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A Reghan Foley

Showing results (51-60 of 114) with videos related to

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Neuromuscular Disorders : NMD|April 19, 2017
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rodsSandra Donkervoort, Sophelia H S Chan, Leslie H Hayes, et al.
Brain : a Journal of Neurology|November 26, 2013
Natural history of pulmonary function in collagen VI-related myopathiesA Reghan Foley, Susana Quijano-Roy, James Collins, et al.
Human Molecular Genetics|April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eyeYaqun Zou, Sandra Donkervoort, Antti M Salo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosisMaike F Dohrn, Danique Beijer, Museer A Lone, et al.
The New England Journal of Medicine|September 23, 2016
The Role of PIEZO2 in Human MechanosensationAlexander T Chesler, Marcin Szczot, Diana Bharucha-Goebel, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|December 28, 2018
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophyPayam Mohassel, Océane Landon-Cardinal, A Reghan Foley, et al.
Nature Communications|January 29, 2021
Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humansLaura K Case, Jaquette Liljencrantz, Nicholas Madian, et al.
Acta Neuropathologica|February 1, 2019
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)Xavière Lornage, Norma B Romero, Claire A Grosgogeat, et al.
Annals of Clinical and Translational Neurology|July 24, 2023
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathyPayam Mohassel, Pomi Yun, Safoora Syeda, et al.
Annals of Clinical and Translational Neurology|September 12, 2019
Dominant collagen XII mutations cause a distal myopathyPayam Mohassel, Teerin Liewluck, Ying Hu, et al.
Pageof 12

Showing results (51-60 of 114) with videos related to

Sort By:
Pageof 12
Neuromuscular Disorders : NMD|April 19, 2017
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rodsSandra Donkervoort, Sophelia H S Chan, Leslie H Hayes, et al.
Brain : a Journal of Neurology|November 26, 2013
Natural history of pulmonary function in collagen VI-related myopathiesA Reghan Foley, Susana Quijano-Roy, James Collins, et al.
Human Molecular Genetics|April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eyeYaqun Zou, Sandra Donkervoort, Antti M Salo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosisMaike F Dohrn, Danique Beijer, Museer A Lone, et al.
The New England Journal of Medicine|September 23, 2016
The Role of PIEZO2 in Human MechanosensationAlexander T Chesler, Marcin Szczot, Diana Bharucha-Goebel, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|December 28, 2018
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophyPayam Mohassel, Océane Landon-Cardinal, A Reghan Foley, et al.
Nature Communications|January 29, 2021
Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humansLaura K Case, Jaquette Liljencrantz, Nicholas Madian, et al.
Acta Neuropathologica|February 1, 2019
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)Xavière Lornage, Norma B Romero, Claire A Grosgogeat, et al.
Annals of Clinical and Translational Neurology|July 24, 2023
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathyPayam Mohassel, Pomi Yun, Safoora Syeda, et al.
Annals of Clinical and Translational Neurology|September 12, 2019
Dominant collagen XII mutations cause a distal myopathyPayam Mohassel, Teerin Liewluck, Ying Hu, et al.
Pageof 12