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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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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
68 auth.
K. Williams,
S. Topp,
Shu Yang,
Bradley N. Smith,
J. Fifita,
S. Warraich,
Katharine Y. Zhang,
N. Farrawell,
C. Vance,
Xun Hu,
A. Chesi,
C. Leblond,
Albert Lee,
S. Rayner,
V. Sundaramoorthy,
...
C. Dobson-Stone,
M. Molloy,
M. van Blitterswijk,
D. Dickson,
R. Petersen,
N. Graff-Radford,
B. Boeve,
M. Murray,
Cyril Pottier,
E. Don,
C. Winnick,
E. McCann,
A. Hogan,
H. Daoud,
A. Levert,
P. Dion,
J. Mitsui,
H. Ishiura,
Yuji Takahashi,
J. Goto,
J. Kost,
C. Gellera,
A. Gkazi,
Jack W. Miller,
Joanne Stockton,
W. Brooks,
K. Boundy,
M. Polak,
J. Muñoz-Blanco,
J. Esteban-Pérez,
A. Rábano,
O. Hardiman,
K. Morrison,
N. Ticozzi,
V. Silani,
J. de Belleroche,
J. Glass,
J. Kwok,
G. Guillemin,
R. Chung,
S. Tsuji,
Robert H. Brown,
A. García-Redondo,
R. Rademakers,
J. Landers,
A. Gitler,
G. Rouleau,
N. Cole,
J. Yerbury,
J. Atkin,
C. Shaw,
G. Nicholson,
I. Blair
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7 |
2016 |
7
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Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
13 auth.
E. McCann,
L. Henden,
J. Fifita,
Katharine Y. Zhang,
N. Grima,
Denis C. Bauer,
Sandrine Chan Moi Fat,
Natalie A. Twine,
R. Pamphlett,
M. Kiernan,
...
D. Rowe,
K. Williams,
I. Blair
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6 |
2020 |
6
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Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration.
Katharine Y. Zhang,
Shu Yang,
S. Warraich,
I. Blair
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5 |
2014 |
5
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Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43.
19 auth.
Diane Moujalled,
J. James,
Shu Yang,
Katharine Y. Zhang,
Clare Duncan,
D. Moujalled,
Sarah J. Parker,
Aphrodite Caragounis,
Grace E. Lidgerwood,
B. J. Turner,
...
J. Atkin,
Alexandra Grubman,
J. R. Liddell,
Christian Proepper,
T. Boeckers,
K. Kanninen,
I. Blair,
P. Crouch,
Anthony R. White
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5 |
2015 |
5
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Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression
14 auth.
I. Tarr,
E. McCann,
Beben Benyamin,
Timothy J. Peters,
Natalie A. Twine,
Katharine Y. Zhang,
Qiongyi Zhao,
Zong-Hong Zhang,
D. Rowe,
G. Nicholson,
...
Denis C. Bauer,
S. Clark,
I. Blair,
K. Williams
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5 |
2019 |
5
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Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin
10 auth.
K. Williams,
E. McCann,
J. Fifita,
Katharine Y. Zhang,
E. Duncan,
P. Leo,
...
M. Marshall,
D. Rowe,
G. Nicholson,
I. Blair
|
5 |
2015 |
5
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Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features
9 auth.
Shu Yang,
Katharine Y. Zhang,
Ruvini Kariawasam,
M. Bax,
J. Fifita,
L. Ooi,
...
J. Yerbury,
G. Nicholson,
I. Blair
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5 |
2015 |
5
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Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis
14 auth.
J. Fifita,
Katharine Y. Zhang,
J. Galper,
K. Williams,
E. McCann,
A. Hogan,
Neil Saunders,
Denis C. Bauer,
I. Tarr,
R. Pamphlett,
...
G. Nicholson,
D. Rowe,
Shu Yang,
I. Blair
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4 |
2017 |
4
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🐜
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Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex
20 auth.
Albert Lee,
S. Rayner,
Alana De Luca,
S. Gwee,
M. Morsch,
V. Sundaramoorthy,
Hamideh Shahheydari,
A. Ragagnin,
B. Shi,
Shu Yang,
...
K. Williams,
E. Don,
A. Walker,
Katharine Y. Zhang,
J. Yerbury,
N. Cole,
J. Atkin,
I. Blair,
M. Molloy,
R. Chung
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4 |
2017 |
4
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