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Matthis Synofzik

Showing results (271-280 of 511) with videos related to

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Cerebellum (London, England)|May 7, 2024
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar AtaxiaMichele Potashman, Katja Rudell, Ivanna Pavisic, et al.
Neurology and Therapy|January 15, 2025
Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar AtaxiaMichele Potashman, Katja Rudell, Naomi Suminski, et al.
Frontiers in Neurology|September 21, 2017
Validation of a Step Detection Algorithm during Straight Walking and Turning in Patients with Parkinson's Disease and Older Adults Using an Inertial Measurement Unit at the Lower BackMinh H Pham, Morad Elshehabi, Linda Haertner, et al.
Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosisMaike F Dohrn, Danique Beijer, Museer A Lone, et al.
European Journal of Human Genetics : EJHG|June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel functionMatthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|December 7, 2021
Conceptual framework for the definition of preclinical and prodromal frontotemporal dementiaAlberto Benussi, Antonella Alberici, Kiran Samra, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|March 31, 2019
Unraveling corticobasal syndrome and alien limb syndrome with structural brain imagingFranziska Albrecht, Karsten Mueller, Tommaso Ballarini, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 3, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathyDavid Pellerin, Carlo Wilke, Andreas Traschütz, et al.
Pageof 52

Showing results (271-280 of 511) with videos related to

Sort By:
Pageof 52
Cerebellum (London, England)|May 7, 2024
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar AtaxiaMichele Potashman, Katja Rudell, Ivanna Pavisic, et al.
Neurology and Therapy|January 15, 2025
Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar AtaxiaMichele Potashman, Katja Rudell, Naomi Suminski, et al.
Frontiers in Neurology|September 21, 2017
Validation of a Step Detection Algorithm during Straight Walking and Turning in Patients with Parkinson's Disease and Older Adults Using an Inertial Measurement Unit at the Lower BackMinh H Pham, Morad Elshehabi, Linda Haertner, et al.
Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosisMaike F Dohrn, Danique Beijer, Museer A Lone, et al.
European Journal of Human Genetics : EJHG|June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel functionMatthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|December 7, 2021
Conceptual framework for the definition of preclinical and prodromal frontotemporal dementiaAlberto Benussi, Antonella Alberici, Kiran Samra, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|March 31, 2019
Unraveling corticobasal syndrome and alien limb syndrome with structural brain imagingFranziska Albrecht, Karsten Mueller, Tommaso Ballarini, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 3, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathyDavid Pellerin, Carlo Wilke, Andreas Traschütz, et al.
Pageof 52