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Cheryl Longman

Showing results (41-50 of 57) with videos related to

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Plos One|March 22, 2017
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up studyMark J Hamilton, Yvonne Robb, Sarah Cumming, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 4, 2014
Two recurrent mutations are associated with GNE myopathy in the North of BritainAmina Chaouch, Kathryn M Brennan, Judith Hudson, et al.
Brain : a Journal of Neurology|January 5, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophiesSebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Nature Genetics|December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
American Journal of Human Genetics|August 16, 2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyAnne Guimier, Christopher T Gordon, François Godard, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
Plos One|March 22, 2017
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up studyMark J Hamilton, Yvonne Robb, Sarah Cumming, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 4, 2014
Two recurrent mutations are associated with GNE myopathy in the North of BritainAmina Chaouch, Kathryn M Brennan, Judith Hudson, et al.
Brain : a Journal of Neurology|January 5, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophiesSebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Nature Genetics|December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
American Journal of Human Genetics|August 16, 2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyAnne Guimier, Christopher T Gordon, François Godard, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Pageof 6