about
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species ComparisonsLive imaging of muscle histolysis in Drosophila metamorphosisA model of muscle atrophy based on live microscopy of muscle remodelling in Drosophila metamorphosis.Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.Vici syndrome: a reviewReview of RyR1 pathway and associated pathomechanismsIn vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy.Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype.Editorial: Pathophysiological Mechanisms of Sarcopenia in Aging and in Muscular Dystrophy: A Translational Approach.EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray.Diaphragm assessment in mice overexpressing phospholamban in slow-twitch type I muscle fibers."Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular DisordersMalignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.Myopathology in times of modern imaging.Spatial pattern analysis of nuclear migration in remodelled muscles during Drosophila metamorphosis.Excitation-Contraction Coupling Alterations in Myopathies.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.Myofibrils put the squeeze on nuclei.Autophagy--a fundamental cellular mechanism on the verge of clinical translation.Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.MuscleJ: a high-content analysis method to study skeletal muscle with a new Fiji toolTamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
P2860
Q26773024-027A0304-35AD-43A8-9A10-B8A17F4123ADQ27318506-62C70402-638B-4A21-9193-8D8CCBE32440Q27334997-B9C071A8-A046-47AD-ADF9-EA40316C1773Q27350517-4AAFF4D8-86C4-4DD6-A006-203FB9ADE757Q28068922-1D272612-2458-47F7-BBBA-4DAEBB52B636Q28078420-9FBB052D-2816-4D47-B730-02DE749F0387Q30834629-A8E03706-089A-42BD-8689-9125579CB43FQ35923504-79E6C246-7A0A-4128-A265-00A4DD9CC69FQ35947839-F65CC44C-6E63-423C-8A4D-772F5741D2C2Q36615500-E741C950-B77D-4890-9E95-BDDC9CA99254Q36802641-5D0B622D-729F-401F-AA42-50BAD5F10557Q36830169-4C59F309-B650-40C7-8382-4CE5C016FAC3Q37610585-4874E896-AAAF-4217-8B95-D66533E2F4C5Q38734399-7BCE9805-AC51-4DBB-B603-E06415C9FD1DQ38749268-4B8F47E3-4F9B-41B4-8B73-A4C2887AAC19Q38767197-83D869DD-4D2B-4E01-B1F2-E758C96DC78DQ40979105-3E030BDF-CA28-4C6B-94F8-A48FF91C5473Q42046918-D55FECCB-EDED-4C31-9293-9FF8505875F8Q47104776-2A9D49E4-00D5-496D-A1AE-6821D89AD507Q47380261-5825FB73-A1CE-4A07-AAF8-CC911E997B9CQ47601966-7C1B6963-E8AE-48F1-85C4-EE690F71DE4AQ48222125-787FF159-8B9F-4026-BEF5-0E265F8E54F3Q50426653-B415598A-A0D2-4F07-82B2-5783E2C5DA30Q52942332-A3B9131E-DD82-49EE-9682-90934A2E7A02Q55397765-11AD280B-440D-4A2B-8C8A-CC8A56D29839Q58798825-A8FEC59B-B414-4AFC-B868-0F97A58AFC16Q59125219-33EFBB19-5451-42FF-8052-14544C7361D1
P2860
description
2014 nî lūn-bûn
@nan
2014 թուականին հրատարակուած գիտական յօդուած
@hyw
2014 թվականին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Pathogenic mechanisms in centronuclear myopathies
@ast
Pathogenic mechanisms in centronuclear myopathies
@en
Pathogenic mechanisms in centronuclear myopathies
@en-gb
Pathogenic mechanisms in centronuclear myopathies
@nl
type
label
Pathogenic mechanisms in centronuclear myopathies
@ast
Pathogenic mechanisms in centronuclear myopathies
@en
Pathogenic mechanisms in centronuclear myopathies
@en-gb
Pathogenic mechanisms in centronuclear myopathies
@nl
prefLabel
Pathogenic mechanisms in centronuclear myopathies
@ast
Pathogenic mechanisms in centronuclear myopathies
@en
Pathogenic mechanisms in centronuclear myopathies
@en-gb
Pathogenic mechanisms in centronuclear myopathies
@nl
P2860
P3181
P356
P1476
Pathogenic mechanisms in centronuclear myopathies
@en
P2860
P3181
P356
10.3389/FNAGI.2014.00339
P407
P577
2014-01-01T00:00:00Z