E-LIB Suche - Ergebnisse für: Dicaire, Marie-Josée

1

A common flanking variant is associated with enhanced stabi..:

Pellerin, David ; Del Gobbo, Giulia F. ; Couse, Madeline...
Nature Genetics. 56 (2024) 7 - p. 1366-1370 , 2024

Link: https://doi.org/10.1038/..

2

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/..

3

Spinocerebellar ataxia 27B: a frequent and slowly progressi..:

Satolli, Sara ; Rossi, Salvatore ; Vegezzi, Elisa...
Journal of Neurology. , 2024

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

4

IntronicFGF14GAA repeat expansions are a common cause of at..:

Pellerin, David ; Wilke, Carlo ; Traschütz, Andreas...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 175-179 , 2023

Link: https://doi.org/10.1136/..

5

Spinocerebellar ataxia 27B: episodic symptoms and acetazola..:

Ashton, Catherine ; Indelicato, Elisabetta ; Pellerin, David...
Brain Communications. 5 (2023) 5 - p. , 2023

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

6

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural hist..:

Wilke, Carlo ; Pellerin, David ; Mengel, David...
Brain. 146 (2023) 10 - p. 4144-4157 , 2023

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

7

A deep intronic FGF14 GAA repeat expansion causes late-onse..:

Pellerin, David ; Danzi, Matt ; Wilke, Carlo...
Journal of the Neurological Sciences. 455 (2023) - p. 121139 , 2023

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

8

Intronic FGF14 GAA repeat expansions are a common cause of ..:

Pellerin, David ; Wilke, Carlo ; Traschütz, Andreas...
Journal of the Neurological Sciences. 455 (2023) - p. 121185 , 2023

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

9

GAA-FGF14 ataxia: Exploring the clinical phenotype in a lar..:

Ashton, Catherine ; Pellerin, David ; La Piana, Roberta...
Journal of the Neurological Sciences. 455 (2023) - p. 121140 , 2023

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

10

Optimized testing strategy for the diagnosis of GAA-FGF14 a..:

Bonnet, Céline ; Pellerin, David ; Roth, Virginie...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

11

The J Domain of Sacsin Disrupts Intermediate Filament Assem..:

Dabbaghizadeh, Afrooz ; Paré, Alexandre ; Cheng-Boivin, Zacharie...
International Journal of Molecular Sciences. 23 (2022) 24 - p. 15742 , 2022

Link: https://doi.org/10.3390/..

12

A Novel Late-onset Dominant Episodic Ataxia in a Large Fren..:

Pellerin, David ; Renaud, Mathilde ; Choquet, Karine...
Neurology. 94 (2020) 15_supplement - p. , 2020

Link: https://doi.org/10.1212/..

13

Multisystem Proteinopathy Associated with a VCP G156S Mutat..:

Pellerin, David ; Ellezam, Benjamin ; Korathanakhun, Pat...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 47 (2020) 3 - p. 412-415 , 2020

Link: https://doi.org/10.1017/..

14

Neurological Involvement in Glycogen Storage Disease Type I..:

Smith, Chelsea ; Dicaire, Marie-Josée ; Brais, Bernard..
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 47 (2020) 3 - p. 400-403 , 2020

Link: https://doi.org/10.1017/..

15

Investigation of the RFC1 Repeat Expansion in a Canadian an..:

Akçimen, Fulya ; Ross, Jay P. ; Bourassa, Cynthia V....
Frontiers in Genetics. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..