E-LIB Suche - Ergebnisse für: Dicaire, M.J.

1

Frequency of GAA-FGF14 ataxia in a large cohort of Brazilia..:

Novis, L.E. ; Frezatti, R. ; Pellerin, D....
Parkinsonism & Related Disorders. 122 (2024) - p. 106157 , 2024

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

2

Intronic GAA-FGF14 Expansion in an italian patient presenti..:

Mitrotti, P. ; Avenali, M. ; Vegezzi, E....
Parkinsonism & Related Disorders. 122 (2024) - p. 106782 , 2024

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

3

GR.2 A deep intronic FGF14 GAA repeat expansion causes late..:

Pellerin, D ; Danzi, MC ; Wilke, C...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 50 (2023) s2 - p. S46-S46 , 2023

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

4

FP.32 BAG3 p.P209L variant leads to changes in nuclear and ..:

Robertson, R. ; Dicaire, M. ; Lavoie, J..
Neuromuscular Disorders. 32 (2022) - p. S107 , 2022

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

5

A.3 A novel recessive TNNT1 congenital core-rod myopathy in..:

Pellerin, D ; Aykanat, A ; Ellezam, B...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 49 (2022) s1 - p. S3-S3 , 2022

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

6

A.4 A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in..:

Pellerin, D ; Aykanat, A ; Ellezam, B...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48 (2021) s3 - p. S14-S15 , 2021

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

7

OTHER NMDs:

Robertson, R. ; Dicaire, M. ; Chabaytah, N...
Neuromuscular Disorders. 31 (2021) - p. S158-S159 , 2021

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

8

Mouse model of BAG3 myofibrillar myopathy:

Robertson, R. ; Conte, T. ; Dicaire, M....
Neuromuscular Disorders. 27 (2017) - p. S121 , 2017

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

9

A missense mutation in the putative sarcoplasmic reticulum ..:

Brais, B. ; Conte, T. ; Dicaire, M....
Neuromuscular Disorders. 26 (2016) - p. S95 , 2016

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

10

G.P.197:

Conte, T.C. ; Tetreault, M. ; Dicaire, M.J....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 875-876 , 2014

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

11

Diversity of ARSACS Mutations in French-Canadians:

Thiffault, I. ; Dicaire, M.J. ; Tetreault, M....
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 40 (2013) 1 - p. 61-66 , 2013

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

12

Structural studies of sacsin:

Kozlov, G. ; Denisov, A. Y. ; Trempe, J. -F....
Acta Crystallographica Section A Foundations of Crystallography. 68 (2012) a1 - p. s163-s163 , 2012

Link: https://doi.org/10.1107/..

13

A novel founderSCN4Amutation causes painful cold-induced my..:

Rossignol, E. ; Mathieu, J. ; Thiffault, I....
Neurology. 69 (2007) 20 - p. 1937-1941 , 2007

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

14

G.P.9 02 Long expansion and deletion of the polyalanine dom..:

Klein, A.F. ; Ebihara, M. ; Dicaire, M.J....
Neuromuscular Disorders. 16 (2006) 9-10 - p. 711 , 2006

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

15

Two mutations in theHSN2gene explain the high prevalence of..:

Roddier, K. ; Thomas, T. ; Marleau, G....
Neurology. 64 (2005) 10 - p. 1762-1767 , 2005

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