The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). - Wikidata - wikimedia - TriplyDB

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

http://www.wikidata.org/entity/Q44350367

about

Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.Dysferlinopathy course and sportive activity: clues for possible treatment Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.Screening two mutations in the dysferlin gene by exon capture and sequence analysis: A case report.Genetic silencing of Nrf2 enhances X-ROS in dysferlin-deficient muscle.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.Progress and challenges in diagnosis of dysferlinopathy.Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?Dominant LGMD2A: alternative diagnosis or hidden digenism?

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The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

http://www.wikidata.org/entity/Q44350367

description

2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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2010年學術文章

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name

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

@en

The clinical course of calpainopathy

@nl

type

label

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

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The clinical course of calpainopathy

@nl

prefLabel

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

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The clinical course of calpainopathy

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Neurological Research

P1476

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

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A C Nascimbeni

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C Borsato

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E Tasca

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P2860

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Defective membrane repair in dysferlin-deficient muscular dystrophy

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

Making sense of the limb-girdle muscular dystrophies.

Immune responses to adeno-associated virus vectors.

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism.

Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.

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1

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Corrado Angelini

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