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Matthis Synofzik

Showing results (301-310 of 511) with videos related to

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Journal of Neurology|July 10, 2025
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case seriesArmand Hocquel, David Pellerin, Jean Loup Méreaux, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 25, 2023
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative AtaxiaDemet Oender, Jennifer Faber, Carlo Wilke, et al.
Brain : a Journal of Neurology|January 2, 2026
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrumJohanna R Roller, Ashraf Yahia, Giovanni Stevanin, et al.
Annals of Neurology|August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaKatherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 16, 2021
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral BloodJeannette Hübener-Schmid, Kirsten Kuhlbrodt, Julien Peladan, et al.
Annals of Neurology|May 27, 2023
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia PatientsAndreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 7, 2023
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 PatientsAndreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, et al.
BMC Medicine|March 25, 2026
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disordersMehrdad A Estiar, Eric Yu, Parizad Varghaei, et al.
Journal of Neurology|April 17, 2025
Optimizing selectivity of the Cerebellar Cognitive Affective Syndrome Scale by use of correction formulas, and validation of its German versionAndreas Thieme, Kerstin Rubarth, Raquel van der Veen, et al.
Pageof 52

Showing results (301-310 of 511) with videos related to

Sort By:
Pageof 52
Journal of Neurology|July 10, 2025
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case seriesArmand Hocquel, David Pellerin, Jean Loup Méreaux, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 25, 2023
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative AtaxiaDemet Oender, Jennifer Faber, Carlo Wilke, et al.
Brain : a Journal of Neurology|January 2, 2026
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrumJohanna R Roller, Ashraf Yahia, Giovanni Stevanin, et al.
Annals of Neurology|August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaKatherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 16, 2021
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral BloodJeannette Hübener-Schmid, Kirsten Kuhlbrodt, Julien Peladan, et al.
Annals of Neurology|May 27, 2023
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia PatientsAndreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 7, 2023
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 PatientsAndreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, et al.
BMC Medicine|March 25, 2026
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disordersMehrdad A Estiar, Eric Yu, Parizad Varghaei, et al.
Journal of Neurology|April 17, 2025
Optimizing selectivity of the Cerebellar Cognitive Affective Syndrome Scale by use of correction formulas, and validation of its German versionAndreas Thieme, Kerstin Rubarth, Raquel van der Veen, et al.
Pageof 52