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1 . Academic Journal
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
저자
by
Ouyang, Riwei
;
Wan, Linlin
;
Pellerin, David
;
Long, Zhe
;
Hu, Jian
, et al.
소스
In
eBioMedicine
April 2024 102
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7 . Academic Journal
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
저자
by
Pellerin, David
;
Heindl, Felix
;
Wilke, Carlo
;
Danzi, Matt C.
;
Traschütz, Andreas
, et al.
소스
In
eBioMedicine
April 2024 102
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7 . Academic Journal
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients
저자
by
Novis, Luiz Eduardo
;
Alavi, Shahryar
;
Pellerin, David
;
Della Coleta, Marcus Vinicius
;
Raskin, Salmo
, et al.
소스
In
Parkinsonism and Related Disorders
February 2024 119
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7 . Academic Journal
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
저자
by
Méreaux, Jean-Loup
;
Davoine, Claire-Sophie
;
Pellerin, David
;
Coarelli, Giulia
;
Coutelier, Marie
, et al.
소스
In
eBioMedicine
January 2024 99
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7 . Academic Journal
Quand une ataxie à expansion peut en cacher une autre : à propos de 3 cas avec ataxie cérébelleuse tardive portant des expansions pathologiques dans RFC1 (CANVAS) et FGF14 (SCA27B)
저자
by
Hocquel, Armand
;
Méreaux, Jean-Loup
;
Bonnet, Céline
;
Huin, Vincent
;
Hadjivassiliou, Mario
, et al.
소스
In
Revue Neurologique
April 2024 180 Supplement:S72-S72
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7 . Academic Journal
Stratégie de diagnostic moléculaire de l’ataxie tardive SCA27B : mise en évidence de 140 porteurs d’expansions introniques FGF14 (GAA) ≥ 250 dans une cohorte française
저자
by
Bonnet, Céline
;
Roth, Virginie
;
Wandzel, Marion
;
Pellerin, David
;
Clément, Guillemette
, et al.
소스
In
Revue Neurologique
April 2024 180 Supplement:S71-S71
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7 . Academic Journal
SCA27B/FGF14 : une ataxie peut en cacher une autre
저자
by
Méreaux, Jean-Loup
;
Davoine, Claire-Sophie
;
Pellerin, David
;
Coarelli, Giulia
;
Renaud, Mathilde
, et al.
소스
In
Revue Neurologique
April 2024 180 Supplement:S69-S69
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7 . Academic Journal
Troubles oculomoteurs observés dans l’ataxie cérébelleuse SCA27B (GAA-FGF14 ataxia) : une série de 5 cas
저자
by
Clément, Guillemette
;
Puisieux, Salomé
;
Ashton, Catherine
;
Pellerin, David
;
Bonnet, Céline
, et al.
소스
In
Revue Neurologique
April 2024 180 Supplement:S37-S38
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7 . Academic Journal
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
저자
by
Wirth, Thomas
;
Bonnet, Céline
;
Delvallée, Clarisse
;
Pellerin, David
;
Bogdan, Thomas
, et al.
소스
Journal of Neurology
. Apr2024, Vol. 271 Issue 4, p2078-2085. 8p.
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7 . Academic Journal
The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
저자
by
Kartanou, Chrisoula
;
Mitrousias, Alexandros
;
Pellerin, David
;
Kontogeorgiou, Zoi
;
Iruzubieta, Pablo
, et al.
소스
Clinical Genetics
. Apr2024, Vol. 105 Issue 4, p446-452. 7p.
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