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Jonathan Baets

Showing results (81-90 of 135) with videos related to

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Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, 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.
Autophagy|February 28, 2023
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathiesBarbara Tedesco, Leen Vendredy, Elias Adriaenssens, et al.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Brain : a Journal of Neurology|December 18, 2015
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohortSara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, et al.
American Journal of Human Genetics|August 9, 2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.
Annals of Neurology|May 27, 2023
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia PatientsAndreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, et al.
Pageof 14

Showing results (81-90 of 135) with videos related to

Sort By:
Pageof 14
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, 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.
Autophagy|February 28, 2023
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathiesBarbara Tedesco, Leen Vendredy, Elias Adriaenssens, et al.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Brain : a Journal of Neurology|December 18, 2015
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohortSara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, et al.
American Journal of Human Genetics|August 9, 2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.
Annals of Neurology|May 27, 2023
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia PatientsAndreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, et al.
Pageof 14