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Movement Disorders : Official Journal of the Movement Disorder Society
|
December 20, 2024
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient
Dilşad Türkdoğan, Natalia Smolina, Şeyma Tekgül, et al.
Brain Communications
|
January 13, 2025
The <i>FGF14</i> GAA repeat expansion is a major cause of ataxia in the Cypriot population
Ioannis Livanos, Christina Votsi, Kyriaki Michailidou, et al.
Journal of Neurology
|
October 9, 2025
Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience
Ikechukwu Chukwuocha, David Pellerin, Priya Shanmugarajah, et al.
Parkinsonism & Related Disorders
|
December 25, 2023
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients
Luiz Eduardo Novis, Shahryar Alavi, David Pellerin, et al.
Journal of Neurology
|
February 21, 2024
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile
David Pellerin, Felix Heindl, Andreas Traschütz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2025
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications
Elisabetta Indelicato, Zofia Fleszar, David Pellerin, et al.
Cerebellum (London, England)
|
July 18, 2025
Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience
Leigh A Rettenmaier, Jin Yun Helen Chen, Jason MacMore, et al.
Journal of Neurology
|
May 24, 2026
Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS
David Pellerin, Felix Heindl, Andreas Traschütz, et al.
Brain : a Journal of Neurology
|
May 11, 2023
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
Carlo Wilke, David Pellerin, David Mengel, et al.
Brain Communications
|
September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
Catherine Ashton, Elisabetta Indelicato, David Pellerin, et al.
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Search research articles
Search
Showing results (11-20 of 55) with videos related to
Sort By:
Page
of 6
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 20, 2024
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient
Dilşad Türkdoğan, Natalia Smolina, Şeyma Tekgül, et al.
Brain Communications
|
January 13, 2025
The <i>FGF14</i> GAA repeat expansion is a major cause of ataxia in the Cypriot population
Ioannis Livanos, Christina Votsi, Kyriaki Michailidou, et al.
Journal of Neurology
|
October 9, 2025
Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience
Ikechukwu Chukwuocha, David Pellerin, Priya Shanmugarajah, et al.
Parkinsonism & Related Disorders
|
December 25, 2023
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients
Luiz Eduardo Novis, Shahryar Alavi, David Pellerin, et al.
Journal of Neurology
|
February 21, 2024
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile
David Pellerin, Felix Heindl, Andreas Traschütz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 29, 2025
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications
Elisabetta Indelicato, Zofia Fleszar, David Pellerin, et al.
Cerebellum (London, England)
|
July 18, 2025
Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience
Leigh A Rettenmaier, Jin Yun Helen Chen, Jason MacMore, et al.
Journal of Neurology
|
May 24, 2026
Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS
David Pellerin, Felix Heindl, Andreas Traschütz, et al.
Brain : a Journal of Neurology
|
May 11, 2023
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
Carlo Wilke, David Pellerin, David Mengel, et al.
Brain Communications
|
September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
Catherine Ashton, Elisabetta Indelicato, David Pellerin, et al.
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of 6