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David Pellerin

Showing results (21-30 of 55) with videos related to

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Brain Communications|June 9, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxiaWai Yan Yau, Roisin Sullivan, Emer O'Connor, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Clinical Genetics|January 15, 2024
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsChrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicityMatt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Journal of Neurology|January 24, 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?Thomas Wirth, Céline Bonnet, Clarisse Delvallée, et al.
The Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Annals of Neurology|January 24, 2020
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French CanadiansDavid Pellerin, Asli Aykanat, Benjamin Ellezam, et al.
Ebiomedicine|March 21, 2024
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyRiwei Ouyang, Linlin Wan, David Pellerin, et al.
Pageof 6

Showing results (21-30 of 55) with videos related to

Sort By:
Pageof 6
Brain Communications|June 9, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxiaWai Yan Yau, Roisin Sullivan, Emer O'Connor, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Clinical Genetics|January 15, 2024
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsChrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicityMatt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Journal of Neurology|January 24, 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?Thomas Wirth, Céline Bonnet, Clarisse Delvallée, et al.
The Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Annals of Neurology|January 24, 2020
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French CanadiansDavid Pellerin, Asli Aykanat, Benjamin Ellezam, et al.
Ebiomedicine|March 21, 2024
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyRiwei Ouyang, Linlin Wan, David Pellerin, et al.
Pageof 6