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Stephan Züchner

Showing results (151-160 of 198) with videos related to

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Nature Genetics|April 6, 2004
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AStephan Züchner, Irina V Mersiyanova, Maria Muglia, et al.
American Journal of Human Genetics|October 6, 2010
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathyHeather M McLaughlin, Reiko Sakaguchi, Cuiping Liu, et al.
Elife|November 19, 2021
Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disordersJonathan Gilley, Oscar Jackson, Menelaos Pipis, et al.
The Journal of Clinical Investigation|January 11, 2012
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12Gladys Montenegro, Adriana P Rebelo, James Connell, et al.
Ebiomedicine|April 24, 2025
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortDanique Beijer, David Mengel, Demet Önder, et al.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Defining a tandem repeat catalog and variation clusters for genome-wide analysesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Science (New York, N.Y.)|June 9, 2012
dSarm/Sarm1 is required for activation of an injury-induced axon death pathwayJeannette M Osterloh, Jing Yang, Timothy M Rooney, et al.
Brain : a Journal of Neurology|April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre studyMatthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Medrxiv : the Preprint Server for Health Sciences|May 9, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of <i>PMP22</i> VariantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, et al.
Pageof 20

Showing results (151-160 of 198) with videos related to

Sort By:
Pageof 20
Nature Genetics|April 6, 2004
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AStephan Züchner, Irina V Mersiyanova, Maria Muglia, et al.
American Journal of Human Genetics|October 6, 2010
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathyHeather M McLaughlin, Reiko Sakaguchi, Cuiping Liu, et al.
Elife|November 19, 2021
Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disordersJonathan Gilley, Oscar Jackson, Menelaos Pipis, et al.
The Journal of Clinical Investigation|January 11, 2012
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12Gladys Montenegro, Adriana P Rebelo, James Connell, et al.
Ebiomedicine|April 24, 2025
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortDanique Beijer, David Mengel, Demet Önder, et al.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Defining a tandem repeat catalog and variation clusters for genome-wide analysesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Science (New York, N.Y.)|June 9, 2012
dSarm/Sarm1 is required for activation of an injury-induced axon death pathwayJeannette M Osterloh, Jing Yang, Timothy M Rooney, et al.
Brain : a Journal of Neurology|April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre studyMatthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Medrxiv : the Preprint Server for Health Sciences|May 9, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of <i>PMP22</i> VariantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, et al.
Pageof 20