(Q43727404)

26 November 2017

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. (English)

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limb-girdle muscular dystrophy

26 November 2017

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4

Mark A Tarnopolsky

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26 November 2017

Mats I Nilsson

1

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PubMed ID

23519732

26 November 2017

Marissa L Laureano

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2

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PubMed ID

23519732

26 November 2017

Munim Saeed

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3

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26 November 2017

21 March 2013

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26 November 2017

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26 November 2017

47

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26 November 2017

5

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26 November 2017

740-747

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26 November 2017

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21 January 2018

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 January 2018

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Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

21 January 2018

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Dysferlin and the plasma membrane repair in muscular dystrophy

21 January 2018

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Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

21 January 2018

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From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis

21 January 2018

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A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis.

21 January 2018

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Retracted: Dysferlin Interacts with Histone Deacetylase 6 and Increases alpha-Tubulin Acetylation

21 January 2018

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Novel diagnostic features of dysferlinopathies

21 January 2018

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Analysis of the DYSF mutational spectrum in a large cohort of patients

21 January 2018

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Measurement of protein using bicinchoninic acid

21 January 2018

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A two-step procedure for efficient electrotransfer of both high-molecular-weight (greater than 400,000) and low-molecular-weight (less than 20,000) proteins

21 January 2018

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Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle.

21 January 2018

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Inhibition of plasminogen activator inhibitor-1 restores skeletal muscle regeneration in untreated type 1 diabetic mice

21 January 2018

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Real-time RT-PCR analysis of housekeeping genes in human skeletal muscle following acute exercise.

21 January 2018

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Women have higher protein content of beta-oxidation enzymes in skeletal muscle than men.

21 January 2018

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

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Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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Predicting deleterious amino acid substitutions

21 January 2018

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

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Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome

21 January 2018

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Differential immunohistological features of inflammatory myopathies and dysferlinopathy

21 January 2018

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Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

21 January 2018

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Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

21 January 2018

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Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

21 January 2018

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Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes

21 January 2018

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Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

21 January 2018

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Dysferlin-deficient muscular dystrophy features amyloidosis.

21 January 2018

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Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

21 January 2018

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Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

21 January 2018

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Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides

21 January 2018

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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

21 January 2018

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Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

21 January 2018

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New aspects on patients affected by dysferlin deficient muscular dystrophy

21 January 2018

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Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

21 January 2018

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A simple method for displaying the hydropathic character of a protein

21 January 2018

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Novel DYSF mutations in Thai patients with distal myopathy.

21 January 2018

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Late onset in dysferlinopathy widens the clinical spectrum

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MUS.23666

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26 November 2017

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PubMed ID

23519732