Congenital myopathies (Q71509066)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795848%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

review article

1 reference

title

Congenital myopathies (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795848%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

H H Goebel

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795848%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

publication date

1 June 1996

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795848%20AND%20SRC:MED&resulttype=core&format=json

Seminars in pediatric neurology

19 October 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795848%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

3

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19 October 2019

issue

2

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19 October 2019

page(s)

152-161

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795848%20AND%20SRC:MED&resulttype=core&format=json

A new familial congenital myopathy in children with desmin and dystrophin reacting plaques

19 October 2019

cites work

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7 January 2021

Rigid spine syndrome and rigid spine sign in myopathies

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7 January 2021

Scoliosis associated with central core disease

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7 January 2021

Congenital myopathies

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7 January 2021

Congenital hypotonia revisited

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7 January 2021

Common origin of rods, cores, miniature cores, and focal loss of cross-striations

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7 January 2021

Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy

1 reference

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7 January 2021

Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis

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7 January 2021

A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicores

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7 January 2021

Myopathy with pathological features of both centronuclear myopathy and multicore disease

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7 January 2021

Centronuclear myopathy with special consideration of the adult form

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7 January 2021

Reducing body myopathy--ultrastructure and classification (author's transl)

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7 January 2021

Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings

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7 January 2021

Hyaline body myopathy

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7 January 2021

Mallory body-like inclusions in a hereditary congenital neuromuscular disease

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7 January 2021

Neonatal form of nemaline myopathy, muscle immaturity, and a microvascular injury

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7 January 2021

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

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7 January 2021

A new congenital non-progressive myopathy

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7 January 2021

A unique case of dystrophinopathy

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7 January 2021

Myosin Degeneration in a Congenital Myopathy

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7 January 2021

Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments

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7 January 2021

Acute myopathy with selective degeneration of myosin filaments following status asthmaticus treated with methylprednisolone and vecuronium

1 reference

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7 January 2021

Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both

1 reference

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7 January 2021

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1 reference

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7 January 2021

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

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7 January 2021

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

1 reference

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7 January 2021

Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions

1 reference

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7 January 2021

Expression of cell adhesion molecules in inflammatory myopathies

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7 January 2021

Abnormal distribution of desmin and vimentin in myofibers in adult onset myotubular myopathy

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7 January 2021

New insights into the pathogenesis of congenital myopathies

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7 January 2021

The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein

1 reference

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7 January 2021

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

1 reference

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7 January 2021

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle

1 reference

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7 January 2021

Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments

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7 January 2021

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

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7 January 2021

Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin

1 reference

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7 January 2021

Storage of phosphorylated desmin in a familial myopathy

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7 January 2021

Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

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7 January 2021

Autosomal dominant ?spheroid body myopathy?

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7 January 2021

Progression in nemaline myopathy

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7 January 2021

Pathology of congenital nemaline myopathy. A follow-up study

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7 January 2021

Broad A bands of striated muscle in Leber's congenital amaurosis: a new congenital myopathy?

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7 January 2021

King syndrome: a genetically heterogenous phenotype due to congenital myopathies

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7 January 2021

Sequential studies of a childhood myopathy: a clinical, histochemical and morphometric investigation

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7 January 2021

Two siblings with nemaline myopathy presenting with rigid spine syndrome

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7 January 2021

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

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7 January 2021

10.1016/S1071-9091(96)80043-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795848%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference