(Q41180852)

27 September 2017

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title

Neurological presentations of mitochondrial diseases (English)

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27 September 2017

M Zeviani

1

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27 September 2017

B Bertagnolio

series ordinal

2

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27 September 2017

G Uziel

series ordinal

3

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27 September 2017

publication date

1 January 1996

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Journal of Inherited Metabolic Disease

27 September 2017

published in

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27 September 2017

volume

19

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27 September 2017

issue

4

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27 September 2017

page(s)

504-520

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Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

27 September 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799111

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

21 January 2018

1 reference

12 December 2020

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

1 reference

12 December 2020

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

12 December 2020

The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

1 reference

12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

1 reference

12 December 2020

Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.

1 reference

12 December 2020

An autosomal locus predisposing to deletions of mitochondrial DNA

1 reference

12 December 2020

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families

1 reference

12 December 2020

Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis

1 reference

12 December 2020

Mitochondrial dysfunction in multiple symmetrical lipomatosis

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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12 December 2020

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

1 reference

12 December 2020

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1 reference

12 December 2020

Investigation of respiratory chain activity in human heart

1 reference

12 December 2020

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

12 December 2020

Mitochondrial diseases

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12 December 2020

Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA

1 reference

12 December 2020

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

1 reference

12 December 2020

Fatal infantile liver failure associated with mitochondrial DNA depletion

1 reference

12 December 2020

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

1 reference

12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

12 December 2020

MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect

1 reference

12 December 2020

Nucleus-driven mutations of human mitochondrial DNA

1 reference

12 December 2020

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

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12 December 2020

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

12 December 2020

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1 reference

12 December 2020

The clinical features of mitochondrial myopathy

1 reference

12 December 2020

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

12 December 2020

Mitochondrial genetics: principles and practice

1 reference

12 December 2020

MERRF: a model disease for understanding the principles of mitochondrial genetics

1 reference

12 December 2020

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy

1 reference

12 December 2020

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

12 December 2020

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799111

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Dimensions Publication ID

27 September 2017

1012796249

0 references

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