182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 22, Issue 5, 2012, Pages 453-462

  Jungbluth, Heinz ^a,b   Dowling, James J ^c   Ferreiro, Ana ^d,e   Muntoni, Francesco ^f  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; AMPHIPHYSIN 2; CALCIUM ION; CALSEQUESTRIN; CARNITINE; CARRIER PROTEINS AND BINDING PROTEINS; CAVEOLIN; CLENBUTEROL; CREATINE; DANTROLENE; DILTIAZEM; DYNAMIN II; JP 45 PROTEIN; JUNCTATE; JUNCTOPHILIN; MEMBRANE PROTEIN; MITSUGUMIN; MTMR14 PROTEIN; MYOTUBULARIN; REACTIVE NITROGEN SPECIES; RYANODINE RECEPTOR; RYANODINE RECEPTOR 1; SALBUTAMOL; SRP27 PROTEIN; TRIADIN; UNCLASSIFIED DRUG;

ABSENCE OF SIDE EFFECTS; ALTERNATIVE RNA SPLICING; ARTICLE; BIN1 GENE; BRAIN MITOCHONDRION; CALCIUM HOMEOSTASIS; CALCIUM OVERLOADING; CALCIUM TRANSPORT; CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CONGENITAL FIBRE TYPE DISPROPORTION; CYCLING; DEVELOPMENTAL GENE; DNM2 GENE; DRUG ACTIVITY; DRUG WITHDRAWAL; EXCITATION CONTRACTION COUPLING; EXCITATION COUPLED CALCIUM ENTRY; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENOTYPE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; IN VITRO STUDY; INTOXICATION; KING DENBOROUGH SYNDROME; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MTM1 GENE; MTMR14 GENE; MULTIMINICORE DISEASE; MUSCLE EXERCISE; MUSCLE STRENGTH; MYOPATHY; NETHERLANDS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; OXIDATIVE PHOSPHORYLATION; OXIDATIVE STRESS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RYR1 GENE; SEPN1 GENE; WALKING; WORKSHOP;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; NETHERLANDS; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84859650685     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.12.003     Document Type: Article

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