Phenotype of matrin-3-related distal myopathy in 16 German patients. - Wikidata - wikimedia - TriplyDB

Phenotype of matrin-3-related distal myopathy in 16 German patients.

Phenotype of matrin-3-related distal myopathy in 16 German patients.

http://www.wikidata.org/entity/Q51701990

about

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation.Axial myopathy: an overlooked feature of muscle diseases.Obstetric risk in patients with myopathy due to MATR3 mutations.Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype.New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.ALS: Recent Developments from Genetics Studies.Pathogenesis of amyotrophic lateral sclerosis.Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.Nuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing.ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology.Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.Linking hnRNP Function to ALS and FTD Pathology.Characterization of gene regulation and protein interaction networks for Matrin 3 encoding mutations linked to amyotrophic lateral sclerosis and myopathy.The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

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P2860

Phenotype of matrin-3-related distal myopathy in 16 German patients.

http://www.wikidata.org/entity/Q51701990

description

2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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2014年學術文章

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name

Phenotype of matrin-3-related distal myopathy in 16 German patients.

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Phenotype of matrin-3-related distal myopathy in 16 German patients.

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type

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Phenotype of matrin-3-related distal myopathy in 16 German patients.

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Phenotype of matrin-3-related distal myopathy in 16 German patients.

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prefLabel

Phenotype of matrin-3-related distal myopathy in 16 German patients.

@en

Phenotype of matrin-3-related distal myopathy in 16 German patients.

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Annals of Neurology

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Phenotype of matrin-3-related distal myopathy in 16 German patients.

@en

P2093

Dietrich Stoevesandt

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Frank Hanisch

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Gisela Stoltenburg-Didinger

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Joachim Weis

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Malte Kornhuber

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Marcus Deschauer

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Petra Baum

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Stephan Zierz

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Tobias J Müller

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P2860

Matrin 3 binds and stabilizes mRNA

Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Diagnostic impact of myotonic discharges in myofibrillar myopathies.

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response.

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.

The nuclear matrix revealed by eluting chromatin from a cross-linked nucleus.

Distinct muscle imaging patterns in myofibrillar myopathies.

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669-680

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10.1002/ANA.24255

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5

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76

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25154462

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