(Q46104223)

19 December 2017

title

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia (English)

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19 December 2017

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8

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19 December 2017

Angela Abicht

3

object named as

Angela Abicht

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19 December 2017

Elke Holinski-Feder

4

object named as

Elke Holinski-Feder

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19 December 2017

author name string

Rita Horváth

1

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19 December 2017

Andreas Bender

2

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19 December 2017

Birgit Czermin

5

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19 December 2017

Tobias Trips

6

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19 December 2017

Peter Schneiderat

7

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19 December 2017

Thomas Klopstock

9

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19 December 2017

publication date

1 March 2009

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19 December 2017

published in

Journal of Neurology

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19 December 2017

volume

256

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19 December 2017

issue

5

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19 December 2017

page(s)

810-815

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19 December 2017

https://scigraph.springernature.com/pub.10.1007/s00415-009-5023-8

exact match

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5023-8

Multiple mtDNA deletions with features of MNGIE.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5023-8

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

21 January 2018

1 reference

12 December 2020

Paralytic ileus in MELAS with phenotypic features of MNGIE.

1 reference

12 December 2020

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

1 reference

12 December 2020

A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

1 reference

12 December 2020

Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions

1 reference

12 December 2020

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

12 December 2020

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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

High degree of mitochondrial 3243 mutation in gastric biopsy specimen in a patient with MELAS and diabetes complicated by marked gastrointestinal abnormalities

1 reference

12 December 2020

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

1 reference

12 December 2020

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

1 reference

12 December 2020

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

12 December 2020

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

1 reference

12 December 2020

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

1 reference

12 December 2020

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

1 reference

12 December 2020

Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

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

Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

1 reference

12 December 2020

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

12 December 2020

Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

12 December 2020

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

1 reference

12 December 2020

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

12 December 2020

Search for characteristic structural features of mammalian mitochondrial tRNAs.

1 reference

12 December 2020

Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease

1 reference

12 December 2020

10.1007/S00415-009-5023-8

Identifiers

DOI

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19 December 2017

PubMed ID

19252805

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19 December 2017