(Q37359970)

19 August 2017

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title

Pathological defects in congenital myopathies (English)

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19 August 2017

Caroline A Sewry

1

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19 August 2017

publication date

30 December 2008

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Journal of Muscle Research & Cell Motility

19 August 2017

published in

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19 August 2017

volume

29

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19 August 2017

issue

6-8

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19 August 2017

page(s)

231-238

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https://scigraph.springernature.com/pub.10.1007/s10974-008-9155-8

19 August 2017

exact match

0 references

cites work

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10974-008-9155-8

Mutations in myotilin cause myofibrillar myopathy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10974-008-9155-8

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies

21 January 2018

1 reference

12 December 2020

Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle.

1 reference

12 December 2020

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

1 reference

12 December 2020

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

1 reference

12 December 2020

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

1 reference

12 December 2020

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

1 reference

12 December 2020

Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy

1 reference

12 December 2020

The spectrum of pathology in central core disease

1 reference

12 December 2020

Muscle slowness in a family with nemaline myopathy

1 reference

12 December 2020

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred

1 reference

12 December 2020

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.

1 reference

12 December 2020

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

1 reference

12 December 2020

What's new in congenital myopathies?

1 reference

12 December 2020

Actin mutations are one cause of congenital fibre type disproportion

1 reference

12 December 2020

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

1 reference

12 December 2020

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

1 reference

12 December 2020

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1

1 reference

12 December 2020

Fetal akinesia sequence caused by nemaline myopathy

1 reference

12 December 2020

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

1 reference

12 December 2020

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

1 reference

12 December 2020

A mutation in myotilin causes spheroid body myopathy

1 reference

12 December 2020

Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci

1 reference

12 December 2020

Mutations in dynamin 2 cause dominant centronuclear myopathy

1 reference

12 December 2020

Congenital myopathies

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12 December 2020

Nebulin expression in patients with nemaline myopathy

1 reference

12 December 2020

Mutations in TPM3 are a common cause of congenital fiber type disproportion

1 reference

12 December 2020

Zebra body myopathy. Clinical, histochemical and ultrastructural studies

1 reference

12 December 2020

40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands

1 reference

12 December 2020

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

1 reference

12 December 2020

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

1 reference

12 December 2020

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

1 reference

12 December 2020

Muscle MRI in inherited neuromuscular disorders: past, present, and future

1 reference

12 December 2020

Intranuclear nemaline rod myopathy.

1 reference

12 December 2020

The role of immunocytochemistry in congenital myopathies

1 reference

12 December 2020

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

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12 December 2020

Congenital myopathies

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12 December 2020

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

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12 December 2020

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

1 reference

12 December 2020

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

1 reference

12 December 2020

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

1 reference

12 December 2020

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

1 reference

12 December 2020

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

1 reference

12 December 2020

10.1007/S10974-008-9155-8

Identifiers

DOI

1 reference

19 August 2017

1 reference