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Matthis Synofzik

Showing results (261-270 of 511) with videos related to

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Brain : a Journal of Neurology|December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumMatthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.
European Journal of Neurology|April 16, 2025
High Agreement Across Laboratories Between Different Alpha-Synuclein Seed Amplification ProtocolsStefan Bräuer, Maximilian Weber, Christian Deuschle, et al.
Orphanet Journal of Rare Diseases|March 19, 2013
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrumMatthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, et al.
American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.
Therapeutic Advances in Rare Disease|May 29, 2025
From roadmap to a sustainable end-to-end individualized therapy pathwayAnneliene H Jonker, Elena-Alexandra Tataru, David P Dimmock, et al.
Brain : a Journal of Neurology|May 21, 2016
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrumInès Mademan, Florian Harmuth, Ilaria Giordano, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 27, 2021
Outcomes of SARS-CoV-2 Infections in Patients with Neurodegenerative Diseases in the LEOSS CohortMeret K Huber, Claudia Raichle, Paul Lingor, et al.
Brain Communications|April 4, 2023
Structural correlates of language processing in primary progressive aphasiaCurtiss A Chapman, Maryna Polyakova, Karsten Mueller, et al.
BMC Neurology|October 11, 2015
Association between vestibulo-ocular reflex suppression, balance, gait, and fall risk in ageing and neurodegenerative disease: protocol of a one-year prospective follow-up studyKarin Srulijes, David J Mack, Jochen Klenk, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansionMasato Obayashi, Giovanni Stevanin, Matthis Synofzik, et al.
Pageof 52

Showing results (261-270 of 511) with videos related to

Sort By:
Pageof 52
Brain : a Journal of Neurology|December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumMatthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.
European Journal of Neurology|April 16, 2025
High Agreement Across Laboratories Between Different Alpha-Synuclein Seed Amplification ProtocolsStefan Bräuer, Maximilian Weber, Christian Deuschle, et al.
Orphanet Journal of Rare Diseases|March 19, 2013
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrumMatthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, et al.
American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.
Therapeutic Advances in Rare Disease|May 29, 2025
From roadmap to a sustainable end-to-end individualized therapy pathwayAnneliene H Jonker, Elena-Alexandra Tataru, David P Dimmock, et al.
Brain : a Journal of Neurology|May 21, 2016
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrumInès Mademan, Florian Harmuth, Ilaria Giordano, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 27, 2021
Outcomes of SARS-CoV-2 Infections in Patients with Neurodegenerative Diseases in the LEOSS CohortMeret K Huber, Claudia Raichle, Paul Lingor, et al.
Brain Communications|April 4, 2023
Structural correlates of language processing in primary progressive aphasiaCurtiss A Chapman, Maryna Polyakova, Karsten Mueller, et al.
BMC Neurology|October 11, 2015
Association between vestibulo-ocular reflex suppression, balance, gait, and fall risk in ageing and neurodegenerative disease: protocol of a one-year prospective follow-up studyKarin Srulijes, David J Mack, Jochen Klenk, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansionMasato Obayashi, Giovanni Stevanin, Matthis Synofzik, et al.
Pageof 52