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Stephan Züchner

Showing results (181-190 of 198) with videos related to

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Neurology|February 13, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Stefan Sillau, Gyula Acsadi, et al.
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, 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.
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 Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, 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.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Neuron|August 18, 2017
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule DynamicsIan R Mackenzie, Alexandra M Nicholson, Mohona Sarkar, et al.
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Pageof 20

Showing results (181-190 of 198) with videos related to

Sort By:
Pageof 20
Neurology|February 13, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Stefan Sillau, Gyula Acsadi, et al.
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, 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.
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 Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, 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.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
Neuron|August 18, 2017
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule DynamicsIan R Mackenzie, Alexandra M Nicholson, Mohona Sarkar, et al.
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Pageof 20