(Q30981330)

28 June 2017

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title

White matter involvement in mitochondrial diseases (English)

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28 June 2017

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Esther Leshinsky-Silver

series ordinal

2

object named as

Esther Leshinsky-Silver

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Tally Lerman-Sagie

series ordinal

1

object named as

Tally Lerman-Sagie

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28 June 2017

Nathan Watemberg

3

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Dorit Lev

series ordinal

5

object named as

Dorit Lev

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28 June 2017

Yehudit Luckman

4

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28 June 2017

publication date

10 December 2004

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Molecular Genetics and Metabolism

28 June 2017

published in

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28 June 2017

volume

84

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28 June 2017

issue

2

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28 June 2017

page(s)

127-136

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Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features

28 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Nuclear genetic defects of oxidative phosphorylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Cerebral white matter involvement in children with mitochondrial encephalopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Leber hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Association of the 11778 mitochondrial DNA mutation and demyelinating disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Subacute necrotizing encephalomyelopathy in an infant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Leigh disease associated with a novel mitochondrial DNA ND5 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

A novel mtDNA C11777A mutation in Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

A SURF1 gene mutation presenting as isolated leukodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

MNGIE: from nuclear DNA to mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Multiple mtDNA deletions with features of MNGIE.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Neuropathology in Kearns-Sayre syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

New pattern of brain MRI lesions in isolated complex I deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Clinical features and neuroradiological findings of mitochondrial pathology in six neonates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Human cytochrome oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

A novel deficiency of mitochondrial ATPase of nuclear origin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

Mitochondrial dysfunction as a cause of optic neuropathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.008

10.1016/J.YMGME.2004.09.008

7 January 2021

Identifiers

DOI

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28 June 2017

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