E-LIB Suche - Ergebnisse für: Brais, Bernard

1

RFC1 repeat expansions in downbeat nystagmus syndromes: fre..:

Pellerin, David ; Heindl, Felix ; Traschütz, Andreas...
Journal of Neurology. 271 (2024) 5 - p. 2886-2892 , 2024

Link: https://doi.org/10.1007/..

2

Does Spinocerebellar ataxia 27B mimic cerebellar multiple s..:

Wirth, Thomas ; Bonnet, Céline ; Delvallée, Clarisse...
Journal of Neurology. 271 (2024) 4 - p. 2078-2085 , 2024

Link: https://doi.org/10.1007/..

3

Spinocerebellar ataxia 27B: A novel, frequent and potential..:

Pellerin, David ; Danzi, Matt C. ; Renaud, Mathilde...
Clinical and Translational Medicine. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1002/..

4

Stratégie de diagnostic moléculaire de l'ataxie tardive SCA..:

Bonnet, Céline ; Roth, Virginie ; Wandzel, Marion...
Revue Neurologique. 180 (2024) - p. S71 , 2024

Link: https://doi.org/10.1016/..

5

An MRI evaluation of white matter involvement in paradigmat..:

Scaravilli, Alessandra ; Gabusi, Ilaria ; Mari, Gaia...
Journal of Neurology. 271 (2024) 8 - p. 5468-5477 , 2024

Link: https://doi.org/10.1007/..

6

Neurological disorders caused by novel non-coding repeat ex..:

Vegezzi, Elisa ; Ishiura, Hiroyuki ; Bragg, D Cristopher...
The Lancet Neurology. 23 (2024) 7 - p. 725-739 , 2024

Link: https://doi.org/10.1016/..

7

GAA-FGF14 disease: defining its frequency, molecular basis,..:

Pellerin, David ; Heindl, Felix ; Wilke, Carlo...
eBioMedicine. 102 (2024) - p. 105076 , 2024

Link: https://doi.org/10.1016/..

8

CHARON: An Imaging-Based Diagnostic Algorithm to Navigate T..:

Scaravilli, Alessandra ; Tranfa, Mario ; Pontillo, Giuseppe...
The Cerebellum. , 2024

Link: https://doi.org/10.1007/..

9

Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repea..:

Pellerin, David ; Seemann, Jens ; Traschütz, Andreas...
Movement Disorders. , 2024

Link: https://doi.org/10.1002/..

10

The genetic landscape and phenotypic spectrum of GAA-FGF14 ..:

Ouyang, Riwei ; Wan, Linlin ; Pellerin, David...
eBioMedicine. 102 (2024) - p. 105077 , 2024

Link: https://doi.org/10.1016/..

11

P652: High-yield diagnostic testing of FGF14 repeat expansi..:

Forrest, Megan ; Delfeld, Megan ; Gary, Alexander...
Genetics in Medicine Open. 2 (2024) - p. 101557 , 2024

Link: https://doi.org/10.1016/..

12

Role of the repeat expansion size in predicting age of onse..:

Currò, Riccardo ; Dominik, Natalia ; Facchini, Stefano...
Brain. 147 (2024) 5 - p. 1887-1898 , 2024

Link: https://doi.org/10.1093/..

13

The FGF14GAA repeat expansion in Greek patients with late‐o..:

Kartanou, Chrisoula ; Mitrousias, Alexandros ; Pellerin, David...
Clinical Genetics. 105 (2024) 4 - p. 446-452 , 2024

Link: https://doi.org/10.1111/..

14

The person-reported ataxia impact scale: A new prom in rece..:

Tremblay, Marjolaine ; Brais, Bernard ; Asselin, Véronique...
Journal of the Neurological Sciences. 455 (2023) - p. 121176 , 2023

Link: https://doi.org/10.1016/..

15

Demographics and Clinical Characteristics of Autosomal Domi..:

Alshimemeri, Sohaila ; Abo Alsamh, Danah ; Zhou, Lily...
Movement Disorders Clinical Practice. 10 (2023) 3 - p. 440-451 , 2023

Link: https://doi.org/10.1002/..