about
Central core diseaseCentral core disease: clinical, pathological, and genetic featuresCritical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseCongenital myopathies: an updatePharmGKB summary: very important pharmacogene information for RYR1Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structureCharacterization and temporal development of cores in a mouse model of malignant hyperthermiaSilent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportMild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal RegionAdolescent idiopathic scoliosis without limb weakness: a differential diagnosis of core myopathy?Identification of CAP as a costameric protein that interacts with filamin C.Inherited myopathy of great Danes.Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.HSPB7 interacts with dimerized FLNC and its absence results in progressive myopathy in skeletal muscles.Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.Multi-minicore DiseaseVariable myopathic presentation in a single family with novel skeletal RYR1 mutation.MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathyCa2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsDominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.Genetics of neuromuscular disorders.Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.Themes and variations in ER/SR calcium release channels: structure and function.Ryanodine receptor calcium release channels: lessons from structure-function studies.Myopathology in congenital myopathies.Clinical utility gene card for: Central core disease.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.Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.Congenital myopathies: clinical phenotypes and new diagnostic tools.C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.Physiology and pathophysiology of excitation-contraction coupling: the functional role of ryanodine receptor.Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.Undetected central core disease myopathy in an infant presenting for clubfoot surgery.Ryanodine Receptor Structure and Function in Health and Disease.Central core disease: atypical case with respiratory insufficiency in an intensive care unit.Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
P2860
Q21202972-7BD8D370-0A26-4A3B-8C03-D4E5BCBBB9DAQ24675329-A267C469-5535-42ED-B8E4-E7A9854BE4D2Q26770423-8877705B-9503-4924-9739-10CB4CCF696EQ26824526-CF6B13AD-7E2B-49FB-97A0-A1E126EF767FQ28074804-3463CE0F-BA66-4E35-A9B1-80D3B93E7A7EQ28594543-3CE95A37-0405-4734-9C19-DAD7229295DDQ33564704-4D9A0797-3CD3-4249-ADCE-39E95A212C39Q34013321-41565046-91B0-4E63-B21B-88164C7870F2Q34996571-488E1D1E-8346-48B3-8366-2042999C7B05Q35737711-A1496A2D-8D7F-4896-B5E1-CE6A1E0F112DQ36173940-C586C1E9-ACCB-45E9-A5B9-16EBEC903B9DQ36468318-BC96C931-00C3-4100-AE6C-06BD9B30C2BDQ36586052-CBC75E06-A975-48ED-916A-5A9B80B13571Q36786555-19E7AD63-75C5-469D-AA05-23B5CE295A98Q36856938-AC8AB9CA-E814-41FF-91E8-8A2B3C702A68Q36870145-298B40C7-36E0-408E-ABEC-8D3BF65EFD1CQ36881612-34B6FA2D-CF05-4D15-A69D-D483DA40F932Q37042618-08AA37B9-4CE1-419B-A6CD-2823BCEAD8FAQ37073909-EE7F5D09-7459-463D-9081-D879049DBD55Q37203321-40CEAD27-01C4-4B65-B0BF-E27E3C407EA6Q37458493-C36B651E-A5DC-49CF-8B86-D9EFAC0F55ADQ37889772-64A14E1A-B084-435D-96FF-A5D529641FFEQ37999075-AB3C466F-DCB0-4D95-8B27-CB3940536A12Q38028847-6FBA5339-2908-4C35-800A-11E1103C40F7Q38065938-98C42EE4-9FAA-47AD-9E31-E5CB786ADCB7Q38081914-9873FF3A-A038-4FEB-9363-363227ADE20EQ39038887-445728A9-AA70-4443-ADED-C092FD26FA04Q40492722-A4A120AD-EEC3-4BD2-A04B-C25097612CADQ41996021-EF4CB387-8BFE-4E35-8555-778711248A11Q42681353-0F77A51D-C6BB-437A-8BD8-65000A344BB0Q47134873-3A05B8AF-196D-4E3E-9333-F32C21B9C036Q48080069-A9F085AF-8049-493A-8ECE-954F522F67FDQ48219682-3F64A53B-8ECF-4D62-9CE2-04805CDA2462Q48222125-70EB4E93-0776-46B5-B819-AF99CDB53673Q48614603-69FD2B9B-E2AD-4BBC-834A-35C086775139Q49721336-F82DC8BE-57B4-45DA-A2E5-245FF3C51F24Q53630508-7DA5D69E-F09E-495C-8974-A1163E1C452FQ57334263-6F0B506B-DE60-41E5-BA97-9C0469B84428
P2860
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
The spectrum of pathology in central core disease.
@en
The spectrum of pathology in central core disease.
@nl
type
label
The spectrum of pathology in central core disease.
@en
The spectrum of pathology in central core disease.
@nl
prefLabel
The spectrum of pathology in central core disease.
@en
The spectrum of pathology in central core disease.
@nl
P2093
P1476
The spectrum of pathology in central core disease.
@en
P2093
Helliwell T
Quinlivan RC
Schröder R
P304
P356
10.1016/S0960-8966(02)00135-9
P577
2002-12-01T00:00:00Z