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Stephan Züchner

Showing results (161-170 of 198) with videos related to

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Brain : a Journal of Neurology|June 9, 2025
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
American Journal of Human Genetics|April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databasesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Nature Genetics|April 28, 2019
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
Brain : a Journal of Neurology|April 4, 2017
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathyPei-Chien Tsai, Bing-Wen Soong, Inès Mademan, et al.
Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Pageof 20

Showing results (161-170 of 198) with videos related to

Sort By:
Pageof 20
Brain : a Journal of Neurology|June 9, 2025
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
American Journal of Human Genetics|April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databasesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Nature Genetics|April 28, 2019
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
Brain : a Journal of Neurology|April 4, 2017
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathyPei-Chien Tsai, Bing-Wen Soong, Inès Mademan, et al.
Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Pageof 20