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Frontiers in Neurology
|
November 17, 2025
Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review
Justin Simo, Heather M Lugar, Elka Miller, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 11, 2023
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family"
David Pellerin, Pablo Iruzubieta, Şeyma Tekgül, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
December 9, 2024
Oculomotor Findings in Spinocerebellar Ataxia 27B: A Case Series
Guillemette Clément, Salomé Puisieux, Catherine Ashton, et al.
Ebiomedicine
|
March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
David 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 response
David Pellerin, Felix Heindl, Carlo Wilke, et al.
Canadian Respiratory Journal
|
October 13, 2012
Position paper by Canadian dental sleep medicine professionals on the role of different health care professionals in managing obstructive sleep apnea and snoring with oral appliances
Luc Gauthier, Fernanda Almeida, Jean-Patrick Arcache, et al.
Biorxiv : the Preprint Server for Biology
|
July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus
David Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Journal of Neurology
|
September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort
Pablo Iruzubieta, David Pellerin, Catherine Ashton, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 26, 2024
Neuroradiological findings in GAA-<i>FGF14</i> ataxia (SCA27B): more than cerebellar atrophy
Shihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Neurology. Genetics
|
February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-<i>FGF14</i> Ataxia
Shihan Chen, Catherine Ashton, Rawan Sakalla, et al.
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Search research articles
Search
Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
Frontiers in Neurology
|
November 17, 2025
Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review
Justin Simo, Heather M Lugar, Elka Miller, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 11, 2023
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family"
David Pellerin, Pablo Iruzubieta, Şeyma Tekgül, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
December 9, 2024
Oculomotor Findings in Spinocerebellar Ataxia 27B: A Case Series
Guillemette Clément, Salomé Puisieux, Catherine Ashton, et al.
Ebiomedicine
|
March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
David 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 response
David Pellerin, Felix Heindl, Carlo Wilke, et al.
Canadian Respiratory Journal
|
October 13, 2012
Position paper by Canadian dental sleep medicine professionals on the role of different health care professionals in managing obstructive sleep apnea and snoring with oral appliances
Luc Gauthier, Fernanda Almeida, Jean-Patrick Arcache, et al.
Biorxiv : the Preprint Server for Biology
|
July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus
David Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Journal of Neurology
|
September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort
Pablo Iruzubieta, David Pellerin, Catherine Ashton, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 26, 2024
Neuroradiological findings in GAA-<i>FGF14</i> ataxia (SCA27B): more than cerebellar atrophy
Shihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Neurology. Genetics
|
February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-<i>FGF14</i> Ataxia
Shihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Page
of 3