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Julian Blake

Showing results (11-20 of 46) with videos related to

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Journal of the Peripheral Nervous System : JPNS|March 2, 2016
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counsellingPedro J Tomaselli, Alexander M Rossor, James M Polke, et al.
Brain : a Journal of Neurology|November 14, 2002
Clinical and genetic characterization of families with triple A (Allgrove) syndromeHenry Houlden, Stephen Smith, Mamede De Carvalho, 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.
European Journal of Neurology|February 27, 2024
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1APedro José Tomaselli, Julian Blake, James M Polke, et al.
Neuromuscular Disorders : NMD|March 11, 2009
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathyHenry Houlden, Matilde Laura, Lionel Ginsberg, 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.
Journal of the Peripheral Nervous System : JPNS|April 14, 2022
Unusual upper limb features in SORD neuropathyChristopher J Record, Menelaos Pipis, Julian Blake, et al.
Neuromuscular Disorders : NMD|November 7, 2016
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 geneAlexander M Rossor, Jasper M Morrow, James M Polke, et al.
Journal of the Peripheral Nervous System : JPNS|January 5, 2011
Bortezomib-induced inflammatory neuropathyTabish A Saifee, Kathryn J Elliott, Neil Rabin, et al.
Muscle & Nerve|June 8, 2013
Asymmetric sensory ganglionopathy: a case seriesCeledonio Marquez-Infante, Sinéad M Murphy, Liberty Mathew, et al.
Pageof 5

Showing results (11-20 of 46) with videos related to

Sort By:
Pageof 5
Journal of the Peripheral Nervous System : JPNS|March 2, 2016
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counsellingPedro J Tomaselli, Alexander M Rossor, James M Polke, et al.
Brain : a Journal of Neurology|November 14, 2002
Clinical and genetic characterization of families with triple A (Allgrove) syndromeHenry Houlden, Stephen Smith, Mamede De Carvalho, 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.
European Journal of Neurology|February 27, 2024
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1APedro José Tomaselli, Julian Blake, James M Polke, et al.
Neuromuscular Disorders : NMD|March 11, 2009
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathyHenry Houlden, Matilde Laura, Lionel Ginsberg, 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.
Journal of the Peripheral Nervous System : JPNS|April 14, 2022
Unusual upper limb features in SORD neuropathyChristopher J Record, Menelaos Pipis, Julian Blake, et al.
Neuromuscular Disorders : NMD|November 7, 2016
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 geneAlexander M Rossor, Jasper M Morrow, James M Polke, et al.
Journal of the Peripheral Nervous System : JPNS|January 5, 2011
Bortezomib-induced inflammatory neuropathyTabish A Saifee, Kathryn J Elliott, Neil Rabin, et al.
Muscle & Nerve|June 8, 2013
Asymmetric sensory ganglionopathy: a case seriesCeledonio Marquez-Infante, Sinéad M Murphy, Liberty Mathew, et al.
Pageof 5