Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. - Wikidata - awgldk - TriplyDB

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

http://www.wikidata.org/entity/Q31138777

about

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy Myofibrillar myopathies Diagnostic impact of myotonic discharges in myofibrillar myopathies.Axial myopathy: an overlooked feature of muscle diseases.Filamins in mechanosensing and signaling.Clinical reasoning: a 52-year-old woman with progressive proximal weakness.A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered Combined cardiological and neurological abnormalities due to filamin A gene mutation.Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Binding of pro-prion to filamin A: by design or an unfortunate blunder New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.Filamin C: a novel component of the KCNE2 interactome during hypoxia.Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.Distinct muscle imaging patterns in myofibrillar myopathies.In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy Molecular pathology of myofibrillar myopathies.Myofibrillar myopathies.ASB2α, an E3 ubiquitin ligase specificity subunit, regulates cell spreading and triggers proteasomal degradation of filamins by targeting the filamin calponin homology 1 domain Filamin C-related myopathies: pathology and mechanisms.Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Diagnosis of muscle diseases presenting with early respiratory failure.Mitochondrial abnormalities in the myofibrillar myopathies.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.Hereditary myopathies with early respiratory insufficiency in adults.FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy Overview of the Muscle Cytoskeleton.Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.DNA sequencing errors in molecular diagnostics of filamin myopathy.HSPB7 prevents cardiac conduction system defect through maintaining intercalated disc integrity.Clinical and histopathological features of myofibrillar myopathy in Warmblood horses.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.Abnormal spontaneous activity in primary myopathic disorders.Myofibrillar instability exacerbated by acute exercise in filaminopathy.Ultrastructural changes in LGMD1F

P2860

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P2860

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

http://www.wikidata.org/entity/Q31138777

description

2007 nî lūn-bûn

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2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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Clinical and morphological phe ...... a study of 31 German patients.

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Clinical and morphological phe ...... a study of 31 German patients.

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Clinical and morphological phe ...... a study of 31 German patients.

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Clinical and morphological phe ...... a study of 31 German patients.

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Clinical and morphological phe ...... a study of 31 German patients.

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Clinical and morphological phe ...... a study of 31 German patients.

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Alfried Germing

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Angela Huebner

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Christoph M Heyer

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Conny Reum

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Dieter O Fürst

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Dirk Fischer

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Karen Tolksdorf

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Katharina Eger

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Klaus Müller

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Maggie C Walter

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3250-3264

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scholarly article

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10.1093/BRAIN/AWM271

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Pt 12

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130

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Hanns Lochmüller

Janbernd Kirschner

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2007-12-01T00:00:00Z

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18055494

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