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Julian Blake

Showing results (31-40 of 46) with videos related to

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Brain : a Journal of Neurology|December 21, 2005
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)Henry Houlden, Rosalind King, Julian Blake, et al.
Brain : a Journal of Neurology|June 20, 2023
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1Menelaos Pipis, Seongsik Won, Roy Poh, et al.
Journal of the Peripheral Nervous System : JPNS|June 27, 2015
MFN2 deletion of exons 7 and 8: founder mutation in the UK populationAisling S Carr, James M Polke, Jacob Wilson, et al.
Brain : a Journal of Neurology|March 14, 2024
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth diseaseChristopher J Record, Menelaos Pipis, Mariola Skorupinska, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 6, 2011
Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromesSinéad M Murphy, Usman Khan, Constantine Alifrangis, et al.
Neurobiology of Disease|February 10, 2011
Ndrg1 in development and maintenance of the myelin sheathRosalind H M King, David Chandler, Sash Lopaticki, 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.
Journal of Neurology, Neurosurgery, and Psychiatry|September 14, 2021
Charcot-Marie-Tooth disease type 2CC due to <i>NEFH</i> variants causes a progressive, non-length-dependent, motor-predominant phenotypeMenelaos Pipis, Andrea Cortese, James M Polke, et al.
American Journal of Human Genetics|April 5, 2016
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyAdriana P Rebelo, Alexander J Abrams, Ellen Cottenie, et al.
JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
Brain : a Journal of Neurology|December 21, 2005
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)Henry Houlden, Rosalind King, Julian Blake, et al.
Brain : a Journal of Neurology|June 20, 2023
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1Menelaos Pipis, Seongsik Won, Roy Poh, et al.
Journal of the Peripheral Nervous System : JPNS|June 27, 2015
MFN2 deletion of exons 7 and 8: founder mutation in the UK populationAisling S Carr, James M Polke, Jacob Wilson, et al.
Brain : a Journal of Neurology|March 14, 2024
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth diseaseChristopher J Record, Menelaos Pipis, Mariola Skorupinska, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 6, 2011
Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromesSinéad M Murphy, Usman Khan, Constantine Alifrangis, et al.
Neurobiology of Disease|February 10, 2011
Ndrg1 in development and maintenance of the myelin sheathRosalind H M King, David Chandler, Sash Lopaticki, 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.
Journal of Neurology, Neurosurgery, and Psychiatry|September 14, 2021
Charcot-Marie-Tooth disease type 2CC due to <i>NEFH</i> variants causes a progressive, non-length-dependent, motor-predominant phenotypeMenelaos Pipis, Andrea Cortese, James M Polke, et al.
American Journal of Human Genetics|April 5, 2016
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyAdriana P Rebelo, Alexander J Abrams, Ellen Cottenie, et al.
JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Pageof 5