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UnknownCorrelative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin.
Not available
S-EPMC6593877 | biostudies-literature
UnknownThe role of the M-band myomesin proteins in muscle integrity and cardiac disease.
Not available
S-EPMC8900313 | biostudies-literature
UnknownIn vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant.
Not available
S-EPMC8195286 | biostudies-literature
UnknownInter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.
Not available
S-EPMC7404392 | biostudies-literature
UnknownAsymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
Not available
S-EPMC4970673 | biostudies-literature
UnknownMutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
Not available
S-EPMC419991 | biostudies-literature
UnknownA SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.
Not available
S-EPMC7970841 | biostudies-literature
UnknownNew FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Not available
S-EPMC2244647 | biostudies-literature
UnknownMutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Not available
S-EPMC1235559 | biostudies-literature
UnknownIncreased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
Not available
S-EPMC3152547 | biostudies-literature
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