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Matthis Synofzik

Showing results (221-230 of 511) with videos related to

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Neurology and Therapy|May 27, 2026
Inter-assay and Inter-site Performance of Alpha-Synuclein Seed Amplification Assays in Synucleinopathies: A Multicenter 2 × 2 Protocol ComparisonRoger Plaza-Clar, Maximilian Weber, Vaibhavi Kadam, et al.
Current Alzheimer Research|March 15, 2016
Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative DiseaseCarlo Wilke, Frank Gillardon, Christian Deuschle, et al.
Brain : a Journal of Neurology|December 12, 2024
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disordersAnn-Sophie Kiesel, Lucia Laugwitz, Rebecca Buchert, et al.
Human Molecular Genetics|May 19, 2012
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALSMatthis Synofzik, Dario Ronchi, Isil Keskin, et al.
European Journal of Human Genetics : EJHG|August 25, 2021
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpointRebecca Schüle, Dagmar Timmann, Corrie E Erasmus, et al.
Journal of Neurology|December 4, 2025
Feasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX studyIlse H J Willemse, Sabato Mellone, Carlo Tacconi, et al.
Elife|January 15, 2024
Resting-state alterations in behavioral variant frontotemporal dementia are related to the distribution of monoamine and GABA neurotransmitter systemsLisa Hahn, Simon B Eickhoff, Karsten Mueller, et al.
European Journal of Human Genetics : EJHG|May 11, 2021
Solving unsolved rare neurological diseases-a Solve-RD viewpointRebecca Schüle, Dagmar Timmann, Corrie E Erasmus, et al.
Brain Sciences|January 21, 2023
Speech and Nonspeech Parameters in the Clinical Assessment of Dysarthria: A Dimensional AnalysisWolfram Ziegler, Theresa Schölderle, Bettina Brendel, et al.
BMC Medical Genetics|July 21, 2015
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyKatrien Smets, Anna Duarri, Tine Deconinck, et al.
Pageof 52

Showing results (221-230 of 511) with videos related to

Sort By:
Pageof 52
Neurology and Therapy|May 27, 2026
Inter-assay and Inter-site Performance of Alpha-Synuclein Seed Amplification Assays in Synucleinopathies: A Multicenter 2 × 2 Protocol ComparisonRoger Plaza-Clar, Maximilian Weber, Vaibhavi Kadam, et al.
Current Alzheimer Research|March 15, 2016
Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative DiseaseCarlo Wilke, Frank Gillardon, Christian Deuschle, et al.
Brain : a Journal of Neurology|December 12, 2024
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disordersAnn-Sophie Kiesel, Lucia Laugwitz, Rebecca Buchert, et al.
Human Molecular Genetics|May 19, 2012
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALSMatthis Synofzik, Dario Ronchi, Isil Keskin, et al.
European Journal of Human Genetics : EJHG|August 25, 2021
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpointRebecca Schüle, Dagmar Timmann, Corrie E Erasmus, et al.
Journal of Neurology|December 4, 2025
Feasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX studyIlse H J Willemse, Sabato Mellone, Carlo Tacconi, et al.
Elife|January 15, 2024
Resting-state alterations in behavioral variant frontotemporal dementia are related to the distribution of monoamine and GABA neurotransmitter systemsLisa Hahn, Simon B Eickhoff, Karsten Mueller, et al.
European Journal of Human Genetics : EJHG|May 11, 2021
Solving unsolved rare neurological diseases-a Solve-RD viewpointRebecca Schüle, Dagmar Timmann, Corrie E Erasmus, et al.
Brain Sciences|January 21, 2023
Speech and Nonspeech Parameters in the Clinical Assessment of Dysarthria: A Dimensional AnalysisWolfram Ziegler, Theresa Schölderle, Bettina Brendel, et al.
BMC Medical Genetics|July 21, 2015
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyKatrien Smets, Anna Duarri, Tine Deconinck, et al.
Pageof 52