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🦁
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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
19 auth.
Yingzhang Chen,
C. Bennett,
H. M. Huynh,
I. Blair,
I. Puls,
J. Irobi,
I. Dierick,
A. Abel,
M. Kennerson,
B. A. Rabin,
...
G. Nicholson,
M. Auer-Grumbach,
K. Wagner,
P. de Jonghe,
J. Griffin,
K. Fischbeck,
V. Timmerman,
D. Cornblath,
P. Chance
|
9 |
2004 |
9
🦁
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|
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Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia
25 auth.
Yingzhang Chen,
J. Friedman,
Dong-Hui Chen,
G. Chan,
C. Bloss,
F. Hisama,
Sarah E. Topol,
Andrew R. Carson,
Phillip H. Pham,
Emily S. Bonkowski,
Erick R. Scott,
Janel K. Lee,
Guangfa Zhang,
G. Oliveira,
Jian Xu,
...
A. A. Scott-Van Zeeland,
Qi Chen,
Samuel Levy,
E. Topol,
D. Storm,
P. Swanson,
T. Bird,
N. Schork,
W. Raskind,
A. Torkamani
|
6 |
2014 |
6
🦁
|
|
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Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
11 auth.
Yingzhang Chen,
M. Matsushita,
P. Robertson,
M. Rieder,
S. Girirajan,
F. Antonacci,
...
H. Lipe,
E. Eichler,
D. Nickerson,
T. Bird,
W. Raskind
|
6 |
2012 |
6
🦁
|
|
🦁
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Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
9 auth.
Yingzhang Chen,
Sayed H. Hashemi,
S. Anderson,
Yongzhao Huang,
M. Moreira,
D. Lynch,
...
I. Glass,
P. Chance,
C. Bennett
|
6 |
2006 |
6
🦁
|
|
🐜
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Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.
9 auth.
Yi-zhi Chen,
Qing-ning Gao,
Xue-zhi Zhao,
Yingzhang Chen,
C. Bennett,
Xi-shan Xiong,
...
C. Mei,
Yong-Quan Shi,
Xiang-mei Chen
|
6 |
2010 |
6
🐜
|
|
🐬
|
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients
C. Bennett,
Yingzhang Chen,
S. Hahn,
I. Glass,
SIDNEY M GOSPE JR
|
6 |
2009 |
6
🐬
|
|
🐜
|
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome
7 auth.
A. Bassuk,
Yingzhang Chen,
S. Batish,
N. Nagan,
P. Opal,
P. Chance,
...
C. Bennett
|
5 |
2006 |
5
🐜
|
|
🐜
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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients
16 auth.
C. Bennett,
S. Dastidar,
Shuo-Chien Ling,
B. Malik,
Travis D. Ashe,
Mandheer Wadhwa,
Derek B. Miller,
C. Lee,
M. B. Mitchell,
M. A. Es,
...
C. Grunseich,
Yingzhang Chen,
B. Sopher,
L. Greensmith,
D. Cleveland,
A. Spada
|
5 |
2018 |
5
🐜
|
|
🦁
|
Evidence for Involvement of GNB1L in Autism
19 auth.
Yingzhang Chen,
M. Matsushita,
S. Girirajan,
Mark Lisowski,
Elizabeth W. Sun,
Youngmee Sul,
R. Bernier,
A. Estes,
G. Dawson,
N. Minshew,
...
Gerard D Shellenberg,
E. Eichler,
M. Rieder,
D. Nickerson,
D. Tsuang,
M. Tsuang,
E. Wijsman,
W. Raskind,
Z. Brkanac
|
4 |
2011 |
4
🦁
|
|
🐜
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Protein Interaction Analysis of Senataxin and the ALS4 L389S Mutant Yields Insights into Senataxin Post-Translational Modification and Uncovers Mutant-Specific Binding with a Brain Cytoplasmic RNA-Encoded Peptide
9 auth.
C. Bennett,
Yingzhang Chen,
M. Vignali,
Russell S. Lo,
A. G. Mason,
A. Unal,
...
Nabiha P. Huq Saifee,
S. Fields,
A. L. La Spada
|
4 |
2013 |
4
🐜
|
