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James Polke

Showing results (1-10 of 28) with videos related to

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Practical Neurology|May 11, 2021
Whole-genome sequencingHuw R Morris, Henry Houlden, James Polke
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 27, 2024
'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'Dean Spencer, James Polke, Joanna Campbell, et al.
Neurobiology of Aging|March 27, 2012
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patientsKin Y Mok, Georgios Koutsis, Lucia V Schottlaender, et al.
Neuromuscular Disorders : NMD|January 25, 2011
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutationSinéad M Murphy, Matilde Laurá, Julian Blake, et al.
Journal of the Peripheral Nervous System : JPNS|June 23, 2011
Phenotype expression in women with CMT1XCarly E Siskind, Sinéad M Murphy, Richard Ovens, et al.
Practical Neurology|September 30, 2024
Repeat expansion disordersZhongbo Chen, Huw R Morris, James Polke, et al.
Journal of the Peripheral Nervous System : JPNS|April 21, 2011
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth diseaseSinéad M Murphy, James Polke, Hadi Manji, et al.
Neuromuscular Disorders : NMD|August 2, 2025
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathyValentine Perrain, Christopher J Record, Mariola Skorupinska, et al.
Neurology|May 10, 2013
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2Sinéad M Murphy, Daniela Ernst, Yu Wei, et al.
Journal of the Peripheral Nervous System : JPNS|December 22, 2023
Digenic FLNA and UCHL1 variants resulting in a complex phenotypeHelena F Pernice, Luke F O'Donnell, Alexander M Rossor, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
Practical Neurology|May 11, 2021
Whole-genome sequencingHuw R Morris, Henry Houlden, James Polke
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 27, 2024
'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'Dean Spencer, James Polke, Joanna Campbell, et al.
Neurobiology of Aging|March 27, 2012
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patientsKin Y Mok, Georgios Koutsis, Lucia V Schottlaender, et al.
Neuromuscular Disorders : NMD|January 25, 2011
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutationSinéad M Murphy, Matilde Laurá, Julian Blake, et al.
Journal of the Peripheral Nervous System : JPNS|June 23, 2011
Phenotype expression in women with CMT1XCarly E Siskind, Sinéad M Murphy, Richard Ovens, et al.
Practical Neurology|September 30, 2024
Repeat expansion disordersZhongbo Chen, Huw R Morris, James Polke, et al.
Journal of the Peripheral Nervous System : JPNS|April 21, 2011
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth diseaseSinéad M Murphy, James Polke, Hadi Manji, et al.
Neuromuscular Disorders : NMD|August 2, 2025
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathyValentine Perrain, Christopher J Record, Mariola Skorupinska, et al.
Neurology|May 10, 2013
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2Sinéad M Murphy, Daniela Ernst, Yu Wei, et al.
Journal of the Peripheral Nervous System : JPNS|December 22, 2023
Digenic FLNA and UCHL1 variants resulting in a complex phenotypeHelena F Pernice, Luke F O'Donnell, Alexander M Rossor, et al.
Pageof 3