(Q35445773)

English

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

author name string

A Limongelli

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

J Schaefer

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

S Jackson

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

F Invernizzi

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Y Kirino

5

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

T Suzuki

6

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

H Reichmann

7

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

M Zeviani

8

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

0 references

publication date

1 May 2004

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

8 August 2017

41

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

342-349

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Leber hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Assembly of cytochrome-c oxidase in cultured human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

In vivo labeling and analysis of human mitochondrial translation products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Genetic heterogeneity in Leigh syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

27 July 2018

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

26 September 2018

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

26 September 2018

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

26 September 2018

Do the four clades of the mtDNA haplogroup L2 evolve at different rates?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

26 September 2018

Mitochondrial defects and hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

26 September 2018

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

26 September 2018

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

26 September 2018

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735786

26 September 2018

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

1 reference

https://pubmed.ncbi.nlm.nih.gov/15121771

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial medicine

1 reference

https://pubmed.ncbi.nlm.nih.gov/15121771

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15121771

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15121771

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15121771

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2003.016048

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

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