(Q51891859)

17 April 2018

title

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. (English)

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17 April 2018

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2

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17 April 2018

author name string

Shintaro Yamashita

series ordinal

1

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17 April 2018

Ikuya Nonaka

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3

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17 April 2018

Yu-Ichi Goto

series ordinal

4

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17 April 2018

publication date

15 April 2008

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17 April 2018

Journal of Human Genetics

published in

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17 April 2018

volume

53

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17 April 2018

issue

7

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17 April 2018

page(s)

598-606

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17 April 2018

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

cites work

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https://api.crossref.org/works/10.1007%2FS10038-008-0289-8

Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10038-008-0289-8

Molecular genetics, pseudogenetics, and clinical neurology. The Robert Wartenberg Lecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-008-0289-8

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-008-0289-8

Detection of DNA Fragments Encompassing the Deletion Junction of Mitochondrial Genome

21 January 2018

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12 December 2020

Deleted mitochondrial DNA in the skeletal muscle of aged individuals

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12 December 2020

Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction

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12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

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12 December 2020

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

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12 December 2020

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

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12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

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12 December 2020

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

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12 December 2020

Mitochondrial disease

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12 December 2020

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

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12 December 2020

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

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12 December 2020

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

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12 December 2020

Renal and skin involvement in a patient with complete Kearns-Sayre syndrome

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12 December 2020

Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy

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12 December 2020

Duplications of mitochondrial DNA in mitochondrial myopathy

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12 December 2020

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons

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12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

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12 December 2020

Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies

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12 December 2020

Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion

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12 December 2020

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

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12 December 2020

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

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12 December 2020

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

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12 December 2020

Analysis of mtDNA deletions in muscle by in situ hybridization

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12 December 2020

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

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12 December 2020

Role of adenine nucleotide translocator 1 in mtDNA maintenance

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12 December 2020

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

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12 December 2020

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

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12 December 2020

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies

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12 December 2020

Novel mitochondrial DNA deletion found in a renal cell carcinoma

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12 December 2020

Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy

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12 December 2020

Molecular insight into the asymmetric distribution of pathogenetic human mitochondrial DNA deletions

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12 December 2020

10.1007/S10038-008-0289-8

Identifiers

DOI

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17 April 2018

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17 April 2018