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Stephan Züchner

Showing results (131-140 of 198) with videos related to

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Annals of Human Genetics|January 15, 2010
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson diseaseTodd L Edwards, William K Scott, Cherylyn Almonte, et al.
Neurobiology of Aging|February 7, 2012
Vitamin D receptor and Alzheimer's disease: a genetic and functional studyLiyong Wang, Kenju Hara, Jessica M Van Baaren, et al.
Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.
Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.
Annals of Neurology|February 10, 2016
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patientsRebecca Schüle, Sarah Wiethoff, Peter Martus, 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.
Annals of Neurology|January 27, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Stephan Züchner, Peter De Jonghe, Albena Jordanova, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 15, 2017
Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth diseaseAlejandro Horga, Matilde Laurà, Zane Jaunmuktane, 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.
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Pageof 20

Showing results (131-140 of 198) with videos related to

Sort By:
Pageof 20
Annals of Human Genetics|January 15, 2010
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson diseaseTodd L Edwards, William K Scott, Cherylyn Almonte, et al.
Neurobiology of Aging|February 7, 2012
Vitamin D receptor and Alzheimer's disease: a genetic and functional studyLiyong Wang, Kenju Hara, Jessica M Van Baaren, et al.
Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.
Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.
Annals of Neurology|February 10, 2016
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patientsRebecca Schüle, Sarah Wiethoff, Peter Martus, 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.
Annals of Neurology|January 27, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Stephan Züchner, Peter De Jonghe, Albena Jordanova, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 15, 2017
Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth diseaseAlejandro Horga, Matilde Laurà, Zane Jaunmuktane, 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.
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Pageof 20