Pages that link to "Q44075701"
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The following pages link to Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. (Q44075701):
Displaying 60 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)
- Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing (Q58036212) (← links)
- 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies (Q60920262) (← links)
- Central core disease (Q64047932) (← links)
- The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations (Q64267769) (← links)
- Gene table: congenital myopathies (Q73658107) (← links)
- Congenital myopathies (Q75190355) (← links)
- Congenital myopathies (Q82029849) (← links)
- Malignant hyperthermia and associated conditions (Q82029869) (← links)
- Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy (Q89630438) (← links)
- Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? (Q90356113) (← links)