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Julian Blake

Showing results (21-30 of 46) with videos related to

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Muscle & Nerve|January 8, 2014
Pain and small fiber function in Charcot-Marie-Tooth disease type 1AMatilde Laurà, Elspeth J Hutton, Julian Blake, et al.
Journal of the Peripheral Nervous System : JPNS|June 28, 2012
A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2Alexander M Rossor, Gabrielle L Davidson, Julian Blake, 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.
Journal of the Peripheral Nervous System : JPNS|May 27, 2025
A Case Series of Unilateral Peripheral NeuropathyCaroline Kramarz, Marion Masingue, Françoise Bouhour, et al.
Genomics|August 22, 2006
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathologySahar Al-Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 22, 2022
Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathyLuke Francis O'Donnell, Andrea Cortese, Alexander M Rossor, et al.
Archives of Neurology|June 15, 2011
Neuropathy in a human without the PMP22 geneMario Andre Saporta, Istvan Katona, Xuebao Zhang, et al.
Practical Neurology|May 9, 2022
Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes diseaseAntonia S Carroll, Carolynne M Doherty, Julian Blake, et al.
Neuromolecular Medicine|January 9, 2015
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificityDaniela Ernst, Sinéad M Murphy, Karthik Sathiyanadan, et al.
Pageof 5

Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
Muscle & Nerve|January 8, 2014
Pain and small fiber function in Charcot-Marie-Tooth disease type 1AMatilde Laurà, Elspeth J Hutton, Julian Blake, et al.
Journal of the Peripheral Nervous System : JPNS|June 28, 2012
A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2Alexander M Rossor, Gabrielle L Davidson, Julian Blake, 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.
Journal of the Peripheral Nervous System : JPNS|May 27, 2025
A Case Series of Unilateral Peripheral NeuropathyCaroline Kramarz, Marion Masingue, Françoise Bouhour, et al.
Genomics|August 22, 2006
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathologySahar Al-Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 22, 2022
Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathyLuke Francis O'Donnell, Andrea Cortese, Alexander M Rossor, et al.
Archives of Neurology|June 15, 2011
Neuropathy in a human without the PMP22 geneMario Andre Saporta, Istvan Katona, Xuebao Zhang, et al.
Practical Neurology|May 9, 2022
Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes diseaseAntonia S Carroll, Carolynne M Doherty, Julian Blake, et al.
Neuromolecular Medicine|January 9, 2015
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificityDaniela Ernst, Sinéad M Murphy, Karthik Sathiyanadan, et al.
Pageof 5