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Case Reports in Genetics
|
November 6, 2019
Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His <i>VCP</i> Mutation
Nivedita U Jerath
Case Reports in Medicine
|
June 3, 2022
Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
Nivedita U Jerath
Biochimica Et Biophysica Acta
|
August 10, 2014
Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies
Nivedita U Jerath, Michael E Shy
Journal of Neuromuscular Diseases
|
December 28, 2017
Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q)
Nivedita U Jerath, Michael E Shy
Muscle & Nerve
|
February 7, 2017
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation
Nivedita U Jerath, Michael E Shy
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society
|
September 16, 2017
Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score
Nivedita U Jerath, Michael E Shy
Case Reports in Genetics
|
January 25, 2019
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
Kwo Wei David Ho, Nivedita U Jerath
Case Reports in Genetics
|
November 14, 2018
V144D Mutation of <i>SPTLC1</i> Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
Kwo Wei David Ho, Nivedita U Jerath
Case Reports in Genetics
|
November 7, 2015
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
Nivedita U Jerath, Tiffany Grider, Michael E Shy
Journal of Clinical Neuromuscular Disease
|
August 23, 2023
Two Cases of Periodic Paralysis Associated With MCM3AP Variants
Tatsuya Oishi, Jennifer Pagano, Cody Sellers, et al.
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Search research articles
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Showing results (1-10 of 27) with videos related to
Sort By:
Page
of 3
Case Reports in Genetics
|
November 6, 2019
Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His <i>VCP</i> Mutation
Nivedita U Jerath
Case Reports in Medicine
|
June 3, 2022
Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
Nivedita U Jerath
Biochimica Et Biophysica Acta
|
August 10, 2014
Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies
Nivedita U Jerath, Michael E Shy
Journal of Neuromuscular Diseases
|
December 28, 2017
Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q)
Nivedita U Jerath, Michael E Shy
Muscle & Nerve
|
February 7, 2017
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation
Nivedita U Jerath, Michael E Shy
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society
|
September 16, 2017
Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score
Nivedita U Jerath, Michael E Shy
Case Reports in Genetics
|
January 25, 2019
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
Kwo Wei David Ho, Nivedita U Jerath
Case Reports in Genetics
|
November 14, 2018
V144D Mutation of <i>SPTLC1</i> Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
Kwo Wei David Ho, Nivedita U Jerath
Case Reports in Genetics
|
November 7, 2015
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
Nivedita U Jerath, Tiffany Grider, Michael E Shy
Journal of Clinical Neuromuscular Disease
|
August 23, 2023
Two Cases of Periodic Paralysis Associated With MCM3AP Variants
Tatsuya Oishi, Jennifer Pagano, Cody Sellers, et al.
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of 3