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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
52 auth.
D. Pellerin,
M. Danzi,
C. Wilke,
M. Renaud,
S. Fazal,
M. Dicaire,
C. Scriba,
C. Ashton,
C. Yanick,
Danique Beijer,
A. Rebelo,
C. Rocca,
Z. Jaunmuktane,
J. Sonnen,
R. Larivière,
...
D. Genís,
Laura Molina Porcel,
K. Choquet,
R. Sakalla,
S. Provost,
R. Robertson,
X. Allard-Chamard,
M. Tetreault,
Sarah J. Reiling,
S. Nagy,
V. Nishadham,
M. Purushottam,
S. Vengalil,
Mainak Bardhan,
A. Nalini,
Zhongbo Chen,
J. Mathieu,
R. Massie,
Colin H. Chalk,
A. Lafontaine,
F. Evoy,
M. Rioux,
J. Ragoussis,
K. Boycott,
M. Dube,
A. Duquette,
H. Houlden,
G. Ravenscroft,
N. Laing,
P. Lamont,
M. Saporta,
R. Schüle,
L. Schöls,
R. La Piana,
M. Synofzik,
S. Zuchner,
B. Brais
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6 |
2022 |
6 🐜
|
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Dynamic changes of CB1‐receptor expression in hippocampi of epileptic mice and humans
13 auth.
Z. Maglóczky,
K. Tóth,
Rita Karlócai,
S. Nagy,
L. Erőss,
S. Czirják,
J. Vajda,
G. Rásonyi,
A. Kelemen,
V. Juhos,
...
P. Halász,
K. Mackie,
T. Freund
|
6 |
2010 |
6 🐜
|
🐜
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Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
22 auth.
D. Pellerin,
C. Wilke,
Andreas Traschütz,
S. Nagy,
R. Currò,
M. Dicaire,
H. Garcia-Moreno,
M. Anheim,
T. Wirth,
J. Faber,
...
D. Timmann,
C. Depienne,
D. Rujescu,
J. Gazulla,
M. Reilly,
P. Giunti,
B. Brais,
H. Houlden,
L. Schöls,
M. Strupp,
A. Cortese,
M. Synofzik
|
4 |
2023 |
4 🐜
|
🐜
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Dynamic changes of CB 1 receptor expression in hippocampi of epileptic mice and humans
12 auth.
Z. Maglóczky,
K. Tóth,
Rita Karlócai,
S. Nagy,
S. Czirják,
J. Vajda,
...
G. Rásonyi,
A. Kelemen,
V. Juhos,
P. Halász,
K. Mackie,
T. Freund
|
3 |
2011 |
3 🐜
|
🐜
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Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS)
10 auth.
M. Kekenadze,
C. Rocca,
V. Turchetti,
S. Nagy,
N. Kvirkvelia,
S. Vashadze,
...
Eka Kvaratskhelia,
M. Beridze,
R. Kaiyrzhanov,
H. Houlden
|
0 |
2023 |
0 🐜
|
🐜
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RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
32 auth.
R. Maroofian,
P. Sarraf,
Thomas J O'Brien,
Mona Kamel,
A. Çakar,
N. Elkhateeb,
Tracy Lau,
S. Patil,
Christopher J Record,
A. Horga,
Miriam Essid,
Laila Selim,
Hanene Benrhouma,
T. Ben Younes,
Giovanni Zifarelli,
...
A. Pagnamenta,
P. Bauer,
M. Khundadze,
Andrea Mirecki,
Sara Mahmoud Kamel,
M. Elmonem,
Ehsan Ghayoor Karimiani,
Y. Jamshidi,
A. Offiah,
A. Rossor,
I. Youssef‐Turki,
Christian A. Hübner,
Pinki Munot,
Mary M Reilly,
André E. X. Brown,
S. Nagy,
H. Houlden
|
0 |
2024 |
0 🐜
|
🦁
|
Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies
13 auth.
S. Nagy,
A. Carr,
Magdalena Mroczek,
Simon Rinaldi,
R. Currò,
Natalia Dominik,
Nicole Japzon,
F. Magrinelli,
Michael P Lunn,
H. Manji,
...
Mary M Reilly,
Andrea Cortese,
H. Houlden
|
0 |
2024 |
0 🦁
|