(Q80806062)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18314141%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS (English)

1 reference

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3 January 2020

author name string

Kurenai Tanji

1

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3 January 2020

Petra Kaufmann

2

1 reference

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3 January 2020

Ali B Naini

3

1 reference

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3 January 2020

Jiesheng Lu

4

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3 January 2020

Timothy C Parsons

5

1 reference

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3 January 2020

Dong Wang

6

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3 January 2020

Joshua Z Willey

7

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3 January 2020

Sara Shanske

8

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3 January 2020

Michio Hirano

9

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3 January 2020

Eduardo Bonilla

10

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3 January 2020

Alexander Khandji

11

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3 January 2020

Salvatore Dimauro

12

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3 January 2020

Lewis P Rowland

13

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3 January 2020

publication date

7 March 2008

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Journal of the Neurological Sciences

3 January 2020

published in

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3 January 2020

volume

270

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3 January 2020

issue

1-2

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3 January 2020

page(s)

23-27

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A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

3 January 2020

cites work

1 reference

12 December 2020

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

1 reference

12 December 2020

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

1 reference

12 December 2020

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

1 reference

12 December 2020

Strongly succinate dehydrogenase-reactive blood vessels (SSV) in various neuromuscular diseases

1 reference

12 December 2020

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

1 reference

12 December 2020

Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging

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

1 reference

12 December 2020

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

12 December 2020

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

1 reference

12 December 2020

Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study

1 reference

12 December 2020

Compilation of tRNA sequences and sequences of tRNA genes

1 reference

12 December 2020

Serial diffusion-weighted imaging in MELAS

1 reference

12 December 2020

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

12 December 2020

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

1 reference

12 December 2020

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.

1 reference

12 December 2020

Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy

1 reference

12 December 2020

Neuropathological features of mitochondrial disorders

1 reference

12 December 2020

Melas: an original case and clinical criteria for diagnosis

1 reference

12 December 2020

10.1016/J.JNS.2008.01.016

Identifiers

DOI

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3 January 2020

1 reference

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3 January 2020

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