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1 . Academic Journal
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context
저자
by
David Pellerin
;
Felix Heindl
;
Carlo Wilke
;
Matt C. Danzi
;
Andreas Traschütz
, et al.
소스
EBioMedicine, Vol 102, Iss , Pp 105076- (2024)
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7 . Academic Journal
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
저자
by
Céline Bonnet
;
David Pellerin
;
Virginie Roth
;
Guillemette Clément
;
Marion Wandzel
, et al.
소스
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
The J Domain of Sacsin Disrupts Intermediate Filament Assembly
저자
by
Afrooz Dabbaghizadeh
;
Alexandre Paré
;
Zacharie Cheng-Boivin
;
Robin Dagher
;
Sandra Minotti
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15742 (2022)
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7 . Academic Journal
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis
저자
by
Karine Choquet
;
Maxime Pinard
;
Sharon Yang
;
Robyn D. Moir
;
Christian Poitras
, et al.
소스
Molecular Brain, Vol 12, Iss 1, Pp 1-10 (2019)
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7 . Academic Journal
Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations
저자
by
Fulya Akçimen
;
Jay P. Ross
;
Cynthia V. Bourassa
;
Calwing Liao
;
Daniel Rochefort
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
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7 . Academic Journal
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
저자
by
Karine Choquet
;
Sharon Yang
;
Robyn D. Moir
;
Diane Forget
;
Roxanne Larivière
, et al.
소스
Molecular Brain, Vol 10, Iss 1, Pp 1-13 (2017)
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7 . Academic Journal
The dynamism of PABPN1 nuclear inclusions during the cell cycle
저자
by
A. Marie-Josée Sasseville
;
Antoine W. Caron
;
Lucie Bourget
;
Arnaud F. Klein
;
Marie-Josée Dicaire
, et al.
소스
Neurobiology of Disease, Vol 23, Iss 3, Pp 621-629 (2006)
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7 . Academic Journal
PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions
저자
by
Louis-Philippe Corbeil-Girard
;
Arnaud F. Klein
;
A. Marie-Josée Sasseville
;
Hugo Lavoie
;
Marie-Josée Dicaire
, et al.
소스
Neurobiology of Disease, Vol 18, Iss 3, Pp 551-567 (2005)
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7 . Academic Journal
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
저자
by
Vafa Bayat
;
Isabelle Thiffault
;
Manish Jaiswal
;
Martine Tétreault
;
Taraka Donti
, et al.
소스
PLoS Biology, Vol 10, Iss 3, p e1001288 (2012)
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7 .
A common flanking variant is associated with enhanced meiotic stability of theFGF14-SCA27B locus
저자
by
David Pellerin
;
Giulia Del Gobbo
;
Madeline Couse
;
Egor Dolzhenko
;
Marie-Josée Dicaire
, et al.
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