(Q83409374)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19253345%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS (English)

1 reference

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22 January 2020

author name string

Mahsa Mehrazin

1

1 reference

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22 January 2020

Sara Shanske

2

1 reference

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22 January 2020

Petra Kaufmann

3

1 reference

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22 January 2020

Ying Wei

4

1 reference

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22 January 2020

Jorida Coku

5

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22 January 2020

Kristin Engelstad

6

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22 January 2020

Ali Naini

7

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22 January 2020

Darryl C De Vivo

8

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22 January 2020

Salvatore DiMauro

9

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22 January 2020

publication date

1 February 2009

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American Journal of Medical Genetics

22 January 2020

published in

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22 January 2020

volume

149A

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22 January 2020

issue

4

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22 January 2020

page(s)

584-587

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Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation

22 January 2020

cites work

1 reference

12 December 2020

Correlation between clinical and molecular features in two MELAS families

1 reference

12 December 2020

Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies

1 reference

12 December 2020

Prevalence of maternally inherited diabetes and deafness in diabetic populations in the Netherlands

1 reference

12 December 2020

MELAS syndrome: correlation between clinical features and molecular genetic analysis.

1 reference

12 December 2020

Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA

1 reference

12 December 2020

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

1 reference

12 December 2020

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

1 reference

12 December 2020

Detection of MELAS A3243G point mutation in muscle, blood and hair follicles

1 reference

12 December 2020

Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation

1 reference

12 December 2020

Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.

1 reference

12 December 2020

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

1 reference

12 December 2020

Population prevalence of the MELAS A3243G mutation.

1 reference

12 December 2020

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

1 reference

12 December 2020

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

1 reference

12 December 2020

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

12 December 2020

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

1 reference

12 December 2020

Mitochondrial respiratory-chain diseases

1 reference

12 December 2020

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

1 reference

12 December 2020

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

1 reference

12 December 2020

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis

1 reference

12 December 2020

Random-effects models for longitudinal data

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

12 December 2020

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

1 reference

12 December 2020

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

1 reference

12 December 2020

Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

1 reference

12 December 2020

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

1 reference

12 December 2020

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

12 December 2020

Diseases of the mitochondrial DNA.

1 reference

12 December 2020

The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations

1 reference

12 December 2020

Mitochondrial encephalomyopathies

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32703

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22 January 2020

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22 January 2020

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