Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathySevere congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literatureApproach to the diagnosis of congenital myopathiesKelch proteins: emerging roles in skeletal muscle development and diseases.Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusMutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesIdentification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order AmishKLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathyLeiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophyKelch Repeat and BTB Domain Containing Protein 5 (Kbtbd5) Regulates Skeletal Muscle Myogenesis through the E2F1-DP1 ComplexSevere myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathyLeiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionIntegrative data mining highlights candidate genes for monogenic myopathies.Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathyExpanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Mutation update: the spectra of nebulin variants and associated myopathies.Congenital myopathies: Natural history of a large pediatric cohort.Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.The human cardiac and skeletal muscle proteomes defined by transcriptomics and antibody-based profiling.Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014Clinical utility gene card for: Nemaline myopathy - update 2015.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthTreatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.Mutation-specific effects on thin filament length in thin filament myopathy.A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.Klhl6 Deficiency Impairs Transitional B Cell Survival and Differentiation.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Myopathology in congenital myopathies.Sarcomere Dysfunction in Nemaline Myopathy.KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.New strategies to inhibit KEAP1 and the Cul3-based E3 ubiquitin ligases.LMOD3: the "missing link" in nemaline myopathy?Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.Congenital myopathies: clinical phenotypes and new diagnostic tools.Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.
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Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 06 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
@en
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
@nl
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label
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
@en
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
@nl
prefLabel
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
@en
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
@nl
P2093
P2860
P50
P1476
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
@en
P2093
Adnan Manzur
Beril Talim
Carina Wallgren-Pettersson
Caroline A Sewry
Cathy Kiraly-Borri
Diclehan Orhan
Ekkhard Willichowski
Emily J Todd
Eriko Koshimizu
Francesco Muntoni
P2860
P356
10.1016/J.AJHG.2013.05.004
P407
P50
P577
2013-06-06T00:00:00Z