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James Collins

Showing results (131-140 of 140) with videos related to

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JAMA Neurology|May 5, 2015
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyKristen Zukosky, Katherine Meilleur, Bryan J Traynor, et al.
Neuromuscular Disorders : NMD|January 15, 2017
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophyRoxanna M Bendixen, Jocelyn Butrum, Mina S Jain, et al.
British Journal of Sports Medicine|October 24, 2020
UEFA expert group statement on nutrition in elite football. Current evidence to inform practical recommendations and guide future researchJames Collins, Ronald John Maughan, Michael Gleeson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
British Journal of Sports Medicine|October 24, 2020
Infographic. UEFA expert group 2020 statement on nutrition in elite footballJames Collins, Ronald John Maughan, Mike Gleeson, 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.
Neuromuscular Disorders : NMD|August 19, 2017
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patientsOsorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Pageof 14

Showing results (131-140 of 140) with videos related to

Sort By:
Pageof 14
You have reached the last page of results.This site can display upto 140 results.
JAMA Neurology|May 5, 2015
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyKristen Zukosky, Katherine Meilleur, Bryan J Traynor, et al.
Neuromuscular Disorders : NMD|January 15, 2017
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophyRoxanna M Bendixen, Jocelyn Butrum, Mina S Jain, et al.
British Journal of Sports Medicine|October 24, 2020
UEFA expert group statement on nutrition in elite football. Current evidence to inform practical recommendations and guide future researchJames Collins, Ronald John Maughan, Michael Gleeson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
British Journal of Sports Medicine|October 24, 2020
Infographic. UEFA expert group 2020 statement on nutrition in elite footballJames Collins, Ronald John Maughan, Mike Gleeson, 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.
Neuromuscular Disorders : NMD|August 19, 2017
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patientsOsorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Pageof 14