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European Journal of Neurology
|
August 14, 2023
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
Pablo Iruzubieta, David Pellerin, Alberto Bergareche, 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.
Scientific Reports
|
June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Céline Bonnet, David Pellerin, Virginie Roth, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 24, 2025
A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease
Xiaosheng Zheng, Zhidong Cen, Xinhui Chen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathy
Liedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Cerebellum (London, England)
|
December 22, 2025
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia
M Leonor Bustamante, Marcelo Miranda, David Pellerin, et al.
Annals of Neurology
|
September 12, 2024
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)
Widad Abou Chaar, Anirudh N Eranki, Hannah A Stevens, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 15, 2024
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
David Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Brain : a Journal of Neurology
|
October 8, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
David Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
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Search research articles
Search
Showing results (41-50 of 55) with videos related to
Sort By:
Page
of 6
European Journal of Neurology
|
August 14, 2023
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
Pablo Iruzubieta, David Pellerin, Alberto Bergareche, 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.
Scientific Reports
|
June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Céline Bonnet, David Pellerin, Virginie Roth, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 24, 2025
A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease
Xiaosheng Zheng, Zhidong Cen, Xinhui Chen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathy
Liedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Cerebellum (London, England)
|
December 22, 2025
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia
M Leonor Bustamante, Marcelo Miranda, David Pellerin, et al.
Annals of Neurology
|
September 12, 2024
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)
Widad Abou Chaar, Anirudh N Eranki, Hannah A Stevens, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 15, 2024
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
David Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Brain : a Journal of Neurology
|
October 8, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
David Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
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of 6