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Els De Vriendt

Showing results (1-10 of 42) with videos related to

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Journal of Parkinson'S Disease|July 4, 2018
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 MutationRivka Inzelberg, Alejandro Estrada-Cuzcano, Yael Laitman, et al.
Annals of the New York Academy of Sciences|November 1, 2017
Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24Joy Irobi, Vincent Timmerman, Peter De Jonghe, et al.
Journal of the Peripheral Nervous System : JPNS|July 2, 2002
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3Joy Irobi, Eva Nelis, Kristien Verhoeven, et al.
Journal of Neurology|April 17, 2015
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotypeJosé Berciano, Antonio García, Kristien Peeters, et al.
Amino Acids|March 9, 2011
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMTRicardo Leitão-Gonçalves, Biljana Ermanoska, An Jacobs, et al.
Human Molecular Genetics|April 9, 2013
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathyEmil Ylikallio, Rosanna Pöyhönen, Magdalena Zimon, et al.
Orphanet Journal of Rare Diseases|March 5, 2021
HINT1 neuropathy in Norway: clinical, genetic and functional profilingSilvia Amor-Barris, Helle Høyer, Lin V Brauteset, et al.
Iscience|May 4, 2026
Unperturbed dye-based imaging of spontaneous synchronized calcium activity in iPSC-derived neuronal culturesNina Dirkx, Bob Asselbergh, Peter Verstraelen, et al.
Neurology|April 24, 2015
A novel AARS mutation in a family with dominant myeloneuropathyWilliam W Motley, Laurie B Griffin, Inès Mademan, et al.
Journal of Child Neurology|November 13, 2012
Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 MutationSaid Ali Al-Yahyaee, Mohammed Al-Kindi, Peter De Jonghe, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Journal of Parkinson'S Disease|July 4, 2018
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 MutationRivka Inzelberg, Alejandro Estrada-Cuzcano, Yael Laitman, et al.
Annals of the New York Academy of Sciences|November 1, 2017
Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24Joy Irobi, Vincent Timmerman, Peter De Jonghe, et al.
Journal of the Peripheral Nervous System : JPNS|July 2, 2002
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3Joy Irobi, Eva Nelis, Kristien Verhoeven, et al.
Journal of Neurology|April 17, 2015
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotypeJosé Berciano, Antonio García, Kristien Peeters, et al.
Amino Acids|March 9, 2011
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMTRicardo Leitão-Gonçalves, Biljana Ermanoska, An Jacobs, et al.
Human Molecular Genetics|April 9, 2013
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathyEmil Ylikallio, Rosanna Pöyhönen, Magdalena Zimon, et al.
Orphanet Journal of Rare Diseases|March 5, 2021
HINT1 neuropathy in Norway: clinical, genetic and functional profilingSilvia Amor-Barris, Helle Høyer, Lin V Brauteset, et al.
Iscience|May 4, 2026
Unperturbed dye-based imaging of spontaneous synchronized calcium activity in iPSC-derived neuronal culturesNina Dirkx, Bob Asselbergh, Peter Verstraelen, et al.
Neurology|April 24, 2015
A novel AARS mutation in a family with dominant myeloneuropathyWilliam W Motley, Laurie B Griffin, Inès Mademan, et al.
Journal of Child Neurology|November 13, 2012
Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 MutationSaid Ali Al-Yahyaee, Mohammed Al-Kindi, Peter De Jonghe, et al.
Pageof 5