Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Stephan Züchner

Showing results (41-50 of 198) with videos related to

Pageof 20
Sort By:
Journal of the Peripheral Nervous System : JPNS|May 28, 2014
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse modelAlleene V Strickland, Adriana P Rebelo, Fan Zhang, et al.
Human Mutation|August 30, 2014
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutationsLaurie B Griffin, Reiko Sakaguchi, David McGuigan, et al.
HGG Advances|September 19, 2025
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative propertiesSheila M Peeples, Keyana Blake, Brendan L M Sutton, et al.
Cell Reports|July 27, 2023
COPI-regulated mitochondria-ER contact site formation maintains axonal integrityDaniel C Maddison, Bilal Malik, Leonardo Amadio, et al.
Human Mutation|September 3, 2010
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson diseaseGüney Bademci, Todd L Edwards, Andre L Torres, et al.
Plos One|March 26, 2020
Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited diseaseElena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|June 4, 2013
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutationRegina M Carney, Martin A Kohli, Brian W Kunkle, et al.
Annals of Neurology|March 9, 2023
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate EndpointsMary M Reilly, David N Herrmann, Davide Pareyson, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxiasDana M Bis, Rebecca Schüle, Jennifer Reichbauer, et al.
Brain : a Journal of Neurology|November 8, 2025
Charcot-Marie-Tooth-SORD: insights into pathology and pathophysiology from a human nerve biopsy seriesMaike F Dohrn, Davide Pareyson, Chiara Pisciotta, et al.
Pageof 20

Showing results (41-50 of 198) with videos related to

Sort By:
Pageof 20
Journal of the Peripheral Nervous System : JPNS|May 28, 2014
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse modelAlleene V Strickland, Adriana P Rebelo, Fan Zhang, et al.
Human Mutation|August 30, 2014
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutationsLaurie B Griffin, Reiko Sakaguchi, David McGuigan, et al.
HGG Advances|September 19, 2025
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative propertiesSheila M Peeples, Keyana Blake, Brendan L M Sutton, et al.
Cell Reports|July 27, 2023
COPI-regulated mitochondria-ER contact site formation maintains axonal integrityDaniel C Maddison, Bilal Malik, Leonardo Amadio, et al.
Human Mutation|September 3, 2010
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson diseaseGüney Bademci, Todd L Edwards, Andre L Torres, et al.
Plos One|March 26, 2020
Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited diseaseElena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|June 4, 2013
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutationRegina M Carney, Martin A Kohli, Brian W Kunkle, et al.
Annals of Neurology|March 9, 2023
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate EndpointsMary M Reilly, David N Herrmann, Davide Pareyson, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxiasDana M Bis, Rebecca Schüle, Jennifer Reichbauer, et al.
Brain : a Journal of Neurology|November 8, 2025
Charcot-Marie-Tooth-SORD: insights into pathology and pathophysiology from a human nerve biopsy seriesMaike F Dohrn, Davide Pareyson, Chiara Pisciotta, et al.
Pageof 20