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Brain : a Journal of Neurology
|
July 30, 2014
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
Jérôme Delplanque, David Devos, Vincent Huin, et al.
Orphanet Journal of Rare Diseases
|
March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Brain : a Journal of Neurology
|
April 2, 2008
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment
Sophie Tezenas du Montcel, Perrine Charles, Pascale Ribai, et al.
Orphanet Journal of Rare Diseases
|
December 5, 2021
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, et al.
The Lancet. Neurology
|
January 22, 2022
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 3, 2011
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias
Ellis Chan, Perrine Charles, Pascale Ribai, et al.
Plos One
|
September 23, 2016
COMT Val158Met Polymorphism Modulates Huntington's Disease Progression
Ruth de Diego-Balaguer, Catherine Schramm, Isabelle Rebeix, et al.
Journal of Neurology
|
August 14, 2023
White matter abnormalities in 15 subjects with SPG76
Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, et al.
European Journal of Neurology
|
December 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Manon Degoutin, Chloé Angelini, Claire Bar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.
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Search research articles
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Showing results (101-110 of 173) with videos related to
Sort By:
Page
of 18
Brain : a Journal of Neurology
|
July 30, 2014
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
Jérôme Delplanque, David Devos, Vincent Huin, et al.
Orphanet Journal of Rare Diseases
|
March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Brain : a Journal of Neurology
|
April 2, 2008
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment
Sophie Tezenas du Montcel, Perrine Charles, Pascale Ribai, et al.
Orphanet Journal of Rare Diseases
|
December 5, 2021
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, et al.
The Lancet. Neurology
|
January 22, 2022
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 3, 2011
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias
Ellis Chan, Perrine Charles, Pascale Ribai, et al.
Plos One
|
September 23, 2016
COMT Val158Met Polymorphism Modulates Huntington's Disease Progression
Ruth de Diego-Balaguer, Catherine Schramm, Isabelle Rebeix, et al.
Journal of Neurology
|
August 14, 2023
White matter abnormalities in 15 subjects with SPG76
Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, et al.
European Journal of Neurology
|
December 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Manon Degoutin, Chloé Angelini, Claire Bar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.
Page
of 18