The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families. (Q52807117)

8 May 2018

title

The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families. (English)

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8 May 2018

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Filippo Maria Santorelli

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ORCID Public Data File 2021

author name string

Vilarinho L

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Santorelli FM

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Coelho I

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Rodrigues L

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Maia M

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Barata I

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Cabral P

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Dionísio A

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Guimarães A

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DiMauro S

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publication date

1 March 1999

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Journal of the Neurological Sciences

published in

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volume

163

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issue

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page(s)

168-174

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

The mitochondrial A3243G mutation presenting as severe cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Heterogeneous presentation in Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Cytochrome c oxidase deficiency in Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

MELAS: clinical features, biochemistry, and molecular genetics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Genetic heterogeneity in Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900030-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-510X(99)00030-1

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8 May 2018

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8 May 2018