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 (31-40 of 198) with videos related to

Pageof 20
Sort By:
Biorxiv : the Preprint Server for Biology|December 11, 2023
Testing SIPA1L2 as a modifier of CMT1A using mouse modelsGeorge C Murray, Timothy J Hines, Abigail L D Tadenev, et al.
American Journal of Human Genetics|November 20, 2015
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and AtaxiaWolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle, et al.
Cerebellum (London, England)|March 4, 2023
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global InitiativeDanique Beijer, Brent L Fogel, Sergi Beltran, et al.
Nature Communications|July 13, 2023
Deep structured learning for variant prioritization in Mendelian diseasesMatt C Danzi, Maike F Dohrn, Sarah Fazal, et al.
Journal of Neuropathology and Experimental Neurology|March 13, 2024
Testing SIPA1L2 as a modifier of CMT1A using mouse modelsGeorge C Murray, Timothy J Hines, Abigail L D Tadenev, et al.
The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry|October 4, 2007
Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depressionWarren D Taylor, Stephan Züchner, Douglas R McQuoid, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 4, 2008
Social support in older individuals: the role of the BDNF Val66Met polymorphismWarren D Taylor, Stephan Züchner, Douglas R McQuoid, et al.
Journal of Neuromuscular Diseases|December 13, 2021
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case reportDanique Beijer, Kiran Polavarapu, Veeramani Preethish-Kumar, et al.
Neuromuscular Disorders : NMD|January 16, 2019
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 familyLois Dankwa, Jessica Richardson, William W Motley, et al.
Journal of Neurology|December 2, 2009
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth diseaseJia Huang, Xingyao Wu, Gladys Montenegro, et al.
Pageof 20

Showing results (31-40 of 198) with videos related to

Sort By:
Pageof 20
Biorxiv : the Preprint Server for Biology|December 11, 2023
Testing SIPA1L2 as a modifier of CMT1A using mouse modelsGeorge C Murray, Timothy J Hines, Abigail L D Tadenev, et al.
American Journal of Human Genetics|November 20, 2015
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and AtaxiaWolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle, et al.
Cerebellum (London, England)|March 4, 2023
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global InitiativeDanique Beijer, Brent L Fogel, Sergi Beltran, et al.
Nature Communications|July 13, 2023
Deep structured learning for variant prioritization in Mendelian diseasesMatt C Danzi, Maike F Dohrn, Sarah Fazal, et al.
Journal of Neuropathology and Experimental Neurology|March 13, 2024
Testing SIPA1L2 as a modifier of CMT1A using mouse modelsGeorge C Murray, Timothy J Hines, Abigail L D Tadenev, et al.
The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry|October 4, 2007
Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depressionWarren D Taylor, Stephan Züchner, Douglas R McQuoid, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 4, 2008
Social support in older individuals: the role of the BDNF Val66Met polymorphismWarren D Taylor, Stephan Züchner, Douglas R McQuoid, et al.
Journal of Neuromuscular Diseases|December 13, 2021
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case reportDanique Beijer, Kiran Polavarapu, Veeramani Preethish-Kumar, et al.
Neuromuscular Disorders : NMD|January 16, 2019
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 familyLois Dankwa, Jessica Richardson, William W Motley, et al.
Journal of Neurology|December 2, 2009
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth diseaseJia Huang, Xingyao Wu, Gladys Montenegro, et al.
Pageof 20