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Jonathan Baets

Showing results (41-50 of 135) with videos related to

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Neuromuscular Disorders : NMD|January 27, 2009
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entityJonathan Baets, Ines Dierick, Chantal Ceuterick-de Groote, et al.
Brain : a Journal of Neurology|August 8, 2018
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxiaIlse Eidhof, Jonathan Baets, Erik-Jan Kamsteeg, et al.
Brain : a Journal of Neurology|July 24, 2019
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathyDanique Beijer, Tine Deconinck, Jan L De Bleecker, et al.
Human Molecular Genetics|July 8, 2026
A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathyGonzalo Perez-Siles, Bianca R Grosz, Melina Ellis, et al.
Scientific Reports|March 28, 2024
Vitamin D<sub>3</sub> deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasisSabrina Ehnert, Stefan Hauser, Holger Hengel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 14, 2025
TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 VariantsJonathan De Winter, Liedewei Van de Vondel, Kristof Van Schil, et al.
Neurology|December 19, 2019
Multisystem proteinopathy due to a homozygous p.Arg159His <i>VCP</i> mutation: A tale of the unexpectedWillem De Ridder, Abdelkrim Azmi, Christoph S Clemen, et al.
Mitochondrion|February 9, 2016
Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analysesArnaud V Vanlander, Laura Muiño Mosquera, Joseph Panzer, et al.
Journal of Cachexia, Sarcopenia and Muscle|June 9, 2025
Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body MyositisGeert M de Vries, Bob Asselbergh, Alice Monticelli, et al.
Journal of Neurology|March 15, 2014
Whole-exome sequencing in patients with inherited neuropathies: outcome and challengesMaria Schabhüttl, Thomas Wieland, Jan Senderek, et al.
Pageof 14

Showing results (41-50 of 135) with videos related to

Sort By:
Pageof 14
Neuromuscular Disorders : NMD|January 27, 2009
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entityJonathan Baets, Ines Dierick, Chantal Ceuterick-de Groote, et al.
Brain : a Journal of Neurology|August 8, 2018
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxiaIlse Eidhof, Jonathan Baets, Erik-Jan Kamsteeg, et al.
Brain : a Journal of Neurology|July 24, 2019
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathyDanique Beijer, Tine Deconinck, Jan L De Bleecker, et al.
Human Molecular Genetics|July 8, 2026
A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathyGonzalo Perez-Siles, Bianca R Grosz, Melina Ellis, et al.
Scientific Reports|March 28, 2024
Vitamin D<sub>3</sub> deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasisSabrina Ehnert, Stefan Hauser, Holger Hengel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 14, 2025
TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 VariantsJonathan De Winter, Liedewei Van de Vondel, Kristof Van Schil, et al.
Neurology|December 19, 2019
Multisystem proteinopathy due to a homozygous p.Arg159His <i>VCP</i> mutation: A tale of the unexpectedWillem De Ridder, Abdelkrim Azmi, Christoph S Clemen, et al.
Mitochondrion|February 9, 2016
Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analysesArnaud V Vanlander, Laura Muiño Mosquera, Joseph Panzer, et al.
Journal of Cachexia, Sarcopenia and Muscle|June 9, 2025
Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body MyositisGeert M de Vries, Bob Asselbergh, Alice Monticelli, et al.
Journal of Neurology|March 15, 2014
Whole-exome sequencing in patients with inherited neuropathies: outcome and challengesMaria Schabhüttl, Thomas Wieland, Jan Senderek, et al.
Pageof 14