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Matthis Synofzik

Showing results (81-90 of 511) with videos related to

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Neuro-Degenerative Diseases|May 21, 2016
Ambulatory Activity Components Deteriorate Differently across Neurodegenerative Diseases: A Cross-Sectional Sensor-Based StudyJochen Klenk, Karin Srulijes, Cornelia Schatton, et al.
Journal of Neurology|September 5, 2015
NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screeningMatthis Synofzik, Florian Harmuth, Miriam Stampfer, et al.
Neurology|July 3, 2020
Real-life gait assessment in degenerative cerebellar ataxia: Toward ecologically valid biomarkersWinfried Ilg, Jens Seemann, Martin Giese, et al.
The AAPS Journal|April 30, 2024
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)Niels Hendrickx, France Mentré, Andreas Traschütz, et al.
Clinical and Translational Medicine|January 27, 2024
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxiaDavid Pellerin, Matt C Danzi, Mathilde Renaud, et al.
Brain : a Journal of Neurology|July 6, 2022
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changesAdriana P Rebelo, Benjamin Bender, Tobias B Haack, et al.
Molecular Therapy. Nucleic Acids|November 23, 2016
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1Tobias Bonifert, Irene Gonzalez Menendez, Florian Battke, et al.
International Journal of Molecular Sciences|October 28, 2015
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val MutationDietmar R Thal, Stephan Züchner, Stephan Gierer, et al.
Journal of Neurology|May 5, 2017
Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessmentAdam P Vogel, Natalie Rommel, Carina Sauer, et al.
Journal of Neurology|April 29, 2023
Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxiaZofia Fleszar, Claudia Dufke, Marc Sturm, et al.
Pageof 52

Showing results (81-90 of 511) with videos related to

Sort By:
Pageof 52
Neuro-Degenerative Diseases|May 21, 2016
Ambulatory Activity Components Deteriorate Differently across Neurodegenerative Diseases: A Cross-Sectional Sensor-Based StudyJochen Klenk, Karin Srulijes, Cornelia Schatton, et al.
Journal of Neurology|September 5, 2015
NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screeningMatthis Synofzik, Florian Harmuth, Miriam Stampfer, et al.
Neurology|July 3, 2020
Real-life gait assessment in degenerative cerebellar ataxia: Toward ecologically valid biomarkersWinfried Ilg, Jens Seemann, Martin Giese, et al.
The AAPS Journal|April 30, 2024
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)Niels Hendrickx, France Mentré, Andreas Traschütz, et al.
Clinical and Translational Medicine|January 27, 2024
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxiaDavid Pellerin, Matt C Danzi, Mathilde Renaud, et al.
Brain : a Journal of Neurology|July 6, 2022
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changesAdriana P Rebelo, Benjamin Bender, Tobias B Haack, et al.
Molecular Therapy. Nucleic Acids|November 23, 2016
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1Tobias Bonifert, Irene Gonzalez Menendez, Florian Battke, et al.
International Journal of Molecular Sciences|October 28, 2015
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val MutationDietmar R Thal, Stephan Züchner, Stephan Gierer, et al.
Journal of Neurology|May 5, 2017
Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessmentAdam P Vogel, Natalie Rommel, Carina Sauer, et al.
Journal of Neurology|April 29, 2023
Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxiaZofia Fleszar, Claudia Dufke, Marc Sturm, et al.
Pageof 52