(Q38029277)

27 August 2017

The ever-expanding spectrum of congenital muscular dystrophies (English)

1 reference

27 August 2017

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Eugenio Mercuri

1

1 reference

PubMed ID

22829265

27 August 2017

Francesco Muntoni

series ordinal

2

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PubMed ID

22829265

27 August 2017

language of work or name

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1 July 2012

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27 August 2017

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27 August 2017

72

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27 August 2017

1

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27 August 2017

9-17

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The congenital muscular dystrophies in 2004: a century of exciting progress

27 August 2017

1 reference

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

21 January 2018

1 reference

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

21 January 2018

1 reference

Feeding problems in merosin deficient congenital muscular dystrophy

21 January 2018

1 reference

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

21 January 2018

1 reference

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

21 January 2018

1 reference

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

21 January 2018

1 reference

Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy

21 January 2018

1 reference

Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency

21 January 2018

1 reference

A refined diagnostic algorithm for Bethlem myopathy

21 January 2018

1 reference

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening

21 January 2018

1 reference

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

Early onset collagen VI myopathies: Genetic and clinical correlations

21 January 2018

1 reference

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

21 January 2018

1 reference

Collagen VI related muscle disorders

21 January 2018

1 reference

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

21 January 2018

1 reference

Natural history of Ullrich congenital muscular dystrophy.

21 January 2018

1 reference

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

21 January 2018

1 reference

Autosomal recessive inheritance of classic Bethlem myopathy

21 January 2018

1 reference

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

1 reference

The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.

21 January 2018

1 reference

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

21 January 2018

1 reference

Mutations in the integrin alpha7 gene cause congenital myopathy

21 January 2018

1 reference

'Congenital muscular dystrophy caused by integrin alpha7 deficiency'.

21 January 2018

1 reference

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.

21 January 2018

1 reference

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

21 January 2018

1 reference

Dystroglycanopathies: coming into focus

21 January 2018

1 reference

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

21 January 2018

1 reference

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy

21 January 2018

1 reference

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

21 January 2018

1 reference

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 January 2018

1 reference

Congenital muscular dystrophies with cognitive impairment. A population study.

21 January 2018

1 reference

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

21 January 2018

1 reference

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

21 January 2018

1 reference

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

21 January 2018

1 reference

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

21 January 2018

1 reference

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

21 January 2018

1 reference

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

21 January 2018

1 reference

21 January 2018

1 reference

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 January 2018

1 reference

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

21 January 2018

1 reference

21 January 2018

1 reference

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

21 January 2018

1 reference

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment

21 January 2018

1 reference

Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis

21 January 2018

1 reference

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

21 January 2018

1 reference

De novo LMNA mutations cause a new form of congenital muscular dystrophy

21 January 2018

1 reference

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

21 January 2018

1 reference

A new congenital muscular dystrophy with mitochondrial structural abnormalities.

21 January 2018

1 reference

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis

21 January 2018

1 reference

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

21 January 2018

1 reference

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.23548

1 reference

27 August 2017

1 reference

PubMed ID

22829265