|
🐜
|
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
57 auth.
Bradley N. Smith,
S. Topp,
C. Fallini,
H. Shibata,
Han-Jou Chen,
C. Troakes,
A. King,
N. Ticozzi,
K. Kenna,
Athina Soragia-Gkazi,
Jack W. Miller,
Akane Sato,
Diana Marques Dias,
M. Jeon,
C. Vance,
...
C. Wong,
M. Majo,
Wejdan Kattuah,
Jacqueline C Mitchell,
Emma L. Scotter,
Nicholas W Parkin,
P. Sapp,
M. Nolan,
P. Nestor,
M. Simpson,
M. Weale,
M. Lek,
M. Lek,
F. Baas,
J. D. Jong,
A. T. Asbroek,
Alberto G Redondo,
J. Esteban-Pérez,
C. Tiloca,
F. Verde,
S. Duga,
N. Leigh,
H. Pall,
K. Morrison,
A. Al-Chalabi,
P. Shaw,
J. Kirby,
M. Turner,
K. Talbot,
O. Hardiman,
J. Glass,
J. Belleroche,
M. Maki,
S. Moss,
Christopher C. J. Miller,
C. Gellera,
A. Ratti,
S. Al-Sarraj,
Robert H. Brown,
V. Silani,
J. Landers,
C. Shaw
|
7 |
2017 |
7
🐜
|
|
🐜
|
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
18 auth.
Bradley N. Smith,
C. Vance,
Emma L. Scotter,
C. Troakes,
C. Wong,
S. Topp,
S. Maekawa,
A. King,
Jacqueline C Mitchell,
Karan Lund,
...
A. Al-Chalabi,
N. Ticozzi,
V. Silani,
P. Sapp,
Robert H. Brown,
J. Landers,
S. Al-Sarraj,
C. Shaw
|
6 |
2015 |
6
🐜
|
|
🐜
|
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development
21 auth.
Swapna Thomas-Jinu,
Patricia M. Gordon,
Triona Fielding,
Richard Taylor,
Bradley N. Smith,
Victoria Snowden,
E. Blanc,
C. Vance,
S. Topp,
C. Wong,
...
H. Bielen,
K. Williams,
E. McCann,
G. Nicholson,
Alejandro Pan-Vazquez,
A. Fox,
C. Bond,
W. S. Talbot,
I. Blair,
C. Shaw,
C. Houart
|
6 |
2017 |
6
🐜
|
|
🐜
|
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
33 auth.
Martina de Majo,
S. Topp,
Bradley N. Smith,
A. Nishimura,
Han-Jou Chen,
A. Gkazi,
Jack W. Miller,
C. Wong,
C. Vance,
F. Baas,
A. T. Ten Asbroek,
K. Kenna,
N. Ticozzi,
Alberto G Redondo,
J. Esteban-Pérez,
...
C. Tiloca,
F. Verde,
S. Duga,
K. Morrison,
P. Shaw,
J. Kirby,
M. Turner,
K. Talbot,
O. Hardiman,
J. Glass,
J. de Belleroche,
C. Gellera,
A. Ratti,
A. Al-Chalabi,
Robert H. Brown,
V. Silani,
J. Landers,
C. Shaw
|
6 |
2018 |
6
🐜
|
|
🦁
|
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
15 auth.
C. Wong,
S. Topp,
A. Gkazi,
C. Troakes,
Jack W. Miller,
M. Majo,
J. Kirby,
P. Shaw,
K. Morrison,
J. Belleroche,
...
C. Vance,
A. Al-Chalabi,
S. Al-Sarraj,
C. Shaw,
Bradley N. Smith
|
4 |
2015 |
4
🦁
|
|
🐜
|
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue
16 auth.
Emma L. Scotter,
Leon C. D. Smyth,
J. Bailey,
C. Wong,
M. Majo,
C. Vance,
B. Synek,
C. Turner,
Jennifer A Pereira,
A. Charleston,
...
H. Waldvogel,
M. Curtis,
M. Dragunow,
C. Shaw,
Bradley N. Smith,
R. Faull
|
4 |
2017 |
4
🐜
|
|
🐜
|
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
17 auth.
M. Gotkine,
M. Majo,
C. Wong,
S. Topp,
R. Michaelson-Cohen,
S. Epsztejn-Litman,
R. Eiges,
Y. YossefLerner,
M. Kanaan,
Hagar Mor Shaked,
...
Nada F. Alahmady,
C. Vance,
S. Newhouse,
G. Breen,
A. Nishimura,
C. Shaw,
Bradley N. Smith
|
2 |
2021 |
2
🐜
|
|
🐜
|
and are genetic causes of ALS in New Zealand: A genetic and pathological study using banked human brain tissue
16 auth.
E. Scotter,
L. Smyth,
J. Bailey,
C. Wong,
M. Majo,
C. Vance,
B. Synek,
C. Turner,
J. Pereira,
A. Charleston,
...
HJ Waldvogel,
MA Curtis,
M. Dragunow,
CE Shaw,
BN Smith,
R. Faull
|
1 |
2016 |
1
🐜
|
