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G Claeys

Showing results (191-200 of 239) with videos related to

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Annals of Clinical and Translational Neurology|March 19, 2026
Cracking the Code: Genotype-Phenotype Correlation Models in SarcoglycanopathiesLeonela Luce, Goknur Selen Kocak, José Verdú-Díaz, et al.
Acta Neuropathologica|July 16, 2024
Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathyMarie-Therese Holzer, Akinori Uruha, Andreas Roos, et al.
Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.
Annals of Neurology|January 27, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Stephan Züchner, Peter De Jonghe, Albena Jordanova, et al.
Human Mutation|July 26, 2006
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patientsArvid Suls, Kristl G Claeys, Dirk Goossens, et al.
Orphanet Journal of Rare Diseases|April 28, 2022
Small fiber involvement is independent from clinical pain in late-onset Pompe diseaseElena K Enax-Krumova, Iris Dahlhaus, Jonas Görlach, et al.
Archives of Neurology|May 16, 2007
Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana Ivanova, Kristl G Claeys, Tine Deconinck, et al.
Orphanet Journal of Rare Diseases|September 11, 2014
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathiesAnna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.
Acta Neuropathologica|June 21, 2019
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathyJacob A Ross, Yotam Levy, Michela Ripolone, et al.
Pageof 24

Showing results (191-200 of 239) with videos related to

Sort By:
Pageof 24
Annals of Clinical and Translational Neurology|March 19, 2026
Cracking the Code: Genotype-Phenotype Correlation Models in SarcoglycanopathiesLeonela Luce, Goknur Selen Kocak, José Verdú-Díaz, et al.
Acta Neuropathologica|July 16, 2024
Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathyMarie-Therese Holzer, Akinori Uruha, Andreas Roos, et al.
Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.
Annals of Neurology|January 27, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Stephan Züchner, Peter De Jonghe, Albena Jordanova, et al.
Human Mutation|July 26, 2006
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patientsArvid Suls, Kristl G Claeys, Dirk Goossens, et al.
Orphanet Journal of Rare Diseases|April 28, 2022
Small fiber involvement is independent from clinical pain in late-onset Pompe diseaseElena K Enax-Krumova, Iris Dahlhaus, Jonas Görlach, et al.
Archives of Neurology|May 16, 2007
Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana Ivanova, Kristl G Claeys, Tine Deconinck, et al.
Orphanet Journal of Rare Diseases|September 11, 2014
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathiesAnna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.
Acta Neuropathologica|June 21, 2019
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathyJacob A Ross, Yotam Levy, Michela Ripolone, et al.
Pageof 24