|
🐜
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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
21 auth.
J. Sreedharan,
I. Blair,
V. Tripathi,
Xun Hu,
C. Vance,
B. Rogelj,
S. Ackerley,
S. Ackerley,
J. Durnall,
K. Williams,
...
E. Buratti,
F. Baralle,
J. Belleroche,
J. Mitchell,
P. Leigh,
A. Al-Chalabi,
C. Miller,
C. Miller,
G. Nicholson,
G. Nicholson,
C. Shaw
|
11 |
2008 |
11
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|
🦁
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Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
24 auth.
C. Vance,
B. Rogelj,
T. Hortobágyi,
K. D. Vos,
A. Nishimura,
J. Sreedharan,
Xun Hu,
Bradley N. Smith,
D. Ruddy,
Paul Wright,
...
J. Ganesalingam,
K. Williams,
V. Tripathi,
Safa Al-Saraj,
A. Al-Chalabi,
P. Leigh,
I. Blair,
G. Nicholson,
G. Nicholson,
J. Belleroche,
J. Gallo,
C. Miller,
C. Miller,
C. Shaw
|
11 |
2009 |
11
🦁
|
|
🐜
|
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
20 auth.
Youn-bok Lee,
Han-Jou Chen,
J. Peres,
J. Gómez-Deza,
J. Attig,
M. Štalekar,
C. Troakes,
A. Nishimura,
Emma L. Scotter,
C. Vance,
...
Yoshitsugu Adachi,
V. Sardone,
Jack W. Miller,
Bradley N. Smith,
J. Gallo,
J. Ule,
F. Hirth,
B. Rogelj,
C. Houart,
C. Shaw
|
8 |
2013 |
8
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|
🐜
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Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis
31 auth.
Nicola J. Rutherford,
Yong-Jie Zhang,
M. Baker,
J. Gass,
N. Finch,
Ya-fei Xu,
H. Stewart,
B. Kelley,
K. Kuntz,
R. Crook,
J. Sreedharan,
C. Vance,
E. Sorenson,
C. Lippa,
E. Bigio,
...
D. Geschwind,
D. Knopman,
H. Mitsumoto,
R. Petersen,
N. Cashman,
M. Hutton,
C. Shaw,
K. Boylan,
B. Boeve,
N. Graff-Radford,
Z. Wszolek,
R. Caselli,
D. Dickson,
I. Mackenzie,
L. Petrucelli,
R. Rademakers
|
8 |
2008 |
8
🐜
|
|
🦁
|
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
13 auth.
C. Vance,
A. Al-Chalabi,
D. Ruddy,
Bradley N. Smith,
Xun Hu,
J. Sreedharan,
T. Siddique,
H. J. Schelhaas,
B. Kusters,
D. Troost,
...
F. Baas,
V. de Jong,
Christopher E. Shaw
|
8 |
2006 |
8
🦁
|
|
🐜
|
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic
430 auth.
A. Nicolas,
K. Kenna,
A. Renton,
N. Ticozzi,
F. Faghri,
Ruth Chia,
J. Dominov,
Brendan Kenna,
M. Nalls,
Pamela J. Keagle,
Alberto M. Rivera,
W. V. Rheenen,
N. Murphy,
J. Vugt,
Joshua T. Geiger,
...
R. V. D. Spek,
Hannah A. Pliner,
Shankaracharya,
Bradley N. Smith,
G. Marangi,
S. Topp,
Yevgeniya A. Abramzon,
A. Gkazi,
J. Eicher,
A. Kenna,
G. Mora,
A. Calvo,
L. Mazzini,
N. Riva,
J. Mandrioli,
C. Caponnetto,
S. Battistini,
P. Volanti,
V. Bella,
F. Conforti,
G. Borghero,
S. Messina,
I. Simone,
F. Trojsi,
F. Salvi,
F. Logullo,
S. D'alfonso,
L. Corrado,
M. Capasso,
L. Ferrucci,
C. Moreno,
S. Kamalakaran,
D. Goldstein,
A. Gitler,
Tim Harris,
R. Myers,
H. Phatnani,
R. Musunuri,
Uday S. Evani,
A. Abhyankar,
M. Zody,
J. Kaye,
S. Finkbeiner,
S. Wyman,
A. LeNail,
Leandro Lima,
E. Fraenkel,
C. Svendsen,
L. Thompson,
J. Eyk,
J. Berry,
Timothy A. Miller,
S. Kolb,
M. Cudkowicz,
E. Baxi,
M. Benatar,
J. Taylor,
E. Rampersaud,
Gang Wu,
J. Wuu,
G. Lauria,
F. Verde,
I. Fogh,
C. Tiloca,
G. Comi,
G. Soraru',
Cristina Cereda,
P. Corcia,
Hannu Laaksovirta,
L. Myllykangas,
Lilja Jansson,
M. Valori,
J. Ealing,
Hisham H. M. Hamdalla,
S. Rollinson,
S. Pickering-Brown,
R. Orrell,
K. Sidle,
A. Malaspina,
J. Hardy,
A. Singleton,
Janel O. Johnson,
S. Arepalli,
P. Sapp,
D. McKenna-Yasek,
M. Polak,
S. Asress,
S. Al-Sarraj,
A. King,
C. Troakes,
C. Vance,
J. Belleroche,
F. Baas,
A. T. Asbroek,
J. Muñoz-Blanco,
D. Hernandez,
Jinhui Ding,
J. R. Gibbs,
Sonja W. Scholz,
M. Floeter,
R. Campbell,
F. Landi,
R. Bowser,
S. Pulst,
J. Ravits,
D. Macgowan,
J. Kirby,
E. Pioro,
R. Pamphlett,
J. Broach,
Glenn Gerhard,
T. Dunckley,
C. Brady,
N. Kowall,
J. Troncoso,
I. Ber,
K. Mouzat,
S. Lumbroso,
T. Heiman-Patterson,
F. Kamel,
L. Bosch,
R. Baloh,
T. Strom,
T. Meitinger,
A. Shatunov,
K. V. Eijk,
M. Carvalho,
M. Kooyman,
Bas M Middelkoop,
M. Moisse,
R. Mclaughlin,
M. A. Es,
Markus Weber,
K. Boylan,
M. Blitterswijk,
R. Rademakers,
K. Morrison,
A. Başak,
J. Mora,
V. Drory,
P. Shaw,
M. Turner,
K. Talbot,
O. Hardiman,
K. Williams,
J. Fifita,
G. Nicholson,
I. Blair,
G. Rouleau,
J. Esteban-Pérez,
A. García-Redondo,
A. Al-Chalabi,
E. Rogaeva,
L. Zinman,
L. Ostrow,
N. Maragakis,
J. Rothstein,
Z. Simmons,
Johnathan Cooper-Knock,
A. Brice,
Stephen A. Goutman,
E. Feldman,
S. Gibson,
F. Taroni,
A. Ratti,
C. Gellera,
P. Damme,
W. Robberecht,
P. Fratta,
M. Sabatelli,
C. Lunetta,
A. Ludolph,
P. Andersen,
Jochen H Weishaupt,
W. Camu,
J. Trojanowski,
V. Deerlin,
Robert H. Brown,
L. H. Berg,
J. Veldink,
M. Harms,
J. Glass,
D. Stone,
P. Tienari,
V. Silani,
A. Chiò,
C. Shaw,
B. Traynor,
J. Landers,
I. Simone,
G. Logroscino,
I. Bartolomei,
M. R. Murru,
E. Costantino,
C. Pani,
Roberta Puddu,
Carla Caredda,
V. Piras,
S. Tranquilli,
S. Cuccu,
D. Corongiu,
M. Melis,
A. Milia,
F. Marrosu,
M. Marrosu,
G. Floris,
A. Cannas,
G. Mancardi,
P. Origone,
P. Mandich,
S. Cavallaro,
Kalliopi Marinou,
Riccardo Sideri,
S. Penco,
L. Mosca,
G. L. Pinter,
M. Corbo,
P. Carrera,
N. Fini,
Antonio Fasano,
L. Tremolizzo,
A. Arosio,
C. Ferrarese,
G. Tedeschi,
M. Monsurrò,
G. Piccirillo,
C. Femiano,
A. Ticca,
E. Ortu,
R. Spataro,
T. Colletti,
M. Zollino,
A. Conte,
M. Luigetti,
S. Lattante,
M. Santarelli,
A. Petrucci,
M. Pugliatti,
A. Pirisi,
Leslie D. Parish,
Patrizia Occhineri,
F. Giannini,
C. Ricci,
Michele Benigni,
Tea B. Cau,
D. Loi,
C. Moglia,
M. Brunetti,
M. Barberis,
G. Restagno,
F. Casale,
G. Marrali,
G. Fuda,
I. Ossola,
S. Cammarosano,
A. Canosa,
A. Ilardi,
U. Manera,
M. Grassano,
R. Tanel,
Fabrizio Pisano,
N. Shneider,
Stephen A. Goutman,
S. Chandran,
S. Pal,
G. Manousakis,
S. Appel,
E. Simpson,
Leo Wang,
S. Gibson,
R. Bedlack,
D. Lacomis,
D. Sareen,
A. Sherman,
L. Bruijn,
M. Penny,
A. Allen,
S. Appel,
R. Bedlack,
B. Boone,
Robert H. Brown,
J. Carulli,
A. Chesi,
W. Chung,
E. Cirulli,
G. Cooper,
Julien Couthouis,
A. Day-Williams,
P. Dion,
Yujun Han,
Sebastian Hayes,
Angela L. Jones,
Jonathan E. M. Keebler,
Brian J. Krueger,
Brittany N. Lasseigne,
S. Levy,
Yi-Fan Lu,
T. Maniatis,
S. Petrovski,
Alya R. Raphael,
Zhong Ren,
K. Sims,
J. Staropoli,
L. Waite,
Quanli Wang,
Jack R. Wimbish,
W. Xin,
J. Kwan,
J. Broach,
Ximena Arcila-Londono,
Eddie B. Lee,
N. Zaitlen,
G. Cox,
S. Finkbeiner,
E. Dardiotis,
E. Hornstein,
D. Macgowan,
T. Heiman-Patterson,
M. Hammell,
N. Patsopoulos,
J. Dubnau,
A. Nath,
S. Wyman,
A. LeNail,
J. Eyk,
S. Züchner,
R. Schule,
J. McCauley,
Sumaira Hussain,
Anne E. Cooley,
Marielle Wallace,
C. Clayman,
R. Barohn,
J. Statland,
J. Ravits,
A. Swenson,
Carlayne Jackson,
Jaya R. Trivedi,
Shaida Khan,
J. Katz,
Liberty Jenkins,
T. Burns,
K. Gwathmey,
J. Caress,
C. Mcmillan,
L. Elman,
E. Pioro,
J. Heckmann,
Y. So,
D. Walk,
S. Maiser,
Jinghui Zhang,
F. Marchi,
S. Corti,
M. Ceroni,
G. Siciliano,
M. Filosto,
Maurizio Inghilleri,
S. Peverelli,
C. Colombrita,
B. Poletti,
L. Maderna,
R. Bo,
S. Gagliardi,
G. Querin,
C. Bertolin,
V. Pensato,
B. Castellotti,
V. Meininger,
G. Besson,
E. Lagrange,
P. Clavelou,
N. Guy,
P. Couratier,
P. Vourch,
V. Danel,
E. Bernard,
G. Lemasson,
Ahmad Al Kheifat,
P. Andersen,
A. Chiò,
J. Cooper-Knock,
Annelot M. Dekker,
V. Drory,
Alberto G Redondo,
M. Gotkine,
Winston A Hide,
A. Iacoangeli,
J. Glass,
K. Kenna,
M. Kiernan,
J. Landers,
R. Mclaughlin,
J. Mill,
Miguel Mitne Neto,
Mattieu Moisse,
J. M. Pardina,
K. Morrison,
S. Newhouse,
S. Pinto,
S. Pulit,
P. Shaw,
Chris E. Shaw,
W. Sproviero,
Gijs H. P. Tazelaar,
P. Damme,
L. Berg,
R. V. D. Spek,
K. V. Eijk,
M. A. Es,
J. Vugt,
J. Veldink,
M. Zatz,
Denis C. Bauer,
Natalie A. Twine
|
8 |
2018 |
8
🐜
|
|
🐜
|
Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species
11 auth.
Emma L. Scotter,
C. Vance,
A. Nishimura,
Youn-bok Lee,
Han-Jou Chen,
H. Urwin,
...
V. Sardone,
Jacqueline C Mitchell,
B. Rogelj,
D. Rubinsztein,
C. Shaw
|
8 |
2014 |
8
🐜
|
|
🐜
|
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion
13 auth.
Jacqueline C Mitchell,
P. McGoldrick,
C. Vance,
T. Hortobágyi,
J. Sreedharan,
B. Rogelj,
Elizabeth L. Tudor,
Bradley N. Smith,
C. Klasen,
Christopher C. J. Miller,
...
J. Cooper,
L. Greensmith,
C. Shaw
|
8 |
2012 |
8
🐜
|
|
🐜
|
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
16 auth.
J. Mitchell,
Praveen G. Paul,
Han-Jou Chen,
A. Morris,
Miles Payling,
M. Falchi,
J. Habgood,
Stefania Panoutsou,
S. Winkler,
V. Tisato,
...
A. Hajitou,
Bradley N. Smith,
C. Vance,
C. Shaw,
N. Mazarakis,
J. de Belleroche
|
7 |
2010 |
7
🐜
|
|
🐜
|
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
38 auth.
A. Shatunov,
K. Mok,
S. Newhouse,
M. Weale,
Bradley N. Smith,
C. Vance,
L. Johnson,
J. Veldink,
M. Es,
L. H. Berg,
W. Robberecht,
P. Damme,
O. Hardiman,
A. Farmer,
C. Lewis,
...
C. Lewis,
A. Butler,
O. Abel,
P. Andersen,
I. Fogh,
V. Silani,
A. Chiò,
B. Traynor,
J. Melki,
V. Meininger,
J. Landers,
P. McGuffin,
J. Glass,
H. Pall,
P. Leigh,
J. Hardy,
Robert H. Brown,
John F. Powell,
R. Orrell,
K. Morrison,
Pamela J. Shaw,
Christopher Shaw,
A. Al-Chalabi
|
7 |
2010 |
7
🐜
|
|
🐜
|
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
81 auth.
K. Kenna,
P. T. V. van Doormaal,
Annelot M. Dekker,
N. Ticozzi,
Brendan Kenna,
F. Diekstra,
W. van Rheenen,
K. V. van Eijk,
Ashley R. Jones,
Pamela J. Keagle,
A. Shatunov,
W. Sproviero,
Bradley N. Smith,
M. V. van Es,
S. Topp,
...
A. Kenna,
Jack W. Miller,
C. Fallini,
C. Tiloca,
R. Mclaughlin,
C. Vance,
C. Troakes,
C. Colombrita,
G. Mora,
A. Calvo,
F. Verde,
S. Al-Sarraj,
A. King,
D. Calini,
J. de Belleroche,
F. Baas,
A. J. van der Kooi,
M. de Visser,
A. T. Ten Asbroek,
P. Sapp,
D. McKenna-Yasek,
M. Polak,
S. Asress,
J. Muñoz-Blanco,
T. Strom,
T. Meitinger,
K. Morrison,
G. Lauria,
K. Williams,
P. Leigh,
G. Nicholson,
I. Blair,
C. Leblond,
P. Dion,
G. Rouleau,
H. Pall,
P. Shaw,
M. Turner,
K. Talbot,
F. Taroni,
K. Boylan,
M. van Blitterswijk,
R. Rademakers,
J. Esteban-Pérez,
A. García-Redondo,
P. Van Damme,
W. Robberecht,
A. Chiò,
C. Gellera,
C. Drepper,
M. Sendtner,
A. Ratti,
J. Glass,
J. Mora,
Nazlı A Başak,
O. Hardiman,
A. Ludolph,
P. Andersen,
Jochen H Weishaupt,
Robert H. Brown,
A. Al-Chalabi,
V. Silani,
C. Shaw,
L. H. van den Berg,
J. Veldink,
J. Landers
|
7 |
2016 |
7
🐜
|
|
🐜
|
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
46 auth.
Bradley N. Smith,
S. Newhouse,
A. Shatunov,
C. Vance,
S. Topp,
L. Johnson,
Jack W. Miller,
Youn-bok Lee,
C. Troakes,
K. Scott,
Ashley Jones,
I. Gray,
Jamie Wright,
T. Hortobágyi,
S. Al-Sarraj,
...
B. Rogelj,
J. Powell,
Michelle K. Lupton,
S. Lovestone,
P. Sapp,
Markus Weber,
P. Nestor,
H. J. Schelhaas,
A. T. Asbroek,
V. Silani,
C. Gellera,
F. Taroni,
N. Ticozzi,
L. Berg,
J. Veldink,
P. V. Damme,
W. Robberecht,
P. Shaw,
J. Kirby,
H. Pall,
K. Morrison,
A. Morris,
J. Belleroche,
J. D. Jong,
F. Baas,
P. Andersen,
J. Landers,
Robert H. Brown,
M. Weale,
A. Al-Chalabi,
C. Shaw
|
7 |
2012 |
7
🐜
|
|
🦁
|
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules
13 auth.
C. Vance,
Emma L. Scotter,
A. Nishimura,
C. Troakes,
Jacqueline C Mitchell,
C. Kathe,
H. Urwin,
C. Manser,
Christopher C. J. Miller,
T. Hortobágyi,
...
M. Dragunow,
B. Rogelj,
C. Shaw
|
7 |
2013 |
7
🦁
|
