(Q36326526)

13 August 2017

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title

Electron microscopy in neuromuscular disorders (English)

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Dominique Figarella-Branger

13 August 2017

author

2

object named as

Dominique Figarella-Branger

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author name string

Carla Fernandez

1

1 reference

13 August 2017

David Meyronet

3

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13 August 2017

Elisabeth Cassote

4

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13 August 2017

Soutsakhone Tong

5

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13 August 2017

Jean-François Pellissier

6

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13 August 2017

publication date

1 November 2005

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Ultrastructural Pathology

13 August 2017

published in

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13 August 2017

volume

29

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13 August 2017

issue

6

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13 August 2017

page(s)

437-450

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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

13 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

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Lysosomal storage in human skeletal muscle

21 January 2018

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Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

21 January 2018

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https://api.crossref.org/works/10.1080%2F01913120500323175

X-linked myopathy with excessive autophagy: a new hereditary muscle disease

21 January 2018

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X-linked myopathy with excessive autophagy: a clinicopathological study of five new families

21 January 2018

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Chloroquine-induced cytosomes with curvilinear profiles in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. An immunohistochemical and electron microscopic study of two cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Tubular aggregates in type II muscle fibers: Ultrastructural and histochemical correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

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

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Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization

21 January 2018

1 reference

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Myopathy with thick filament (myosin) loss following prolonged paralysis with vecuronium during steroid treatment

21 January 2018

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Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

21 January 2018

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https://api.crossref.org/works/10.1080%2F01913120500323175

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

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https://api.crossref.org/works/10.1080%2F01913120500323175

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Mutations in myotilin cause myofibrillar myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Cylindrical spirals in human skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01913120500323175

Infantile intranuclear rod myopathy

21 January 2018

1 reference

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10.1080/01913120500323175

21 January 2018

Identifiers

DOI

1 reference

13 August 2017

1 reference