Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. - Wikidata - awgldk - TriplyDB

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

http://www.wikidata.org/entity/Q37555776

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A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Fhl1 W122S causes loss of protein function and late-onset mild myopathy.A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.Anesthetic considerations in myofibrillar myopathy.The sarcomeric M-region: a molecular command center for diverse cellular processes.Mitochondrial abnormalities in the myofibrillar myopathies.Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue Effects of FHL1 and P21 on hypoxia-induced pulmonary vascular remodeling in neonatal rats.Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy.Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

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Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

http://www.wikidata.org/entity/Q37555776

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 September 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

Skeletal muscle biopsy analysi ...... other FHL1-related disorders.

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Skeletal muscle biopsy analysi ...... other FHL1-related disorders.

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Skeletal muscle biopsy analysi ...... other FHL1-related disorders.

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Skeletal muscle biopsy analysi ...... other FHL1-related disorders.

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Skeletal muscle biopsy analysi ...... other FHL1-related disorders.

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Skeletal muscle biopsy analysi ...... other FHL1-related disorders.

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NEN.0B013E3182A23506

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Journal of Neuropathology & Experimental Neurology

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Skeletal muscle biopsy analysi ...... other FHL1-related disorders.

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Ana Lía Taratuto

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Bernard Prudhon

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Bruno Eymard

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Carsten Bonnemann

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Edoardo Malfatti

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Emmanuelle Lacène

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Fabiana Lubieniecki

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Gabriel Vasquez

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Guy Brochier

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Joachim Schessl

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P2860

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and in n

Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1

Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1)

The LIM domain: from the cytoskeleton to the nucleus

Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly

Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

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833-845

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scholarly article

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10.1097/NEN.0B013E3182A23506

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9

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72

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Dominique Figarella-Branger

Nathalie Streichenberger

Pascale Richard

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2013-09-01T00:00:00Z

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23965743

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