(Q52171605)

26 April 2018

title

Neurologic presentations of mitochondrial disorders. (English)

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author

Nathan Watemberg

4

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Dorit Lev

3

object named as

D Lev

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author name string

A Nissenkorn

1

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A Zeharia

2

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A Fattal-Valevski

5

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V Barash

6

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A Gutman

7

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S Harel

8

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T Lerman-Sagie

9

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publication date

1 January 2000

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26 April 2018

Journal of Child Neurology

published in

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volume

15

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issue

1

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page(s)

44-48

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Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.

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1 reference

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Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

21 January 2018

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A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

21 January 2018

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Subacute necrotizing encephalomyelopathy in an infant

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Genetic heterogeneity in Leigh syndrome.

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307380001500110

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

21 January 2018

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Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307380001500110

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307380001500110

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

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Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

21 January 2018

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Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

21 January 2018

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Clinical presentation of mitochondrial disorders in childhood.

21 January 2018

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Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

21 January 2018

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Neurological presentations of mitochondrial diseases

21 January 2018

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Autism: a mitochondrial disorder?

21 January 2018

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

21 January 2018

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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

21 January 2018

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10.1177/088307380001500110

21 January 2018

Identifiers

DOI

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26 April 2018

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26 April 2018