(Q33728072)

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Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome).

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Europe PubMed Central

PubMed publication ID

28 July 2017

Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome). (English)

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Europe PubMed Central

PubMed publication ID

28 July 2017

myoclonic epilepsy

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author name string

Anja Brinckmann

1

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Europe PubMed Central

PubMed publication ID

28 July 2017

Claudia Weiss

2

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Europe PubMed Central

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28 July 2017

Friederike Wilbert

3

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Europe PubMed Central

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28 July 2017

Arpad von Moers

4

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28 July 2017

Angelika Zwirner

5

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Europe PubMed Central

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28 July 2017

Gisela Stoltenburg-Didinger

6

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Europe PubMed Central

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28 July 2017

Ekkehard Wilichowski

7

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28 July 2017

Markus Schuelke

8

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28 July 2017

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publication date

20 October 2010

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28 July 2017

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Europe PubMed Central

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28 July 2017

5

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28 July 2017

10

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28 July 2017

e13513

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Europe PubMed Central

PubMed publication ID

28 July 2017

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Creative Commons Attribution 4.0 International

20 October 2010

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April 2022 Public Data File from Crossref

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Mitochondrial DNA and disease

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Increased mitochondrial mass in mitochondrial myopathy mice

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Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

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28 July 2018

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

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Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy

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Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

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

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Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome

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28 July 2018

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

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Neuronal density, size and shape in the human anterior cingulate cortex: a comparison of Nissl and NeuN staining

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A new mathematical model for relative quantification in real-time RT-PCR

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Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

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De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.

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The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

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Relative degradation of nuclear and mitochondrial DNA: an experimental approach

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Mitochondrial transcription factor A regulates mtDNA copy number in mammals

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Increases of mitochondrial mass and mitochondrial genome in association with enhanced oxidative stress in human cells harboring 4,977 BP-deleted mitochondrial DNA.

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Reactive oxygen species and the segregation of mtDNA sequence variants

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976001

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976001

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of nuclear population from microtome sections

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https://pubmed.ncbi.nlm.nih.gov/20976001

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A quantitative morphometric study of the human anterior cingulate cortex

1 reference

https://pubmed.ncbi.nlm.nih.gov/20976001

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0013513

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

2010PLoSO...513513B

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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