SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
about
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusPhospholamban overexpression in mice causes a centronuclear myopathy-like phenotype.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyProteogenomics connects somatic mutations to signalling in breast cancer.Exploring Mouse Protein Function via Multiple Approaches.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthRescue of neonatal cardiac dysfunction in mice by administration of cardiac progenitor cells in utero.Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray.Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Myopathology in times of modern imaging.Myopathology in congenital myopathies.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Congenital myopathies: clinical phenotypes and new diagnostic tools.SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.The potential of obscurin as a therapeutic target in muscle disorders.A map of the phosphoproteomic alterations that occur after a bout of maximal-intensity contractions.Defining the Complexity of the Junctional Membrane Complex.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Congenital titinopathy: Comprehensive characterisation and pathogenic insights.A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathyCentronuclear myopathies under attack: A plethora of therapeutic targets
P2860
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P2860
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին 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
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@ast
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@en
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@nl
type
label
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@ast
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@en
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@nl
prefLabel
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@ast
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@en
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@nl
P2093
P2860
P1476
SPEG interacts with myotubular ...... hy with dilated cardiomyopathy
@en
P2093
Behzad Moghadaszadeh
Beril Talim
Christopher R Pierson
Gianina Ravenscroft
Göknur Haliloğlu
Kyle S Yau
Lindsay C Swanson
Marissa Viola
Mark A Perrella
Mugdha Joshi
P2860
P304
P356
10.1016/J.AJHG.2014.07.004
P407
P577
2014-07-31T00:00:00Z