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Vincent Timmerman

Showing results (141-150 of 152) with videos related to

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Brain : a Journal of Neurology|September 20, 2015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasiaKatia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, et al.
Neurobiology of Aging|April 23, 2010
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosisElke Bogaert, An Goris, Philip Van Damme, et al.
Immunity|April 7, 2019
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8<sup>+</sup> T Cell Responses to Infection by Inhibiting T Cell Metabolic FitnessJingxia Wu, Sicong Ma, Roger Sandhoff, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 12, 2022
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar AtaxiaLiedewei Van de Vondel, Jonathan De Winter, Danique Beijer, et al.
Nature Genetics|September 11, 2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotoniaMagdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, et al.
Brain : a Journal of Neurology|May 23, 2006
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien Verhoeven, Kristl G Claeys, Stephan Züchner, et al.
Brain : a Journal of Neurology|September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathiesAnnette Lischka, Katja Eggermann, Christopher J Record, et al.
Pageof 16

Showing results (141-150 of 152) with videos related to

Sort By:
Pageof 16
Brain : a Journal of Neurology|September 20, 2015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasiaKatia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, et al.
Neurobiology of Aging|April 23, 2010
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosisElke Bogaert, An Goris, Philip Van Damme, et al.
Immunity|April 7, 2019
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8<sup>+</sup> T Cell Responses to Infection by Inhibiting T Cell Metabolic FitnessJingxia Wu, Sicong Ma, Roger Sandhoff, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 12, 2022
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar AtaxiaLiedewei Van de Vondel, Jonathan De Winter, Danique Beijer, et al.
Nature Genetics|September 11, 2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotoniaMagdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, et al.
Brain : a Journal of Neurology|May 23, 2006
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien Verhoeven, Kristl G Claeys, Stephan Züchner, et al.
Brain : a Journal of Neurology|September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathiesAnnette Lischka, Katja Eggermann, Christopher J Record, et al.
Pageof 16