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Jonathan Baets

Showing results (51-60 of 135) with videos related to

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European Journal of Human Genetics : EJHG|September 25, 2025
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathyLiedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, et al.
Journal of Medical Genetics|March 27, 2019
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activationSusanna Tulli, Andrea Del Bondio, Valentina Baderna, et al.
BMC Medical Genetics|July 21, 2015
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyKatrien Smets, Anna Duarri, Tine Deconinck, et al.
European Journal of Neurology|March 7, 2022
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxiaDanique Beijer, Maike F Dohrn, Jonathan De Winter, et al.
Annals of Neurology|October 1, 2016
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1Kristien Peeters, Paulius Palaima, Ana L Pelayo-Negro, et al.
Brain : a Journal of Neurology|August 5, 2009
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlationAnnelies Rotthier, Jonathan Baets, Els De Vriendt, et al.
Orphanet Journal of Rare Diseases|October 14, 2022
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profilingMatilde Malcorps, Silvia Amor-Barris, Birute Burnyte, et al.
Neurobiology of Disease|June 12, 2021
Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosisJulie van der Zee, Lubina Dillen, Yalda Baradaran-Heravi, et al.
JIMD Reports|June 10, 2026
Heterozygous <i>OGDH</i> Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical AtrophyLiedewei Van de Vondel, Gyu S Lee, Jonathan De Winter, et al.
Neurology|May 13, 2014
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28Katrien Smets, Tine Deconinck, Jonathan Baets, et al.
Pageof 14

Showing results (51-60 of 135) with videos related to

Sort By:
Pageof 14
European Journal of Human Genetics : EJHG|September 25, 2025
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathyLiedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, et al.
Journal of Medical Genetics|March 27, 2019
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activationSusanna Tulli, Andrea Del Bondio, Valentina Baderna, et al.
BMC Medical Genetics|July 21, 2015
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsyKatrien Smets, Anna Duarri, Tine Deconinck, et al.
European Journal of Neurology|March 7, 2022
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxiaDanique Beijer, Maike F Dohrn, Jonathan De Winter, et al.
Annals of Neurology|October 1, 2016
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1Kristien Peeters, Paulius Palaima, Ana L Pelayo-Negro, et al.
Brain : a Journal of Neurology|August 5, 2009
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlationAnnelies Rotthier, Jonathan Baets, Els De Vriendt, et al.
Orphanet Journal of Rare Diseases|October 14, 2022
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profilingMatilde Malcorps, Silvia Amor-Barris, Birute Burnyte, et al.
Neurobiology of Disease|June 12, 2021
Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosisJulie van der Zee, Lubina Dillen, Yalda Baradaran-Heravi, et al.
JIMD Reports|June 10, 2026
Heterozygous <i>OGDH</i> Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical AtrophyLiedewei Van de Vondel, Gyu S Lee, Jonathan De Winter, et al.
Neurology|May 13, 2014
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28Katrien Smets, Tine Deconinck, Jonathan Baets, et al.
Pageof 14