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🐜
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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
15 auth.
E. Kabashi,
P. Valdmanis,
P. Dion,
D. Spiegelman,
B. McConkey,
C. Velde,
J. Bouchard,
L. Lacomblez,
K. Pochigaeva,
F. Salachas,
...
P. Pradat,
W. Camu,
V. Meininger,
N. Dupré,
G. Rouleau
|
10 |
2008 |
10
🐜
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|
🐜
|
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
38 auth.
Chi-Hong Wu,
C. Fallini,
N. Ticozzi,
Pamela J. Keagle,
P. Sapp,
K. Piotrowska,
P. Lowe,
M. Koppers,
D. McKenna-Yasek,
Desiree M. Baron,
J. Kost,
P. Gonzalez-Perez,
A. Fox,
J. Adams,
F. Taroni,
...
C. Tiloca,
A. L. Leclerc,
S. C. Chafe,
D. Mangroo,
M. Moore,
J. Zitzewitz,
Zuoshang Xu,
L. H. van den Berg,
J. Glass,
G. Siciliano,
E. Cirulli,
D. Goldstein,
F. Salachas,
V. Meininger,
W. Rossoll,
A. Ratti,
C. Gellera,
D. A. Bosco,
G. Bassell,
V. Silani,
V. Drory,
Robert H. Brown,
J. Landers
|
9 |
2012 |
9
🐜
|
|
🐜
|
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
|
8 |
2016 |
8
🐜
|
|
🐜
|
Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
31 auth.
Timothy A. Miller,
M. Cudkowicz,
P. Shaw,
P. Andersen,
N. Atassi,
R. Bucelli,
A. Genge,
J. Glass,
S. Ladha,
Albert Ludolph,
N. Maragakis,
C. Mcdermott,
A. Pestronk,
J. Ravits,
F. Salachas,
...
R. Trudell,
P. van Damme,
L. Zinman,
C. Bennett,
R. Lane,
A. Sandrock,
H. Runz,
Danielle L. Graham,
H. Houshyar,
A. McCampbell,
I. Nestorov,
I. Chang,
M. McNeill,
L. Fanning,
S. Fradette,
T. Ferguson
|
8 |
2020 |
8
🐜
|
|
🐜
|
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
18 auth.
Lina Benajiba,
I. Le Ber,
A. Camuzat,
M. Lacoste,
C. Thomas-Antérion,
P. Couratier,
Solenn Legallic,
F. Salachas,
D. Hannequin,
M. Decousus,
...
L. Lacomblez,
E. Guedj,
V. Golfier,
W. Camu,
B. Dubois,
D. Campion,
V. Meininger,
A. Brice
|
8 |
2009 |
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
🐜
|
|
🐜
|
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
26 auth.
S. Millecamps,
F. Salachas,
C. Cazeneuve,
P. Gordon,
B. Bricka,
A. Camuzat,
L. Guillot-nöel,
Odile Russaouen,
G. Bruneteau,
P. Pradat,
N. le Forestier,
N. Vandenberghe,
V. Danel-Brunaud,
N. Guy,
C. Thauvin-Robinet,
...
L. Lacomblez,
P. Couratier,
D. Hannequin,
D. Seilhean,
I. Le Ber,
P. Corcia,
W. Camu,
A. Brice,
G. Rouleau,
E. Leguern,
V. Meininger
|
8 |
2010 |
8
🐜
|
|
🐜
|
Glutamate levels in cerebrospinal fluid in amyotrophic lateral sclerosis: a reappraisal using a new HPLC method with coulometric detection in a large cohort of patients
9 auth.
O. Spreux‐Varoquaux,
G. Bensimon,
L. Lacomblez,
F. Salachas,
P. Pradat,
N. Forestier,
...
A. Marouan,
M. Dib,
V. Meininger
|
8 |
2002 |
8
🐜
|
|
🐜
|
Sleep disorders and diaphragmatic function in patients with amyotrophic lateral sclerosis.
9 auth.
I. Arnulf,
T. Similowski,
F. Salachas,
L. Garma,
S. Mehiri,
V. Attali,
...
Valerie BEHIN-BELLHESEN,
V. Meininger,
J. Derenne
|
7 |
2000 |
7
🐜
|
|
🐜
|
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
13 auth.
E. Teyssou,
T. Takeda,
V. Lebon,
S. Boillée,
B. Doukouré,
G. Bataillon,
V. Sazdovitch,
C. Cazeneuve,
V. Meininger,
E. Leguern,
...
F. Salachas,
D. Seilhean,
S. Millecamps
|
7 |
2013 |
7
🐜
|
|
🐜
|
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
46 auth.
J. Landers,
J. Melki,
V. Meininger,
J. Glass,
L. H. van den Berg,
M. V. van Es,
P. Sapp,
P. V. van Vught,
D. McKenna-Yasek,
H. Blauw,
T. Cho,
M. Polak,
Lijia Shi,
A. Wills,
Wendy J. Broom,
...
N. Ticozzi,
V. Silani,
Aslihan Ozoguz,
Ildefonso Rodríguez-Leyva,
J. Veldink,
A. Ivinson,
C. Saris,
B. Hosler,
Alayna Barnes-Nessa,
Nicole R. Couture,
J. Wokke,
T. Kwiatkowski,
R. Ophoff,
S. Cronin,
O. Hardiman,
F. Diekstra,
P. Leigh,
C. Shaw,
Claire L. Simpson,
Valerie K. Hansen,
J. Powell,
P. Corcia,
F. Salachas,
S. Heath,
P. Galan,
F. Georges,
H. Horvitz,
M. Lathrop,
S. Purcell,
A. Al-Chalabi,
Robert H. Brown
|
7 |
2009 |
7
🐜
|
|
🐜
|
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length.
10 auth.
S. Dejager,
H. Bry-Gauillard,
Éric Bruckert,
B. Eymard,
F. Salachas,
E. Leguern,
...
S. Tardieu,
R. Chadarevian,
Philippe Giral,
G. Turpin
|
7 |
2002 |
7
🐜
|
