York, N.Y.)
A high-throughput screen to identify inhibitors of SOD1 transcription
sábado, junio 02, 2012
Author(s):
Paul D Wright,Nicholas Wightman,Mickey Huang,Alexandra Weiss,Peter C Sapp,Gregory D Cuny,Adrian J Ivinson,Marcie A Glicksman,Robert J Ferrante,Wayne Matson,Samantha Matson,Robert H Brown
Source:
Frontiers in bioscience (Elite edition)
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS
miércoles, abril 18, 2012
Author(s):
Frank P Diekstra,Christiaan G J Saris,Wouter van Rheenen,Lude Franke,Ritsert C Jansen,Michael A van Es,Paul W J van Vught,Hylke M Blauw,Ewout J N Groen,Steve Horvath,Karol Estrada,Fernando Rivadeneira,Albert Hofman,Andre G Uitterlinden,Wim Robberecht,Peter M Andersen,Judith Melki,Vincent Meininger,Orla Hardiman,John E Landers,Robert H Brown,Aleksey Shatunov,Christopher E Shaw,P Nigel Leigh,Ammar Al-Chalabi,Roel A Ophoff,Leonard H van den Berg,Jan H Veldink
Source:
PloS one
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients
miércoles, marzo 14, 2012
Author(s):
Eliana Marisa Ramos,Pamela Keagle,Tammy Gillis,Patrick Lowe,Jayalakshmi S Mysore,Ashley Lyn Leclerc,Antonia Ratti,Nicola Ticozzi,Cinzia Gellera,James F Gusella,Vincenzo Silani,Isabel Alonso,Robert H Brown,Marcy E MacDonald,John E Landers
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
viernes, diciembre 23, 2011
Author(s):
Michael A van Es,Helenius J Schelhaas,Paul W J van Vught,Nicola Ticozzi,Peter M Andersen,Ewout J N Groen,Claudia Schulte,Hylke M Blauw,Max Koppers,Frank P Diekstra,Katsumi Fumoto,Ashley Lyn LeClerc,Pamela Keagle,Bastiaan R Bloem,Hans Scheffer,Bart F L van Nuenen,Marka van Blitterswijk,Wouter van Rheenen,Anne-Marie Wills,Patrick P Lowe,Guo-fu Hu,Wenhao Yu,Hiroko Kishikawa,David Wu,Rebecca D Folkerth,Claudio Mariani,Stefano Goldwurm,Gianni Pezzoli,Philip Van Damme,Robin Lemmens,Caroline Dahlberg,Anna Birve,Rubén Fernández-Santiago,Stefan Waibel,Christine Klein,Markus Weber,Anneke J van der Kooi,Marianne de Visser,Dagmar Verbaan,Jacobus J van Hilten,Peter Heutink,Eric A M Hennekam,Edwin Cuppen,Daniela Berg,Robert H Brown,Vincenzo Silani,Thomas Gasser,Albert C Ludolph,Wim Robberecht,Roel A Ophoff,Jan H Veldink,R Jeroen Pasterkamp,Paul I W de Bakker,John E Landers,Bart P van de Warrenburg,Leonard H van den Berg
Source:
Annals of neurology
Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis
miércoles, octubre 26, 2011
Author(s):
Marka van Blitterswijk,Sunita Gulati,Elizabeth Smoot,Matthew Jaffa,Nancy Maher,Bradley T Hyman,Adrian J Ivinson,Clemens R Scherzer,David A Schoenfeld,Merit E Cudkowicz,Robert H Brown,Daryl A Bosco
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
martes, mayo 31, 2011
Author(s):
Rachael M Duff,Valerie Tay,Peter Hackman,Gianina Ravenscroft,Catriona McLean,Paul Kennedy,Alina Steinbach,Wiebke Schöffler,Peter F M van der Ven,Dieter O Fürst,Jaeguen Song,Kristina Djinović-Carugo,Sini Penttilä,Olayinka Raheem,Katrina Reardon,Alessandro Malandrini,Simona Gambelli,Marcello Villanova,Kristen J Nowak,David R Williams,John E Landers,Robert H Brown,Bjarne Udd,Nigel G Laing
Source:
American journal of human genetics
A yeast model of FUS/TLS-dependent cytotoxicity
jueves, mayo 05, 2011
Author(s):
Shulin Ju,Daniel F Tardiff,Haesun Han,Kanneganti Divya,Quan Zhong,Lynne E Maquat,Daryl A Bosco,Lawrence J Hayward,Robert H Brown,Susan Lindquist,Dagmar Ringe,Gregory A Petsko
Source:
PLoS biology
Dysferlinopathies
martes, abril 19, 2011
Author(s):
Anthony A Amato,Robert H Brown
Source:
Handbook of clinical neurology
Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G⁹³A transgenic ALS mice
viernes, marzo 18, 2011
Author(s):
P Hande Ozdinler,Susanna Benn,Ted H Yamamoto,Mine Güzel,Robert H Brown,Jeffrey D Macklis
Source:
The Journal of neuroscience : the official journal of the Society for Neuroscience
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
martes, octubre 19, 2010
Author(s):
Daryl A Bosco,Gerardo Morfini,N Murat Karabacak,Yuyu Song,Francois Gros-Louis,Piera Pasinelli,Holly Goolsby,Benjamin A Fontaine,Nathan Lemay,Diane McKenna-Yasek,Matthew P Frosch,Jeffrey N Agar,Jean-Pierre Julien,Scott T Brady,Robert H Brown
Source:
Nature neuroscience
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
martes, agosto 31, 2010
Author(s):
Aleksey Shatunov,Kin Mok,Stephen Newhouse,Michael E Weale,Bradley Smith,Caroline Vance,Lauren Johnson,Jan H Veldink,Michael A van Es,Leonard H van den Berg,Wim Robberecht,Philip Van Damme,Orla Hardiman,Anne E Farmer,Cathryn M Lewis,Amy W Butler,Olubunmi Abel,Peter M Andersen,Isabella Fogh,Vincenzo Silani,Adriano Chiò,Bryan J Traynor,Judith Melki,Vincent Meininger,John E Landers,Peter McGuffin,Jonathan D Glass,Hardev Pall,P Nigel Leigh,John Hardy,Robert H Brown,John F Powell,Richard W Orrell,Karen E Morrison,Pamela J Shaw,Christopher E Shaw,Ammar Al-Chalabi
Source:
The Lancet. Neurology
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
jueves, agosto 12, 2010
Author(s):
Daryl A Bosco,Nathan Lemay,Hae Kyung Ko,Hongru Zhou,Chris Burke,Thomas J Kwiatkowski,Peter Sapp,Diane McKenna-Yasek,Robert H Brown,Lawrence J Hayward
Source:
Human molecular genetics
A large genome scan for rare CNVs in amyotrophic lateral sclerosis
viernes, agosto 06, 2010
Author(s):
Hylke M Blauw,Ammar Al-Chalabi,Peter M Andersen,Paul W J van Vught,Frank P Diekstra,Michael A van Es,Christiaan G J Saris,Ewout J N Groen,Wouter van Rheenen,Max Koppers,Ruben Van't Slot,Eric Strengman,Karol Estrada,Fernando Rivadeneira,Albert Hofman,Andre G Uitterlinden,Lambertus A Kiemeney,Sita H M Vermeulen,Anna Birve,Stefan Waibel,Thomas Meyer,Simon Cronin,Russell L McLaughlin,Orla Hardiman,Peter C Sapp,Martin D Tobin,Louise V Wain,Barbara Tomik,Agnieszka Slowik,Robin Lemmens,Dan Rujescu,Claudia Schulte,Thomas Gasser,Robert H Brown,John E Landers,Wim Robberecht,Albert C Ludolph,Roel A Ophoff,Jan H Veldink,Leonard H van den Berg
Source:
Human molecular genetics
Screening for inhibitors of the SOD1 gene promoter: pyrimethamine does not reduce SOD1 levels in cell and animal models
martes, julio 20, 2010
Author(s):
Paul D Wright,Mickey Huang,Alexandra Weiss,Jonathan Matthews,Nicholas Wightman,Marcie Glicksman,Robert H Brown
Source:
Neuroscience letters
Paraoxonase gene mutations in amyotrophic lateral sclerosis
martes, junio 29, 2010
Author(s):
Nicola Ticozzi,Ashley Lyn LeClerc,Pamela J Keagle,Jonathan D Glass,Anne-Marie Wills,Marka van Blitterswijk,Daryl A Bosco,Ildefonso Rodriguez-Leyva,Cinzia Gellera,Antonia Ratti,Franco Taroni,Diane McKenna-Yasek,Peter C Sapp,Vincenzo Silani,Clement E Furlong,Robert H Brown,John E Landers
Source:
Annals of neurology
Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions
martes, junio 29, 2010
Author(s):
Eric J Huang,Jiasheng Zhang,Felix Geser,John Q Trojanowski,Jonathan B Strober,Dennis W Dickson,Robert H Brown,Barbara E Shapiro,Catherine Lomen-Hoerth
Source:
Brain pathology (Zurich, Switzerland)
Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression
sábado, junio 19, 2010
Author(s):
Bingjing Wang,Zhaohui Yang,Becky K Brisson,Huisheng Feng,Zhiqian Zhang,Ellen M Welch,Stuart W Peltz,Elisabeth R Barton,Robert H Brown,H Lee Sweeney
Source:
Journal of applied physiology (Bethesda, Md. : 1985)
ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2
jueves, mayo 13, 2010
Author(s):
Steve Pedrini,Daniela Sau,Stefania Guareschi,Marina Bogush,Robert H Brown,Nicole Naniche,Azadeh Kia,Davide Trotti,Piera Pasinelli
Source:
Human molecular genetics
Vanadium, aluminum, magnesium and manganese are not elevated in hair samples in amyotrophic lateral sclerosis
miércoles, mayo 05, 2010
Author(s):
Galen Royce-Nagel,Merit Cudkowicz,Daniela Myers,Katherine Nicholson,Amy Shui,David Schoenfeld,Xudong Huang,Robert H Brown
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
viernes, abril 23, 2010
Author(s):
Elke Bogaert,An Goris,Philip Van Damme,Veerle Geelen,Robin Lemmens,Michael A van Es,Leonard H van den Berg,Kristel Sleegers,Nathalie Verpoorten,Vincent Timmerman,Peter De Jonghe,Christine Van Broeckhoven,Bryan J Traynor,John E Landers,Robert H Brown,Jonathan D Glass,Ammar Al-Chalabi,Christopher E Shaw,Anna Birve,Peter M Andersen,Agnieszka Slowik,Barbara Tomik,Judith Melki,Wim Robberecht,Ludo Van Den Bosch
Source:
Neurobiology of aging
Dysferlin overexpression in skeletal muscle produces a progressive myopathy
jueves, abril 08, 2010
Author(s):
Louise E Glover,Kimberly Newton,Gomathi Krishnan,Roderick Bronson,Alexandra Boyle,Lisa S Krivickas,Robert H Brown
Source:
Annals of neurology
RNA metabolism and the pathogenesis of motor neuron diseases
martes, marzo 16, 2010
Author(s):
Robin Lemmens,Melissa J Moore,Ammar Al-Chalabi,Robert H Brown,Wim Robberecht
Source:
Trends in neurosciences
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids
martes, enero 26, 2010
Author(s):
Anke Penno,Mary M Reilly,Henry Houlden,Matilde Laurá,Katharina Rentsch,Vera Niederkofler,Esther T Stoeckli,Garth Nicholson,Florian Eichler,Robert H Brown,Arnold von Eckardstein,Thorsten Hornemann
Source:
The Journal of biological chemistry
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis
sábado, enero 16, 2010
Author(s):
Devon P Ryan,Magnus R Dias da Silva,Tuck Wah Soong,Bertrand Fontaine,Matt R Donaldson,Annie W C Kung,Wallaya Jongjaroenprasert,Mui Cheng Liang,Daphne H C Khoo,Jin Seng Cheah,Su Chin Ho,Harold S Bernstein,Rui M B Maciel,Robert H Brown,Louis J Ptácek
Source:
Cell
Mutational analysis of TARDBP in neurodegenerative diseases
viernes, diciembre 25, 2009
Author(s):
Nicola Ticozzi,Ashley Lyn LeClerc,Marka van Blitterswijk,Pamela Keagle,Diane M McKenna-Yasek,Peter C Sapp,Vincenzo Silani,Anne-Marie Wills,Robert H Brown,John E Landers
Source:
Neurobiology of aging
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1
viernes, noviembre 20, 2009
Author(s):
Florian S Eichler,Thorsten Hornemann,Alex McCampbell,Dika Kuljis,Anke Penno,Daniel Vardeh,Eric Tamrazian,Kevin Garofalo,Ho-Joon Lee,Lohit Kini,Martin Selig,Matthew Frosch,Ken Gable,Arnold von Eckardstein,Clifford J Woolf,Guiman Guan,Jeffrey M Harmon,Teresa M Dunn,Robert H Brown
Source:
The Journal of neuroscience : the official journal of the Society for Neuroscience
Insect GDNF:TTC fusion protein improves delivery of GDNF to mouse CNS
martes, octubre 27, 2009
Author(s):
Jianhong Li,Ru-Ju Chian,Ilknur Ay,Brenda B Kashi,Samuel A Celia,Eric Tamrazian,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
Source:
Biochemical and biophysical research communications
Axonal transport defects in neurodegenerative diseases
viernes, octubre 16, 2009
Author(s):
Gerardo A Morfini,Matthew Burns,Lester I Binder,Nicholas M Kanaan,Nichole LaPointe,Daryl A Bosco,Robert H Brown,Hannah Brown,Ashutosh Tiwari,Lawrence Hayward,Julia Edgar,Klaus-Armin Nave,James Garberrn,Yuka Atagi,Yuyu Song,Gustavo Pigino,Scott T Brady
Source:
The Journal of neuroscience : the official journal of the Society for Neuroscience
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
martes, septiembre 08, 2009
Author(s):
Michael A van Es,Jan H Veldink,Christiaan G J Saris,Hylke M Blauw,Paul W J van Vught,Anna Birve,Robin Lemmens,Helenius J Schelhaas,Ewout J N Groen,Mark H B Huisman,Anneke J van der Kooi,Marianne de Visser,Caroline Dahlberg,Karol Estrada,Fernando Rivadeneira,Albert Hofman,Machiel J Zwarts,Perry T C van Doormaal,Dan Rujescu,Eric Strengman,Ina Giegling,Pierandrea Muglia,Barbara Tomik,Agnieszka Slowik,Andre G Uitterlinden,Corinna Hendrich,Stefan Waibel,Thomas Meyer,Albert C Ludolph,Jonathan D Glass,Shaun Purcell,Sven Cichon,Markus M Nöthen,H-Erich Wichmann,Stefan Schreiber,Sita H H M Vermeulen,Lambertus A Kiemeney,John H J Wokke,Simon Cronin,Russell L McLaughlin,Orla Hardiman,Katsumi Fumoto,R Jeroen Pasterkamp,Vincent Meininger,Judith Melki,P Nigel Leigh,Christopher E Shaw,John E Landers,Ammar Al-Chalabi,Robert H Brown,Wim Robberecht,Peter M Andersen,Roel A Ophoff,Leonard H van den Berg
Source:
Nature genetics
DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS
miércoles, julio 15, 2009
Author(s):
Wendy J Broom,Daniel V Johnson,Manuel Garber,Peter M Andersen,Niall Lennon,John Landers,Chad Nusbaum,Carsten Russ,Robert H Brown
Source:
Neuroscience letters
IGF-1:tetanus toxin fragment C fusion protein improves delivery of IGF-1 to spinal cord but fails to prolong survival of ALS mice
miércoles, julio 01, 2009
Author(s):
Ru-Ju Chian,Jianhong Li,Ilknur Ay,Samuel A Celia,Brenda B Kashi,Eric Tamrazian,Jonathan C Matthews,Roderick T Bronson,Anthony Rossomando,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
Source:
Brain research
Recombinant GDNF: tetanus toxin fragment C fusion protein produced from insect cells
martes, mayo 26, 2009
Author(s):
Jianhong Li,Ru-Ju Chian,Ilknur Ay,Samuel A Celia,Brenda B Kashi,Eric Tamrazian,Jonathan C Matthews,Mary P Remington,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
Source:
Biochemical and biophysical research communications
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
miércoles, mayo 20, 2009
Author(s):
John E Landers,Judith Melki,Vincent Meininger,Jonathan D Glass,Leonard H van den Berg,Michael A van Es,Peter C Sapp,Paul W J van Vught,Diane M McKenna-Yasek,Hylke M Blauw,Ting-Jan Cho,Meraida Polak,Lijia Shi,Anne-Marie Wills,Wendy J Broom,Nicola Ticozzi,Vincenzo Silani,Aslihan Ozoguz,Ildefonso Rodriguez-Leyva,Jan H Veldink,Adrian J Ivinson,Christiaan G J Saris,Betsy A Hosler,Alayna Barnes-Nessa,Nicole Couture,John H J Wokke,Thomas J Kwiatkowski,Roel A Ophoff,Simon Cronin,Orla Hardiman,Frank P Diekstra,P Nigel Leigh,Christopher E Shaw,Claire L Simpson,Valerie K Hansen,John F Powell,Philippe Corcia,François Salachas,Simon Heath,Pilar Galan,Franck Georges,H Robert Horvitz,Mark Lathrop,Shaun Purcell,Ammar Al-Chalabi,Robert H Brown
Source:
Proceedings of the National Academy of Sciences of the United States of America
Serum ferritin and metal levels as risk factors for amyotrophic lateral sclerosis
miércoles, mayo 20, 2009
Author(s):
Muddasir Qureshi,Robert H Brown,Jack T Rogers,Merit E Cudkowicz
Source:
The open neurology journal
Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities
jueves, mayo 07, 2009
Author(s):
Gongshe Han,Sita D Gupta,Kenneth Gable,Somashekarappa Niranjanakumari,Prasun Moitra,Florian Eichler,Robert H Brown,Jeffrey M Harmon,Teresa M Dunn
Source:
Proceedings of the National Academy of Sciences of the United States of America
T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS
martes, noviembre 11, 2008
Author(s):
Isaac M Chiu,Adam Chen,Yi Zheng,Bela Kosaras,Stefanos A Tsiftsoglou,Timothy K Vartanian,Robert H Brown,Michael C Carroll
Source:
Proceedings of the National Academy of Sciences of the United States of America
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
martes, noviembre 11, 2008
Author(s):
Claire L Simpson,Robin Lemmens,Katarzyna Miskiewicz,Wendy J Broom,Valerie K Hansen,Paul W J van Vught,John E Landers,Peter Sapp,Ludo Van Den Bosch,Joanne Knight,Benjamin M Neale,Martin R Turner,Jan H Veldink,Roel A Ophoff,Vineeta B Tripathi,Ana Beleza,Meera N Shah,Petroula Proitsi,Annelies Van Hoecke,Peter Carmeliet,H Robert Horvitz,P Nigel Leigh,Christopher E Shaw,Leonard H van den Berg,Pak C Sham,John F Powell,Patrik Verstreken,Robert H Brown,Wim Robberecht,Ammar Al-Chalabi
Source:
Human molecular genetics
Neonatal neuronal circuitry shows hyperexcitable disturbance in a mouse model of the adult-onset neurodegenerative disease amyotrophic lateral sclerosis
viernes, octubre 24, 2008
Author(s):
Brigitte van Zundert,Marieke H Peuscher,Meri Hynynen,Adam Chen,Rachael L Neve,Robert H Brown,Martha Constantine-Paton,Mark C Bellingham
Source:
The Journal of neuroscience : the official journal of the Society for Neuroscience
Metabolomic analysis and signatures in motor neuron disease
martes, septiembre 30, 2008
Author(s):
Steve Rozen,Merit E Cudkowicz,Mikhail Bogdanov,Wayne R Matson,Bruce S Kristal,Chris Beecher,Scott Harrison,Paul Vouros,Jimmy Flarakos,Karen Vigneau-Callahan,Theodore D Matson,Kristyn M Newhall,M Flint Beal,Robert H Brown,Rima Kaddurah-Daouk
Source:
Metabolomics : Official journal of the Metabolomic Society
Developmental biology. Neuron research leaps ahead
sábado, agosto 30, 2008
Author(s):
Robert H Brown
Source:
Science (New York, N.Y.)
VEGF increases blood-brain barrier permeability to Evans blue dye and tetanus toxin fragment C but not adeno-associated virus in ALS mice
sábado, agosto 30, 2008
Author(s):
Ilknur Ay,Jonathan W Francis,Robert H Brown
Source:
Brain research
Phase 2 study of sodium phenylbutyrate in ALS
sábado, agosto 09, 2008
Author(s):
Merit E Cudkowicz,Patricia L Andres,Sally A Macdonald,Richard S Bedlack,Rabia Choudry,Robert H Brown,Hui Zhang,David A Schoenfeld,Jeremy Shefner,Samantha Matson,Wayne R Matson,Robert J Ferrante,Northeast ALS and National VA ALS Research Consortiums
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
A common haplotype within the PON1 promoter region is associated with sporadic ALS
sábado, julio 12, 2008
Author(s):
John E Landers,Lijia Shi,Ting-Jan Cho,Jonathan D Glass,Christopher E Shaw,P Nigel Leigh,Frank Diekstra,Meraida Polak,Ildefonso Rodriguez-Leyva,Stephan Niemann,Bryan J Traynor,Diane McKenna-Yasek,Peter C Sapp,Ammar Al-Chalabi,Anne-Marie A Wills,Robert H Brown
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Medications and laboratory parameters as prognostic factors in amyotrophic lateral sclerosis
miércoles, julio 09, 2008
Author(s):
Muddasir Qureshi,Amy Shui,Allitia B Dibernardo,Robert H Brown,David A Schoenfeld,Merit E Cudkowicz
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis
miércoles, julio 09, 2008
Author(s):
Wendy J Broom,Matthew Greenway,Ghazaleh Sadri-Vakili,Carsten Russ,Kristen E Auwarter,Kelly E Glajch,Nicolas Dupre,Robert J Swingler,Shaun Purcell,Caroline Hayward,Peter C Sapp,Diane McKenna-Yasek,Paul N Valdmanis,Jean-Pierre Bouchard,Vincent Meininger,Betsy A Hosler,Jonathan D Glass,Meraida Polack,Guy A Rouleau,Jang-Ho J Cha,Orla Hardiman,Robert H Brown
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Thrombopoietin is ineffective in a mouse model of motor neuron disease
miércoles, julio 09, 2008
Author(s):
Andrew Caraganis,Susanna Benn,Merit Cudkowicz,Robert H Brown
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS
miércoles, junio 25, 2008
Author(s):
Miriam H Meisler,Carsten Russ,Kate T Montgomery,Matthew Greenway,Sean Ennis,Orla Hardiman,Denise A Figlewicz,Nicole R Quenneville,Elizabeth Conibear,Robert H Brown
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Ro5-4864 promotes neonatal motor neuron survival and nerve regeneration in adult rats
jueves, marzo 13, 2008
Author(s):
Charles Mills,Milan Makwana,Adam Wallace,Susanna Benn,Helmut Schmidt,Irmgard Tegeder,Michael Costigan,Robert H Brown,Gennadij Raivich,Clifford J Woolf
Source:
The European journal of neuroscience
Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness
miércoles, marzo 05, 2008
Author(s):
Lawrence J Hayward,Joanna S Kim,Ming-Yang Lee,Hongru Zhou,Ji W Kim,Kumudini Misra,Mohammad Salajegheh,Fen-fen Wu,Chie Matsuda,Valerie Reid,Didier Cros,Eric P Hoffman,Jean-Marc Renaud,Stephen C Cannon,Robert H Brown
Source:
The Journal of clinical investigation
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
viernes, diciembre 07, 2007
Author(s):
Katrina Gwinn,Roderick A Corriveau,Hiroshi Mitsumoto,Kate Bednarz,Robert H Brown,Merit Cudkowicz,Paul H Gordon,John Hardy,Edward J Kasarskis,Petra Kaufmann,Robert Miller,Eric Sorenson,Rup Tandan,Bryan J Traynor,Josefina Nash,Alex Sherman,Matthew D Mailman,James Ostell,Lucie Bruijn,Valerie Cwik,Stephen S Rich,Andrew Singleton,Larry Refolo,Jaime Andrews,Ran Zhang,Robin Conwit,Margaret A Keller,ALS Research Group
Source:
PloS one
Genetic ablation of NMDA receptor subunit NR3B in mouse reveals motoneuronal and nonmotoneuronal phenotypes
viernes, septiembre 21, 2007
Author(s):
Stephan Niemann,Hiroaki Kanki,Yasuyuki Fukui,Keizo Takao,Masahiro Fukaya,Meri N Hynynen,Michael J Churchill,Jeremy M Shefner,Roderick T Bronson,Robert H Brown,Masahiko Watanabe,Tsuyoshi Miyakawa,Shigeyoshi Itohara,Yasunori Hayashi
Source:
The European journal of neuroscience
Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons
sábado, septiembre 15, 2007
Author(s):
Seth A Townsend,Gilad D Evrony,Frank X Gu,Martin P Schulz,Robert H Brown,Robert Langer
Source:
Biomaterials
A caspase-3-cleaved fragment of the glial glutamate transporter EAAT2 is sumoylated and targeted to promyelocytic leukemia nuclear bodies in mutant SOD1-linked amyotrophic lateral sclerosis
sábado, septiembre 08, 2007
Author(s):
Stuart L Gibb,William Boston-Howes,Zeno S Lavina,Stefano Gustincich,Robert H Brown,Piera Pasinelli,Davide Trotti
Source:
The Journal of biological chemistry
Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis
viernes, julio 20, 2007
Author(s):
Stephan Niemann,Wendy J Broom,Robert H Brown
Source:
Muscle & nerve
A familial form of pallidoluysionigral degeneration and amyotrophic lateral sclerosis with divergent clinical presentations
miércoles, julio 11, 2007
Author(s):
Carlos Portera-Cailliau,Carsten Russ,Robert H Brown,Andrew E Budson,Jean-Paul Vonsattel,Rebecca D Folkerth,Joseph C Corbo
Source:
Journal of neuropathology and experimental neurology
Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality
miércoles, junio 06, 2007
Author(s):
Isabella Fogh,Fruhling Rijsdijk,Peter M Andersen,Pak C Sham,Joanne Knight,Benjamin Neale,Diane McKenna-Yasek,Vincenzo Silani,Robert H Brown,John F Powell,Ammar Al-Chalabi
Source:
Neurogenetics
Dysferlin in membrane trafficking and patch repair
miércoles, junio 06, 2007
Author(s):
Louise Glover,Robert H Brown
Source:
Traffic (Copenhagen, Denmark)
Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis
martes, abril 24, 2007
Author(s):
Shohei Watanabe,Seiichi Nagano,James Duce,Mahmoud Kiaei,Qiao-Xin Li,Stephanie M Tucker,Ashutosh Tiwari,Robert H Brown,M Flint Beal,Lawrence J Hayward,Valeria C Culotta,Satoshi Yoshihara,Saburo Sakoda,Ashley I Bush
Source:
Free radical biology & medicine
Case records of the Massachusetts General Hospital. Case 35-2006. A newborn boy with hypotonia
viernes, noviembre 17, 2006
Author(s):
Robert H Brown,P Ellen Grant,Christopher R Pierson
Source:
The New England journal of medicine
A glial cell line-derived neurotrophic factor (GDNF):tetanus toxin fragment C protein conjugate improves delivery of GDNF to spinal cord motor neurons in mice
viernes, octubre 06, 2006
Author(s):
Kristin E Larsen,Susanna C Benn,Ilknur Ay,Ru-Ju Chian,Samuel A Celia,Mary P Remington,Michelle Bejarano,Meiqin Liu,Joshua Ross,Paul Carmillo,Dinah Sah,Kester A Phillips,David Sulzer,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
Source:
Brain research
Two approaches to drug discovery in SOD1-mediated ALS
viernes, agosto 25, 2006
Author(s):
Wendy J Broom,Kristen E Auwarter,Jake Ni,Deborah E Russel,Li-An Yeh,Michele M Maxwell,Marcie Glicksman,Aleksey G Kazantsev,Robert H Brown
Source:
Journal of biomolecular screening
Motor unit number estimation predicts disease onset and survival in a transgenic mouse model of amyotrophic lateral sclerosis
martes, agosto 08, 2006
Author(s):
Jeremy M Shefner,Merit Cudkowicz,Robert H Brown
Source:
Muscle & nerve
Case records of the Massachusetts General Hospital. Case 22-2006--a 77-year-old man with a rapidly progressive gait disorder
viernes, julio 21, 2006
Author(s):
Gilmore N O'Neill,R Gilberto Gonzalez,Didier P Cros,Robert H Ackerman,Robert H Brown,Anat Stemmer-Rachamimov
Source:
The New England journal of medicine
Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs
viernes, junio 16, 2006
Author(s):
William J Triggs,Robert H Brown,Daniel L Menkes
Source:
The New England journal of medicine
Calpainopathy and eosinophilic myositis
miércoles, mayo 24, 2006
Author(s):
Robert H Brown,Anthony Amato
Source:
Annals of neurology
Caspase-3 cleaves and inactivates the glutamate transporter EAAT2
miércoles, marzo 29, 2006
Author(s):
William Boston-Howes,Stuart L Gibb,Eric O Williams,Piera Pasinelli,Robert H Brown,Davide Trotti
Source:
The Journal of biological chemistry
No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach
martes, marzo 21, 2006
Author(s):
Paresh R Shah,Azlina Ahmad-Annuar,Kourosh R Ahmadi,Carsten Russ,Peter C Sapp,H Robert Horvitz,Robert H Brown,David B Goldstein,Elizabeth M C Fisher
Source:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
martes, febrero 28, 2006
Author(s):
Matthew J Greenway,Peter M Andersen,Carsten Russ,Sean Ennis,Susan Cashman,Colette Donaghy,Victor Patterson,Robert Swingler,Dairin Kieran,Jochen Prehn,Karen E Morrison,Andrew Green,K Ravi Acharya,Robert H Brown,Orla Hardiman
Source:
Nature genetics
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
sábado, diciembre 03, 2005
Author(s):
Shinji Hadano,Susanna C Benn,Shigeru Kakuta,Asako Otomo,Katsuko Sudo,Ryota Kunita,Kyoko Suzuki-Utsunomiya,Hikaru Mizumura,Jeremy M Shefner,Gregory A Cox,Yoichiro Iwakura,Robert H Brown,Joh-E Ikeda
Source:
Human molecular genetics
Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis
miércoles, noviembre 30, 2005
Author(s):
Srikanth Ranganathan,Eric Williams,Philip Ganchev,Vanathi Gopalakrishnan,David Lacomis,Leo Urbinelli,Kristyn Newhall,Merit E Cudkowicz,Robert H Brown,Robert Bowser
Source:
Journal of neurochemistry
Tetanus toxin fragment C fusion facilitates protein delivery to CNS neurons from cerebrospinal fluid in mice
martes, noviembre 08, 2005
Author(s):
Susanna C Benn,Ilknur Ay,Elena Bastia,Ru-Ju Chian,Samuel A Celia,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
Source:
Journal of neurochemistry
Inhibition of SOD1 expression by mitomycin C is a non-specific consequence of cellular toxicity
miércoles, octubre 26, 2005
Author(s):
Wendy J Broom,Ilknur Ay,Piera Pasinelli,Robert H Brown
Source:
Neuroscience letters
Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy
sábado, octubre 08, 2005
Author(s):
Alexander McCampbell,David Truong,Daniel C Broom,Andrew Allchorne,Ken Gable,Roy G Cutler,Mark P Mattson,Clifford J Woolf,Matthew P Frosch,Jeffrey M Harmon,Teresa M Dunn,Robert H Brown
Source:
Human molecular genetics
Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes
jueves, septiembre 22, 2005
Author(s):
Wendy J Broom,Carsten Russ,Peter C Sapp,Diane McKenna-Yasek,Betsy A Hosler,Peter M Andersen,Robert H Brown
Source:
Neuroscience letters
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis
martes, agosto 09, 2005
Author(s):
Michael L Garcia,Andrew B Singleton,Dena Hernandez,Christopher M Ward,Crystal Evey,Peter A Sapp,John Hardy,Robert H Brown,Don W Cleveland
Source:
Neurobiology of disease
Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice
martes, junio 07, 2005
Author(s):
Hoon Ryu,Karen Smith,Sandra I Camelo,Isabel Carreras,Junghee Lee,Antonio H Iglesias,Fernando Dangond,Kerry A Cormier,Merit E Cudkowicz,Robert H Brown,Robert J Ferrante
Source:
Journal of neurochemistry
Amyotrophic lateral sclerosis--a new role for old drugs
viernes, abril 01, 2005
Author(s):
Robert H Brown
Source:
The New England journal of medicine
Small-molecule-mediated stabilization of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants against unfolding and aggregation
miércoles, marzo 02, 2005
Author(s):
Soumya S Ray,Richard J Nowak,Robert H Brown,Peter T Lansbury
Source:
Proceedings of the National Academy of Sciences of the United States of America
Human umbilical cord blood cells differentiate into muscle in sjl muscular dystrophy mice
sábado, noviembre 13, 2004
Author(s):
Kimi Y Kong,Jingmei Ren,Morey Kraus,Seth P Finklestein,Robert H Brown
Source:
Stem cells (Dayton, Ohio)
Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency
viernes, julio 16, 2004
Author(s):
Mengfatt Ho,Cristina M Post,Leah R Donahue,Hart G W Lidov,Roderick T Bronson,Holly Goolsby,Simon C Watkins,Gregory A Cox,Robert H Brown
Source:
Human molecular genetics
Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria
martes, julio 06, 2004
Author(s):
Piera Pasinelli,Mary Elizabeth Belford,Niall Lennon,Brian J Bacskai,Bradley T Hyman,Davide Trotti,Robert H Brown
Source:
Neuron
Prophylactic creatine administration mediates neuroprotection in cerebral ischemia in mice
viernes, julio 02, 2004
Author(s):
Shan Zhu,Mingwei Li,Bryan E Figueroa,Aijian Liu,Irina G Stavrovskaya,Piera Pasinelli,M Flint Beal,Robert H Brown,Bruce S Kristal,Robert J Ferrante,Robert M Friedlander
Source:
The Journal of neuroscience : the official journal of the Society for Neuroscience
An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis
miércoles, abril 28, 2004
Author(s):
Soumya S Ray,Richard J Nowak,Konstantin Strokovich,Robert H Brown,Thomas Walz,Peter T Lansbury
Source:
Biochemistry
Putting the heat on ALS
viernes, abril 02, 2004
Author(s):
Susanna C Benn,Robert H Brown
Source:
Nature medicine
RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells
jueves, febrero 26, 2004
Author(s):
Michele M Maxwell,Piera Pasinelli,Aleksey G Kazantsev,Robert H Brown
Source:
Proceedings of the National Academy of Sciences of the United States of America
A survival motor neuron:tetanus toxin fragment C fusion protein for the targeted delivery of SMN protein to neurons
jueves, diciembre 04, 2003
Author(s):
Jonathan W Francis,Dayse Figueiredo,Johanna C vanderSpek,Laura M Ayala,Young Seon Kim,Mary P Remington,Philip J Young,Christian L Lorson,Shinichiro Ikebe,Paul S Fishman,Robert H Brown
Source:
Brain research
Molecular signature of late-stage human ALS revealed by expression profiling of postmortem spinal cord gray matter
miércoles, diciembre 03, 2003
Author(s):
Fernando Dangond,Daehee Hwang,Sandra Camelo,Piera Pasinelli,Matthew P Frosch,Gregory Stephanopoulos,George Stephanopoulos,Robert H Brown,Steven R Gullans
Source:
Physiological genomics
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
viernes, septiembre 26, 2003
Author(s):
Peter M Andersen,Katherine B Sims,Winnie W Xin,Rosemary Kiely,Gilmore O'Neill,John Ravits,Erik Pioro,Yadollah Harati,Richard D Brower,Johanan S Levine,Hedvika U Heinicke,William Seltzer,Michael Boss,Robert H Brown
Source:
Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases
Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing
jueves, septiembre 25, 2003
Author(s):
Niall J Lennon,Alvin Kho,Brian J Bacskai,Sarah L Perlmutter,Bradley T Hyman,Robert H Brown
Source:
The Journal of biological chemistry
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis
martes, julio 15, 2003
Author(s):
Peter C Sapp,Betsy A Hosler,Diane McKenna-Yasek,Wendy Chin,Amity Gann,Hilary Genise,Julie Gorenstein,Michael Huang,Wen Sailer,Meg Scheffler,Marianne Valesky,Jonathan L Haines,Margaret Pericak-Vance,Teepu Siddique,H Robert Horvitz,Robert H Brown
Source:
American journal of human genetics
Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis
jueves, julio 03, 2003
Author(s):
Ammar Al-Chalabi,Margaret D Scheffler,Bradley N Smith,Matthew J Parton,Merit E Cudkowicz,Peter M Andersen,Douglas L Hayden,Valerie K Hansen,Martin R Turner,Christopher E Shaw,P Nigel Leigh,Robert H Brown
Source:
Annals of neurology
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis
miércoles, mayo 28, 2003
Author(s):
Ammar Al-Chalabi,Valerie K Hansen,Claire L Simpson,Jing Xi,Betsy A Hosler,John F Powell,Diane McKenna-Yasek,Christopher E Shaw,P Nigel Leigh,Robert H Brown
Source:
Neurogenetics
Mutant dynactin in motor neuron disease
martes, marzo 11, 2003
Author(s):
Imke Puls,Catherine Jonnakuty,Bernadette H LaMonte,Erika L F Holzbaur,Mariko Tokito,Eric Mann,Mary Kay Floeter,Kimberly Bidus,Dennis Drayna,Shin J Oh,Robert H Brown,Christy L Ludlow,Kenneth H Fischbeck
Source:
Nature genetics
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis
miércoles, noviembre 06, 2002
Author(s):
Khemissa Bejaoui,Yoshikazu Uchida,Satoshi Yasuda,Mengfatt Ho,Masahiro Nishijima,Robert H Brown,Walter M Holleran,Kentaro Hanada
Source:
The Journal of clinical investigation
A novel mutation in the spastin gene in a family with spastic paraplegia
jueves, mayo 23, 2002
Author(s):
Mitsuya Morita,Mac Ho,Betsy A Hosler,Diane McKenna-Yasek,Robert H Brown
Source:
Neuroscience letters
Familial amyotrophic lateral sclerosis-associated mutations decrease the thermal stability of distinctly metallated species of human copper/zinc superoxide dismutase
jueves, febrero 21, 2002
Author(s):
Jorge A Rodriguez,Joan S Valentine,Daryl K Eggers,James A Roe,Ashutosh Tiwari,Robert H Brown,Lawrence J Hayward
Source:
The Journal of biological chemistry
Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis
jueves, febrero 21, 2002
Author(s):
Lawrence J Hayward,Jorge A Rodriguez,Ji W Kim,Ashutosh Tiwari,Joy J Goto,Diane E Cabelli,Joan Selverstone Valentine,Robert H Brown
Source:
The Journal of biological chemistry
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy
jueves, enero 10, 2002
Author(s):
Mengfatt Ho,Eduard Gallardo,Diane McKenna-Yasek,Noemi De Luna,Isabel Illa,Robert H Brown
Source:
Annals of neurology
Comparison of incremental with multipoint MUNE methods in transgenic ALS mice
miércoles, diciembre 26, 2001
Author(s):
Jeremy M Shefner,Merit E Cudkowicz,Robert H Brown
Source:
Muscle & nerve
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q
miércoles, noviembre 14, 2001
Author(s):
Collette K Hand,Jawad Khoris,François Salachas,François Gros-Louis,Ana Amélia Simões Lopes,Veronique Mayeux-Portas,Carl G Brewer,Robert H Brown,Vincent Meininger,William Camu,Guy A Rouleau
Source:
American journal of human genetics
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