🐜
|
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
37 auth.
M. Anheim,
B. Monga,
B. Monga,
M. Fleury,
P. Charles,
C. Barbot,
M. Salih,
J. Delaunoy,
M. Fritsch,
L. Arning,
M. Synofzik,
L. Schöls,
J. Sequeiros,
C. Goizet,
C. Marelli,
...
I. Ber,
J. Koht,
J. Koht,
J. Gazulla,
J. D. Bleecker,
M. Mukhtar,
N. Drouot,
Lamia Alipacha,
T. Benhassine,
M. Chbicheb,
A. M'zahem,
A. Hamri,
B. Chabrol,
J. Pouget,
R. A. Murphy,
M. Watanabe,
Paula Coutinho,
M. Tazir,
A. Durr,
A. Brice,
C. Tranchant,
M. Koenig
|
7 |
2009 |
7 🐜
|
🐜
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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
32 auth.
Andreas Traschütz,
A. Cortese,
S. Reich,
Natalia Dominik,
J. Faber,
H. Jacobi,
A. Hartmann,
D. Rujescu,
S. Montaut,
A. Echaniz-Laguna,
Sevda Erer,
Valerie Schütz,
A. Tarnutzer,
M. Sturm,
T. Haack,
...
Nadège Vaucamps-Diedhiou,
H. Puccio,
L. Schöls,
T. Klockgether,
B. P. van de Warrenburg,
M. Paucar,
D. Timmann,
R. Hilgers,
J. Gazulla,
M. Strupp,
G. Morís,
A. Filla,
H. Houlden,
M. Anheim,
J. Infante,
A. Başak,
M. Synofzik
|
6 |
2021 |
6 🐜
|
🐜
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Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review
10 auth.
J. Berciano,
Antonio G. García,
E. Gallardo,
K. Peeters,
A. Pelayo-Negro,
S. Álvarez-Paradelo,
...
J. Gazulla,
Miriam Martínez-Tames,
J. Infante,
A. Jordanova
|
6 |
2017 |
6 🐜
|
🦁
|
New findings in the ataxia of Charlevoix–Saguenay
12 auth.
J. Gazulla,
I. Benavente,
A. Vela,
M. Marín,
L. Pablo,
A. Tessa,
...
M. R. Barrena,
F. Santorelli,
C. Nesti,
P. Modrego,
M. Tintoré,
J. Berciano
|
5 |
2012 |
5 🦁
|
🐜
|
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres
7 auth.
J. Infante,
Antonio G. García,
Karla M. Serrano-Cárdenas,
Rocío González-Aguado,
J. Gazulla,
E. M. Lucas,
...
J. Berciano
|
5 |
2018 |
5 🐜
|
🐜
|
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 🐜
|
🦁
|
Is the ataxia of Charlevoix-Saguenay a developmental disease?
9 auth.
J. Gazulla,
A. Vela,
M. Marín,
L. Pablo,
F. Santorelli,
I. Benavente,
...
P. Modrego,
M. Tintoré,
J. Berciano
|
4 |
2011 |
4 🦁
|
🐬
|
Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?
E. Garcia-Martin,
L. Pablo,
J. Gazulla,
V. Polo,
A. Ferreras,
J. M. Larrosa
|
4 |
2012 |
4 🐬
|
🦁
|
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.
J. Gazulla,
M. Tintoré
|
4 |
2007 |
4 🦁
|