(Q34995818)

5 August 2017

0 references

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy (English)

1 reference

5 August 2017

main subject

mitochondrial disease

1 reference

Yusuke Sakiyama

1

1 reference

5 August 2017

Yuji Okamoto

2

1 reference

5 August 2017

Itsuro Higuchi

3

1 reference

5 August 2017

Yukie Inamori

4

1 reference

5 August 2017

Yoko Sangatsuda

5

1 reference

5 August 2017

Kumiko Michizono

6

1 reference

5 August 2017

Osamu Watanabe

7

1 reference

5 August 2017

Hideyuki Hatakeyama

8

1 reference

5 August 2017

Yu-ichi Goto

9

1 reference

5 August 2017

Kimiyoshi Arimura

10

1 reference

5 August 2017

Hiroshi Takashima

11

1 reference

5 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21424749

28 November 2024

publication date

22 March 2011

1 reference

full work available at URL

5 August 2017

https://link.springer.com/content/pdf/10.1007/s00401-011-0818-y.pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21424749

https://europepmc.org/articles/PMC3098999

28 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21424749

https://europepmc.org/articles/PMC3098999?pdf=render

28 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21424749

http://www.springerlink.com/index/pdf/10.1007/s00401-011-0818-y

28 November 2024

1 reference

10.1007/S00401-011-0818-Y

DOI

https://api.crossref.org/works/10.1007/S00401-011-0818-Y

28 November 2024

published in

Acta Neuropathologica

1 reference

5 August 2017

volume

121

1 reference

5 August 2017

issue

6

1 reference

5 August 2017

page(s)

775-783

1 reference

Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation.

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Axial myopathies: an elderly disorder.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Camptocormia as a clinical manifestation of mitochondrial myopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Camptocormia: pathogenesis, classification, and response to therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Diagnostic criteria for respiratory chain disorders in adults and children.

8 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Camptocormia: a sign of axial myopathy. Report of 7 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

The old and the new camptocormia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Neuropathology of white matter disease in Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Axial myopathy--an unrecognised entity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Mitochondrial resequencing arrays detect tumor-specific mutations in salivary rinses of patients with head and neck cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Severe forward flexion of the trunk in Parkinson's disease: focal myopathy of the paraspinal muscles mimicking camptocormia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098999

Novel Mitochondrial Transfer RNAPhe Gene Mutation Associated With Late-Onset Neuromuscular Disease

26 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

MELAS- and kearns-sayre-type with myopathy and autoimmune polyendocrinopahy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-011-0818-Y

Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome

21 January 2018

1 reference

12 December 2020

Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach

1 reference

12 December 2020

[Camptocormia in the elderly patient: myopathy or muscular dystonia?]

1 reference

12 December 2020

Hashimoto Thyreoiditis Is Associated with Defects of Cytochrome-c Oxidase in Oxyphil Askanazy Cells and with the Common Deletion (4,977) of Mitochondrial DNA

1 reference

12 December 2020

A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease

1 reference

12 December 2020

Multiple episodes of thrombosis in a patient with Becker muscular dystrophy with marked expression of utrophin on the muscle cell membrane.

1 reference

12 December 2020

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

1 reference

12 December 2020

Revue du rhumatisme (Ed. francaise : 1993)

28

60

159

P Poullin

1993

1 reference

10.1007/S00401-011-0818-Y

DOI

https://api.crossref.org/works/10.1007/S00401-011-0818-Y

10.1007/S00401-011-0818-Y

28 November 2024

Identifiers

DOI

1 reference

Dimensions Publication ID

5 August 2017

1053290886

0 references

Fatcat ID

release_pz677jllzvhrbje5t52emrr7gu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pz677jllzvhrbje5t52emrr7gu

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3098999

1 reference

5 August 2017

1 reference