central core myopathy Latest Research Papers

Central Core Myopathy

Journal of Neuro-Ophthalmology ◽

10.1097/wno.0000000000001445 ◽

2021 ◽

Vol Publish Ahead of Print ◽

Author(s):

Jamie A. Keen ◽

Robert A. Beaulieu ◽

Evan H. Black

Keyword(s):

Central Core ◽

Central Core Myopathy ◽

Core Myopathy

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Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy

Journal of Clinical Neuromuscular Disease ◽

10.1097/cnd.0000000000000177 ◽

2018 ◽

Vol 19 (3) ◽

pp. 142-143

Author(s):

Razia K. Adam ◽

Ananthanarayanan Kasinathan ◽

Naveen Sankhyan ◽

Pratibha Singhi

Keyword(s):

Central Core ◽

Muscle Involvement ◽

Indian Family ◽

Central Core Myopathy ◽

Core Myopathy

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Congenital Central Core Myopathy with Malignant Hyperthermia

Genetic Neuromuscular Disorders ◽

10.1007/978-3-319-56454-8_37 ◽

2017 ◽

pp. 145-147

Author(s):

Corrado Angelini

Keyword(s):

Malignant Hyperthermia ◽

Central Core ◽

Central Core Myopathy ◽

Core Myopathy

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Central core myopathy with autophagy

Muscle & Nerve ◽

10.1002/mus.25594 ◽

2017 ◽

Vol 56 (2) ◽

pp. E8-E9

Author(s):

Ana Cotta ◽

Julia F. Paim ◽

Rita De C. M. Pavanello ◽

Leticia Nogueira ◽

Leonardo G. Leão ◽

...

Keyword(s):

Central Core ◽

Central Core Myopathy ◽

Core Myopathy

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Central Core Myopathy with Mutation of the RYR1 Gene in Combination with Mutation of the COL6A2 Gene and Severe Infantile Myoclonic Epilepsy

Neuropediatrics ◽

10.1055/s-0034-1390663 ◽

2014 ◽

Vol 45 (S 01) ◽

Author(s):

T. Weisbrod ◽

R. Keimer ◽

S. Biskup ◽

A. Bornemann ◽

J. Riedel

Keyword(s):

Myoclonic Epilepsy ◽

Central Core ◽

Ryr1 Gene ◽

Central Core Myopathy ◽

Core Myopathy

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Congenital Central Core Myopathy with Malignant Hyperthermia

Genetic Neuromuscular Disorders ◽

10.1007/978-3-319-07500-6_27 ◽

2014 ◽

pp. 121-123

Author(s):

Corrado Angelini

Keyword(s):

Malignant Hyperthermia ◽

Central Core ◽

Central Core Myopathy ◽

Core Myopathy

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Poster 449 Ketotic Hypoglycemia in RYR-1 Central Core Myopathy: A Case Report

PM&R ◽

10.1016/j.pmrj.2012.09.1057 ◽

2012 ◽

Vol 4 ◽

pp. S344-S344

Author(s):

Robert Trotter ◽

James Dowling ◽

Joseph E. Hornyak

Keyword(s):

Case Report ◽

Central Core ◽

Ketotic Hypoglycemia ◽

Central Core Myopathy ◽

Core Myopathy

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A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility

Journal of Clinical Neuroscience ◽

10.1016/j.jocn.2011.05.010 ◽

2012 ◽

Vol 19 (1) ◽

pp. 65-70 ◽

Cited By ~ 6

Author(s):

A. Taylor ◽

K. Lachlan ◽

R.M. Manners ◽

A.J. Lotery

Keyword(s):

Skeletal Muscle ◽

Malignant Hyperthermia ◽

Central Core ◽

Malignant Hyperthermia Susceptibility ◽

Central Core Myopathy ◽

Core Myopathy

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Central core myopathy with RYR1 mutation masks 5q Spinal Muscular Atrophy

European Journal of Paediatric Neurology ◽

10.1016/j.ejpn.2010.04.003 ◽

2011 ◽

Vol 15 (1) ◽

pp. 70-73 ◽

Cited By ~ 6

Author(s):

R. Pandey ◽

S. Chandratre ◽

A. Roberts ◽

J.S.M. Dwyer ◽

C. Sewry ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Central Core ◽

Central Core Myopathy ◽

Core Myopathy

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C.P.4.14 Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2007.06.404 ◽

2007 ◽

Vol 17 (9-10) ◽

pp. 882-883 ◽

Cited By ~ 1

Author(s):

R. Quinlivan ◽

C. Sewry ◽

C. Muller

Keyword(s):

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Central Core ◽

Central Core Myopathy ◽

Core Myopathy

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central core myopathy
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