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🐜
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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
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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
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11 |
2009 |
11
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|
🐜
|
Characterising the RNA targets and position-dependent splicing regulation by TDP-43; implications for neurodegenerative diseases
15 auth.
James R. Tollervey,
Tomaž Curk,
B. Rogelj,
M. Briese,
Matteo Cereda,
M. Kayikci,
T. Hortobágyi,
A. Nishimura,
V. Župunski,
R. Patani,
...
S. Chandran,
G. Rot,
B. Zupan,
C. Shaw,
J. Ule
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10 |
2011 |
10
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|
🐜
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
177 auth.
W. van Rheenen,
A. Shatunov,
Annelot M. Dekker,
R. Mclaughlin,
F. Diekstra,
S. Pulit,
Rick A. A. van der Spek,
U. Võsa,
S. de Jong,
M. Robinson,
Jian Yang,
I. Fogh,
P. T. V. van Doormaal,
Gijs H. P. Tazelaar,
M. Koppers,
...
A. Blokhuis,
W. Sproviero,
Ashley R. Jones,
K. Kenna,
K. V. van Eijk,
O. Harschnitz,
Raymond D. Schellevis,
W. Brands,
J. Medić,
A. Menelaou,
A. Vajda,
N. Ticozzi,
Kuang Lin,
B. Rogelj,
Katarina Vrabec,
M. Ravnik-Glavač,
B. Koritnik,
J. Zidar,
L. Leonardis,
L. D. Grošelj,
S. Millecamps,
F. Salachas,
V. Meininger,
M. de Carvalho,
S. Pinto,
J. Mora,
R. Rojas‐García,
M. Polak,
S. Chandran,
Shuna Colville,
R. Swingler,
K. Morrison,
P. Shaw,
J. Hardy,
R. Orrell,
A. Pittman,
K. Sidle,
P. Fratta,
A. Malaspina,
S. Topp,
S. Petri,
S. Abdulla,
C. Drepper,
M. Sendtner,
T. Meyer,
R. Ophoff,
K. Staats,
M. Wiedau-Pazos,
C. lomen-Hoerth,
V. V. Van Deerlin,
J. Trojanowski,
L. Elman,
L. McCluskey,
A. Başak,
Ceren Tunca,
Hamid Hamzeiy,
Y. Parman,
T. Meitinger,
P. Lichtner,
Milena Radivojkov-Blagojević,
C. Andres,
Cindy Maurel,
G. Bensimon,
B. Landwehrmeyer,
A. Brice,
C. Payan,
Safa Saker-Delye,
A. Dürr,
N. Wood,
L. Tittmann,
W. Lieb,
A. Franke,
M. Rietschel,
S. Cichon,
M. Nöthen,
P. Amouyel,
C. Tzourio,
J. Dartigues,
A. Uitterlinden,
F. Rivadeneira,
K. Estrada,
A. Hofman,
C. Curtis,
H. Blauw,
A. J. van der Kooi,
M. de Visser,
A. Goris,
Markus Weber,
C. Shaw,
Bradley N. Smith,
O. Pansarasa,
Cristina Cereda,
R. del Bo,
G. Comi,
S. D'alfonso,
C. Bertolin,
G. Soraru',
L. Mazzini,
V. Pensato,
C. Gellera,
C. Tiloca,
A. Ratti,
A. Calvo,
C. Moglia,
M. Brunetti,
S. Arcuti,
R. Capozzo,
C. Zecca,
C. Lunetta,
S. Penco,
N. Riva,
A. Padovani,
M. Filosto,
B. Muller,
Robbert Jan Stuit,
I. Blair,
Katharine Y. Zhang,
E. McCann,
J. Fifita,
G. Nicholson,
D. Rowe,
R. Pamphlett,
M. Kiernan,
J. Grosskreutz,
O. Witte,
T. Ringer,
T. Prell,
B. Stubendorff,
I. Kurth,
C. Hübner,
P. Leigh,
F. Casale,
A. Chiò,
E. Beghi,
E. Pupillo,
R. Tortelli,
G. Logroscino,
J. Powell,
A. Ludolph,
Jochen H Weishaupt,
W. Robberecht,
P. van Damme,
L. Franke,
T. Pers,
Robert H. Brown,
J. Glass,
J. Landers,
O. Hardiman,
P. Andersen,
P. Corcia,
P. Vourc'h,
V. Silani,
N. Wray,
P. Visscher,
P. D. de Bakker,
M. V. van Es,
R. Pasterkamp,
C. Lewis,
G. Breen,
A. Al-Chalabi,
L. H. van den Berg,
J. Veldink
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8 |
2016 |
8
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|
🐜
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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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p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
10 auth.
S. Al-Sarraj,
A. King,
C. Troakes,
Bradley N. Smith,
S. Maekawa,
I. Bodi,
...
B. Rogelj,
A. Al-Chalabi,
T. Hortobágyi,
C. Shaw
|
8 |
2011 |
8
🐜
|
|
🐜
|
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
192 auth.
W. V. Rheenen,
Rick A. A. van der Spek,
Mark K. Bakker,
J. Vugt,
P. Hop,
R. Zwamborn,
N. D. Klein,
H. Westra,
O. Bakker,
Patrick Deelen,
Gemma L Shireby,
E. Hannon,
M. Moisse,
D. Baird,
Restuadi Restuadi,
...
E. Dolzhenko,
Annelot M. Dekker,
Klara Gawor,
H. Westeneng,
Gijs H. P. Tazelaar,
K. V. van Eijk,
M. Kooyman,
Ross P. Byrne,
Mark A. Doherty,
M. Heverin,
Ahmad Al Khleifat,
A. Iacoangeli,
A. Shatunov,
N. Ticozzi,
Johnathan Cooper-Knock,
Bradley N. Smith,
M. Gromicho,
S. Chandran,
S. Pal,
K. Morrison,
P. Shaw,
J. Hardy,
R. Orrell,
M. Sendtner,
Thomas Meyer,
Nazlı A Başak,
A. J. van der Kooi,
A. Ratti,
I. Fogh,
C. Gellera,
Giuseppe Lauria Pinter,
S. Corti,
Cristina Cereda,
D. Sproviero,
S. D'alfonso,
G. Soraru',
G. Siciliano,
M. Filosto,
A. Padovani,
A. Chiò,
A. Calvo,
C. Moglia,
M. Brunetti,
A. Canosa,
M. Grassano,
E. Beghi,
E. Pupillo,
G. Logroscino,
B. Nefussy,
Alma Osmanovic,
Angelica Nordin,
Y. Lerner,
Michal Zabari,
M. Gotkine,
R. Baloh,
S. Bell,
P. Vourc'h,
P. Corcia,
P. Couratier,
S. Millecamps,
V. Meininger,
F. Salachas,
J. M. Pardina,
A. Assialioui,
R. Rojas‐García,
P. Dion,
J. Ross,
A. Ludolph,
Jochen H Weishaupt,
David Brenner,
A. Freischmidt,
G. Bensimon,
A. Brice,
A. Dürr,
C. Payan,
Safa Saker-Delye,
N. Wood,
S. Topp,
R. Rademakers,
L. Tittmann,
W. Lieb,
A. Franke,
S. Ripke,
A. Braun,
J. Kraft,
D. Whiteman,
C. Olsen,
A. Uitterlinden,
A. Hofman,
M. Rietschel,
S. Cichon,
M. Nöthen,
P. Amouyel,
B. Traynor,
A. Singleton,
Miguel Mitne Neto,
Ruben J. Cauchi,
R. Ophoff,
M. Wiedau-Pazos,
C. lomen-Hoerth,
V. V. Van Deerlin,
J. Grosskreutz,
A. Rödiger,
N. Gaur,
Alexander Jörk,
Tabea Barthel,
Erik Theele,
B. Ilse,
B. Stubendorff,
O. Witte,
R. Steinbach,
C. Hübner,
C. Graff,
L. Brylev,
V. Fominykh,
V. Demeshonok,
A. Ataulina,
B. Rogelj,
B. Koritnik,
J. Zidar,
M. Ravnik-Glavač,
D. Glavač,
Z. Stevic,
V. Drory,
M. Povedano,
I. Blair,
M. Kiernan,
Beben Benyamin,
R. Henderson,
S. Furlong,
S. Mathers,
P. Mccombe,
M. Needham,
S. Ngo,
G. Nicholson,
R. Pamphlett,
D. Rowe,
F. Steyn,
K. Williams,
K. Mather,
P. Sachdev,
A. Henders,
L. Wallace,
M. Carvalho,
S. Pinto,
S. Petri,
Markus Weber,
G. Rouleau,
V. Silani,
C. Curtis,
G. Breen,
J. Glass,
Robert H. Brown,
J. Landers,
C. Shaw,
P. Andersen,
E. Groen,
M. A. Es,
R. Pasterkamp,
Dongsheng Fan,
F. Garton,
A. McRae,
G. Davey Smith,
T. Gaunt,
M. Eberle,
J. Mill,
R. Mclaughlin,
O. Hardiman,
K. Kenna,
N. Wray,
E. Tsai,
H. Runz,
L. Franke,
A. Al-Chalabi,
P. Damme,
L. H. van den Berg,
J. Veldink
|
8 |
2021 |
8
🐜
|
|
🦁
|
Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain
15 auth.
B. Rogelj,
L. E. Easton,
G. Bogu,
L. Stanton,
G. Rot,
Tomaž Curk,
B. Zupan,
Y. Sugimoto,
Miha Modic,
Nejc Haberman,
...
James R. Tollervey,
R. Fujii,
T. Takumi,
C. Shaw,
J. Ule
|
8 |
2012 |
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
🐜
|
|
🐜
|
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
🐜
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|
🐜
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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
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|
|
🐜
|
Analysis of alternative splicing associated with aging and neurodegeneration in the human brain.
14 auth.
James R. Tollervey,
Zhen Wang,
T. Hortobágyi,
Joshua T. Witten,
K. Zarnack,
M. Kayikci,
Tyson A. Clark,
A. Schweitzer,
G. Rot,
Tomaž Curk,
...
B. Zupan,
B. Rogelj,
C. Shaw,
J. Ule
|
7 |
2011 |
7
🐜
|
