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Mary M Reilly

Showing results (191-200 of 364) with videos related to

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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.
Neuromuscular Disorders : NMD|July 30, 2021
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicityKaren Baty, Maria E Farrugia, Sila Hopton, et al.
Neurology. Genetics|July 14, 2017
Homozygous mutation in <i>HSPB1</i> causing distal vacuolar myopathy and motor neuropathyEnrico Bugiardini, Alexander M Rossor, David S Lynch, et al.
Journal of the Peripheral Nervous System : JPNS|May 11, 2023
Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 yearsTong Tong Wu, Richard S Finkel, Carly E Siskind, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|April 25, 2025
Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapyLaura Sander, Giacomo Chiaro, Domenico Abelardo, et al.
Neurology|April 19, 2013
Cerebellar learning distinguishes inflammatory neuropathy with and without tremorPetra Schwingenschuh, Tabish A Saifee, Petra Katschnig-Winter, et al.
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|March 15, 2018
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-SaguenayMichael H Parkinson, Ana P Bartmann, Lisa M S Clayton, et al.
Practical Neurology|January 25, 2018
A diagnostic conundrumStephen Keddie, Zane Jaunmuktane, Sebastian Brandner, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 13, 2013
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationYo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, et al.
Pageof 37

Showing results (191-200 of 364) with videos related to

Sort By:
Pageof 37
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.
Neuromuscular Disorders : NMD|July 30, 2021
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicityKaren Baty, Maria E Farrugia, Sila Hopton, et al.
Neurology. Genetics|July 14, 2017
Homozygous mutation in <i>HSPB1</i> causing distal vacuolar myopathy and motor neuropathyEnrico Bugiardini, Alexander M Rossor, David S Lynch, et al.
Journal of the Peripheral Nervous System : JPNS|May 11, 2023
Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 yearsTong Tong Wu, Richard S Finkel, Carly E Siskind, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|April 25, 2025
Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapyLaura Sander, Giacomo Chiaro, Domenico Abelardo, et al.
Neurology|April 19, 2013
Cerebellar learning distinguishes inflammatory neuropathy with and without tremorPetra Schwingenschuh, Tabish A Saifee, Petra Katschnig-Winter, et al.
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|March 15, 2018
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-SaguenayMichael H Parkinson, Ana P Bartmann, Lisa M S Clayton, et al.
Practical Neurology|January 25, 2018
A diagnostic conundrumStephen Keddie, Zane Jaunmuktane, Sebastian Brandner, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 13, 2013
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationYo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, et al.
Pageof 37