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Stephan Zuchner

Showing results (21-30 of 149) with videos related to

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Stem Cell Research|October 26, 2024
Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 geneElizabeth H Jacobs, Jacquelyn Schatzman Raposo, Annarita Scardamaglia, et al.
Current Neurology and Neuroscience Reports|January 17, 2025
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat ExpansionsDavid Pellerin, Pablo Iruzubieta, Isaac R L Xu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 20, 2024
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish PatientDilşad Türkdoğan, Natalia Smolina, Şeyma Tekgül, et al.
Annals of Human Genetics|February 12, 2011
Vitamin D receptor gene as a candidate gene for Parkinson diseaseMegan W Butler, Amber Burt, Todd L Edwards, et al.
Neuromuscular Disorders : NMD|May 6, 2025
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weaknessBarbora Lauerova, Anezka Dolanska, Petra Lassuthova, et al.
Brain Communications|January 13, 2025
The <i>FGF14</i> GAA repeat expansion is a major cause of ataxia in the Cypriot populationIoannis Livanos, Christina Votsi, Kyriaki Michailidou, et al.
Biology|May 17, 2014
Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS ScreensMichael A Gonzalez, Derek Van Booven, William Hulme, et al.
Brain : a Journal of Neurology|March 31, 2015
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutationMartine Tétreault, Michael Gonzalez, Marie-Josée Dicaire, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Human genetic evidence links serine biosynthesis to diabetic peripheral neuropathyVera Fridman, Aastha Kakar, Aubrey Jensen, et al.
Clinical Genetics|November 10, 2019
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutationFabrizia Stregapede, Lorena Travaglini, Adriana P Rebelo, et al.
Pageof 15

Showing results (21-30 of 149) with videos related to

Sort By:
Pageof 15
Stem Cell Research|October 26, 2024
Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 geneElizabeth H Jacobs, Jacquelyn Schatzman Raposo, Annarita Scardamaglia, et al.
Current Neurology and Neuroscience Reports|January 17, 2025
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat ExpansionsDavid Pellerin, Pablo Iruzubieta, Isaac R L Xu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 20, 2024
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish PatientDilşad Türkdoğan, Natalia Smolina, Şeyma Tekgül, et al.
Annals of Human Genetics|February 12, 2011
Vitamin D receptor gene as a candidate gene for Parkinson diseaseMegan W Butler, Amber Burt, Todd L Edwards, et al.
Neuromuscular Disorders : NMD|May 6, 2025
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weaknessBarbora Lauerova, Anezka Dolanska, Petra Lassuthova, et al.
Brain Communications|January 13, 2025
The <i>FGF14</i> GAA repeat expansion is a major cause of ataxia in the Cypriot populationIoannis Livanos, Christina Votsi, Kyriaki Michailidou, et al.
Biology|May 17, 2014
Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS ScreensMichael A Gonzalez, Derek Van Booven, William Hulme, et al.
Brain : a Journal of Neurology|March 31, 2015
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutationMartine Tétreault, Michael Gonzalez, Marie-Josée Dicaire, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Human genetic evidence links serine biosynthesis to diabetic peripheral neuropathyVera Fridman, Aastha Kakar, Aubrey Jensen, et al.
Clinical Genetics|November 10, 2019
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutationFabrizia Stregapede, Lorena Travaglini, Adriana P Rebelo, et al.
Pageof 15