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Stephan Zuchner

Showing results (41-50 of 149) with videos related to

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American Journal of Medical Genetics. Part A|October 14, 2024
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease NetworkNicholas A Borja, Rory J Tinker, Stephanie A Bivona, et al.
Journal of Neurology|June 26, 2023
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathiesMengli Wang, Honglan Yang, Zhiqiang Lin, et al.
Brain : a Journal of Neurology|July 15, 2024
Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth diseaseJessica Medina, Adriana Rebelo, Matt C Danzi, et al.
Circulation. Cardiovascular Genetics|February 19, 2013
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathyNadine Norton, Duanxiang Li, Evadnie Rampersaud, et al.
Brain : a Journal of Neurology|August 16, 2014
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 diseaseMichael A Gonzalez, Shawna M Feely, Fiorella Speziani, et al.
Brain : a Journal of Neurology|March 14, 2024
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth diseaseChristopher J Record, Menelaos Pipis, Mariola Skorupinska, et al.
Brain : a Journal of Neurology|January 20, 2018
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiencyAdriana P Rebelo, Dimah Saade, Claudia V Pereira, et al.
Annals of Neurology|December 15, 2015
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signsObaid M Albulym, Marina L Kennerson, Matthew B Harms, et al.
Neurology|November 1, 2015
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndromeRoger G Whittaker, David N Herrmann, Boglarka Bansagi, et al.
Biorxiv : the Preprint Server for Biology|December 18, 2023
Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Pageof 15

Showing results (41-50 of 149) with videos related to

Sort By:
Pageof 15
American Journal of Medical Genetics. Part A|October 14, 2024
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease NetworkNicholas A Borja, Rory J Tinker, Stephanie A Bivona, et al.
Journal of Neurology|June 26, 2023
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathiesMengli Wang, Honglan Yang, Zhiqiang Lin, et al.
Brain : a Journal of Neurology|July 15, 2024
Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth diseaseJessica Medina, Adriana Rebelo, Matt C Danzi, et al.
Circulation. Cardiovascular Genetics|February 19, 2013
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathyNadine Norton, Duanxiang Li, Evadnie Rampersaud, et al.
Brain : a Journal of Neurology|August 16, 2014
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 diseaseMichael A Gonzalez, Shawna M Feely, Fiorella Speziani, et al.
Brain : a Journal of Neurology|March 14, 2024
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth diseaseChristopher J Record, Menelaos Pipis, Mariola Skorupinska, et al.
Brain : a Journal of Neurology|January 20, 2018
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiencyAdriana P Rebelo, Dimah Saade, Claudia V Pereira, et al.
Annals of Neurology|December 15, 2015
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signsObaid M Albulym, Marina L Kennerson, Matthew B Harms, et al.
Neurology|November 1, 2015
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndromeRoger G Whittaker, David N Herrmann, Boglarka Bansagi, et al.
Biorxiv : the Preprint Server for Biology|December 18, 2023
Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Pageof 15