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Stephan Zuchner

Showing results (31-40 of 149) with videos related to

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Neurology. Genetics|December 12, 2018
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.
Pediatric Research|June 10, 2025
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methodsPimchanok Kulsirichawaroj, Mongkol Chanvanichtrakool, Pish Wattanadilokchatkun, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic ImplicationsElisabetta Indelicato, Zofia Fleszar, David Pellerin, et al.
Journal of Neuropathology and Experimental Neurology|November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionJean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
Journal of the Peripheral Nervous System : JPNS|November 11, 2019
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCsFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
Neurology|June 26, 2015
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2EChiara Pisciotta, Yunhong Bai, Kathryn M Brennan, et al.
Journal of Neurology|May 24, 2026
Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVASDavid Pellerin, Felix Heindl, Andreas Traschütz, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|July 10, 2024
Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegiaAmanda G Lobato, Natalie Ortiz-Vega, Tijana Canic, et al.
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
Case Reports in Genetics|April 17, 2015
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP MutationNivedita U Jerath, Cameron D Crockett, Steven A Moore, et al.
Pageof 15

Showing results (31-40 of 149) with videos related to

Sort By:
Pageof 15
Neurology. Genetics|December 12, 2018
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.
Pediatric Research|June 10, 2025
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methodsPimchanok Kulsirichawaroj, Mongkol Chanvanichtrakool, Pish Wattanadilokchatkun, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic ImplicationsElisabetta Indelicato, Zofia Fleszar, David Pellerin, et al.
Journal of Neuropathology and Experimental Neurology|November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionJean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
Journal of the Peripheral Nervous System : JPNS|November 11, 2019
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCsFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
Neurology|June 26, 2015
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2EChiara Pisciotta, Yunhong Bai, Kathryn M Brennan, et al.
Journal of Neurology|May 24, 2026
Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVASDavid Pellerin, Felix Heindl, Andreas Traschütz, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|July 10, 2024
Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegiaAmanda G Lobato, Natalie Ortiz-Vega, Tijana Canic, et al.
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
Case Reports in Genetics|April 17, 2015
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP MutationNivedita U Jerath, Cameron D Crockett, Steven A Moore, et al.
Pageof 15