Pages that link to "Q44075701"

The following pages link to Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. (Q44075701):

Displaying 50 items.

• Central core disease (Q21202972) ‎ (← links)
• Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies (Q24338775) ‎ (← links)
• Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies (Q24617292) ‎ (← links)
• Congenital myopathies: an update (Q26824526) ‎ (← links)
• Calcium Dyshomeostasis in Tubular Aggregate Myopathy (Q28078298) ‎ (← links)
• Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility (Q29871451) ‎ (← links)
• Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. (Q34187680) ‎ (← links)
• An exome sequencing strategy to diagnose lethal autosomal recessive disorders (Q34380805) ‎ (← links)
• What's new in neuromuscular disorders? The congenital myopathies (Q35077032) ‎ (← links)
• Endoplasmic reticulum Ca(2+) handling in excitable cells in health and disease (Q35122788) ‎ (← links)
• Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies (Q35209452) ‎ (← links)
• The utility of muscle biopsy (Q35610783) ‎ (← links)
• Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. (Q36216295) ‎ (← links)
• Mutations in RYR1 in malignant hyperthermia and central core disease (Q36569488) ‎ (← links)
• Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease (Q36586052) ‎ (← links)
• Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (Q36615476) ‎ (← links)
• Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States (Q36786555) ‎ (← links)
• Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum (Q36870145) ‎ (← links)
• Multi-minicore Disease (Q36881612) ‎ (← links)
• Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy. (Q37035750) ‎ (← links)
• Genotype-phenotype correlations in recessive RYR1-related myopathies (Q37114746) ‎ (← links)
• Pathological defects in congenital myopathies (Q37359970) ‎ (← links)
• Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies. (Q37394678) ‎ (← links)
• Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study (Q37497206) ‎ (← links)
• The collagen VI-related myopathies: muscle meets its matrix (Q37555710) ‎ (← links)
• Consensus statement on standard of care for congenital myopathies (Q37585735) ‎ (← links)
• Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. (Q37589625) ‎ (← links)
• Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. (Q37889772) ‎ (← links)
• Genetics of neuromuscular disorders (Q37999075) ‎ (← links)
• Themes and variations in ER/SR calcium release channels: structure and function (Q38065938) ‎ (← links)
• Core myopathies and malignant hyperthermia susceptibility: a review (Q38101594) ‎ (← links)
• The neuromuscular differential diagnosis of joint hypermobility (Q38395355) ‎ (← links)
• Myopathology in times of modern imaging (Q38767197) ‎ (← links)
• Prenatal diagnosis of congenital myopathies and muscular dystrophies. (Q38838661) ‎ (← links)
• RYR1-related myopathies: a wide spectrum of phenotypes throughout life (Q39008908) ‎ (← links)
• Myopathology in congenital myopathies (Q39038887) ‎ (← links)
• Clinical utility gene card for: Multi-minicore disease. (Q40492542) ‎ (← links)
• Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia (Q41781551) ‎ (← links)
• Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes (Q41996021) ‎ (← links)
• Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization (Q42681353) ‎ (← links)
• Familial RYR 1 mutation associated with mild and severe central core disease (Q42931983) ‎ (← links)
• The spectrum of pathology in central core disease (Q44239689) ‎ (← links)
• Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex (Q44990071) ‎ (← links)
• Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population (Q46051563) ‎ (← links)
• Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. (Q46769258) ‎ (← links)
• RYR1 causing distal myopathy (Q47117914) ‎ (← links)
• Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction (Q49388884) ‎ (← links)
• RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. (Q52639740) ‎ (← links)
• Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. (Q54116685) ‎ (← links)
• Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies (Q57334263) ‎ (← links)