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Pathogenic mechanisms in centronuclear myopathiesCongenital myopathies: an updateRespiratory assessment in centronuclear myopathiesApproach to the diagnosis of congenital myopathiesConstitutive expression of Yes-associated protein (Yap) in adult skeletal muscle fibres induces muscle atrophy and myopathyNuclear migration events throughout developmentStac3 is a novel regulator of skeletal muscle development in miceMutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerizationRecent advances using zebrafish animal models for muscle disease drug discoveryBIN1 membrane curvature sensing and generation show autoinhibition regulated by downstream ligands and PI(4,5)P2.Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Translocating myonuclei have distinct leading and lagging edges that require kinesin and dyneinIn vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy.Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.Nesprin 1α2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscleGene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.Congenital myasthenic syndromes in 2012.Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells.Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy.Syd/JIP3 and JNK signaling are required for myonuclear positioning and muscle function.Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotypeCurrent status of the congenital myasthenic syndromes.A TGFβ-Smad4-Fgf6 signaling cascade controls myogenic differentiation and myoblast fusion during tongue developmentPhospholamban overexpression in mice causes a centronuclear myopathy-like phenotype.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyHACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.Muscle length and myonuclear position are independently regulated by distinct Dynein pathways.Clinical utility gene card for: Centronuclear and myotubular myopathies.Sarcolipin deletion exacerbates soleus muscle atrophy and weakness in phospholamban overexpressing mice.Respiratory motor function in individuals with centronuclear myopathiesCentronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortLarge duplication in MTM1 associated with myotubular myopathy.Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Diaphragm assessment in mice overexpressing phospholamban in slow-twitch type I muscle fibers.Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 23 February 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Centronuclear myopathies: a widening concept.
@en
Centronuclear myopathies: a widening concept.
@nl
type
label
Centronuclear myopathies: a widening concept.
@en
Centronuclear myopathies: a widening concept.
@nl
prefLabel
Centronuclear myopathies: a widening concept.
@en
Centronuclear myopathies: a widening concept.
@nl
P1476
Centronuclear myopathies: a widening concept.
@en
P2093
Norma Beatriz Romero
P304
P356
10.1016/J.NMD.2010.01.014
P577
2010-02-23T00:00:00Z