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Mary M Reilly

Showing results (151-160 of 363) with videos related to

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Brain : a Journal of Neurology|April 12, 2012
MFN2 mutations cause compensatory mitochondrial DNA proliferationKamil S Sitarz, Patrick Yu-Wai-Man, Angela Pyle, et al.
Journal of the Peripheral Nervous System : JPNS|January 14, 2015
A pilot study of proximal strength training in Charcot-Marie-Tooth diseaseGita M Ramdharry, Alexander Pollard, Cheryl Anderson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2013
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2Michael Gonzalez, Heather McLaughlin, Henry Houlden, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 11, 2017
Peripheral neuropathy in complex inherited diseases: an approach to diagnosisAlexander M Rossor, Aisling S Carr, Helen Devine, 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.
Journal of the Peripheral Nervous System : JPNS|June 28, 2012
BAG3 mutations: another cause of giant axonal neuropathyFatima Jaffer, Sinéad M Murphy, Mariacristina Scoto, 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 Neurology|July 22, 2015
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathiesAlejandro Horga, Ellen Cottenie, Pedro J Tomaselli, 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.
Annals of Neurology|November 22, 2020
Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome MeasureSindhu Ramchandren, Tong Tong Wu, Richard S Finkel, et al.
Pageof 37

Showing results (151-160 of 363) with videos related to

Sort By:
Pageof 37
Brain : a Journal of Neurology|April 12, 2012
MFN2 mutations cause compensatory mitochondrial DNA proliferationKamil S Sitarz, Patrick Yu-Wai-Man, Angela Pyle, et al.
Journal of the Peripheral Nervous System : JPNS|January 14, 2015
A pilot study of proximal strength training in Charcot-Marie-Tooth diseaseGita M Ramdharry, Alexander Pollard, Cheryl Anderson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2013
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2Michael Gonzalez, Heather McLaughlin, Henry Houlden, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 11, 2017
Peripheral neuropathy in complex inherited diseases: an approach to diagnosisAlexander M Rossor, Aisling S Carr, Helen Devine, 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.
Journal of the Peripheral Nervous System : JPNS|June 28, 2012
BAG3 mutations: another cause of giant axonal neuropathyFatima Jaffer, Sinéad M Murphy, Mariacristina Scoto, 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 Neurology|July 22, 2015
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathiesAlejandro Horga, Ellen Cottenie, Pedro J Tomaselli, 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.
Annals of Neurology|November 22, 2020
Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome MeasureSindhu Ramchandren, Tong Tong Wu, Richard S Finkel, et al.
Pageof 37