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Ami Mankodi

Showing results (31-40 of 39) with videos related to

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Journal of Neurology|March 5, 2015
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiencyChristopher Grunseich, Alice B Schindler, Ke-Lian Chen, et al.
Neuromuscular Disorders : NMD|September 4, 2014
Atypical presentation of GNE myopathy with asymmetric hand weaknessJohn Karl L de Dios, Joseph A Shrader, Galen O Joe, et al.
Frontiers in Neurology|March 21, 2018
Novel Variants in Individuals with <i>RYR1</i>-Related Congenital Myopathies: Genetic, Laboratory, and Clinical FindingsJoshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 9, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseasesChristopher Grunseich, Nathan Sarkar, Joyce Lu, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.
Acta Neuropathologica|April 3, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathiesAlexander Kushnir, Joshua J Todd, Jessica W Witherspoon, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
Neurology. Clinical Practice|December 28, 2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Journal of Neurology|March 5, 2015
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiencyChristopher Grunseich, Alice B Schindler, Ke-Lian Chen, et al.
Neuromuscular Disorders : NMD|September 4, 2014
Atypical presentation of GNE myopathy with asymmetric hand weaknessJohn Karl L de Dios, Joseph A Shrader, Galen O Joe, et al.
Frontiers in Neurology|March 21, 2018
Novel Variants in Individuals with <i>RYR1</i>-Related Congenital Myopathies: Genetic, Laboratory, and Clinical FindingsJoshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 9, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseasesChristopher Grunseich, Nathan Sarkar, Joyce Lu, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.
Acta Neuropathologica|April 3, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathiesAlexander Kushnir, Joshua J Todd, Jessica W Witherspoon, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
Neurology. Clinical Practice|December 28, 2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, et al.
Pageof 4