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Jonathan Baets

Showing results (91-100 of 135) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseEppie M Yiu, Paula Bray, Jonathan Baets, et al.
JAMA Neurology|February 14, 2017
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat ExpansionSara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, et al.
Brain : a Journal of Neurology|March 8, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick, Jonathan Baets, Joy Irobi, et al.
American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, 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.
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.
Journal of Neurology|January 15, 2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, 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.
JCI Insight|July 22, 2021
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentationDanique Beijer, Hong Joo Kim, Lin Guo, et al.
Brain : a Journal of Neurology|February 14, 2015
Defects of mutant DNMT1 are linked to a spectrum of neurological disordersJonathan Baets, Xiaohui Duan, Yanhong Wu, et al.
Pageof 14

Showing results (91-100 of 135) with videos related to

Sort By:
Pageof 14
Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseEppie M Yiu, Paula Bray, Jonathan Baets, et al.
JAMA Neurology|February 14, 2017
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat ExpansionSara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, et al.
Brain : a Journal of Neurology|March 8, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick, Jonathan Baets, Joy Irobi, et al.
American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, 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.
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.
Journal of Neurology|January 15, 2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, 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.
JCI Insight|July 22, 2021
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentationDanique Beijer, Hong Joo Kim, Lin Guo, et al.
Brain : a Journal of Neurology|February 14, 2015
Defects of mutant DNMT1 are linked to a spectrum of neurological disordersJonathan Baets, Xiaohui Duan, Yanhong Wu, et al.
Pageof 14