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James Polke

Showing results (11-20 of 28) with videos related to

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Neuromuscular Disorders : NMD|April 10, 2012
X inactivation in females with X-linked Charcot-Marie-Tooth diseaseSinéad M Murphy, Richard Ovens, James Polke, et al.
Neurology|March 12, 2017
Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMTPedro J Tomaselli, Alexander M Rossor, Alejandro Horga, et al.
Genes|February 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture KitsClarissa Rocca, David Murphy, Chris Clarkson, et al.
European Journal of Human Genetics : EJHG|December 13, 2022
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelinesEleni Mavraki, Robyn Labrum, Kate Sergeant, et al.
European Journal of Neurology|September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataractsAndrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 10, 2024
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, et al.
Brain : a Journal of Neurology|February 17, 2023
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general populationMatteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, et al.
NPJ Parkinson'S Disease|October 17, 2024
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's diseaseClodagh Towns, Zih-Hua Fang, Manuela M X Tan, et al.
Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Neuromuscular Disorders : NMD|April 10, 2012
X inactivation in females with X-linked Charcot-Marie-Tooth diseaseSinéad M Murphy, Richard Ovens, James Polke, et al.
Neurology|March 12, 2017
Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMTPedro J Tomaselli, Alexander M Rossor, Alejandro Horga, et al.
Genes|February 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture KitsClarissa Rocca, David Murphy, Chris Clarkson, et al.
European Journal of Human Genetics : EJHG|December 13, 2022
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelinesEleni Mavraki, Robyn Labrum, Kate Sergeant, et al.
European Journal of Neurology|September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataractsAndrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 10, 2024
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, et al.
Brain : a Journal of Neurology|February 17, 2023
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general populationMatteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, et al.
NPJ Parkinson'S Disease|October 17, 2024
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's diseaseClodagh Towns, Zih-Hua Fang, Manuela M X Tan, et al.
Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
Pageof 3