(Q33720822)

28 July 2017

Heterogeneous patterns of tissue injury in NARP syndrome (English)

1 reference

28 July 2017

Jeffrey M Gelfand

1

1 reference

28 July 2017

Jacque L Duncan

2

1 reference

28 July 2017

Caroline A Racine

3

1 reference

28 July 2017

Leslie A Gillum

4

1 reference

28 July 2017

Cynthia T Chin

5

1 reference

28 July 2017

Yuhua Zhang

6

1 reference

28 July 2017

Qing Zhang

7

1 reference

28 July 2017

Lee-Jun C Wong

8

1 reference

28 July 2017

Austin Roorda

9

1 reference

28 July 2017

Ari J Green

10

1 reference

28 July 2017

16 October 2010

1 reference

28 July 2017

1 reference

28 July 2017

258

1 reference

28 July 2017

3

1 reference

28 July 2017

440-448

1 reference

https://scigraph.springernature.com/pub.10.1007/s00415-010-5775-1

28 July 2017

0 references

cites work

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Neuropsychiatric symptoms in Parkinson's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Gene-environment interactions in Leber hereditary optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Adaptive optics scanning laser ophthalmoscopy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Striatal degeneration impairs language learning: evidence from Huntington's disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Retinal nerve fiber layer defects in RP patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Prevalence of mitochondrial DNA disease in adults

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

A review on cognitive impairments in depressive and anxiety disorders with a focus on young adults

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Psychiatric comorbidity in 36 adults with mitochondrial cytopathies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

NARP syndrome and adult-onset generalised seizures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Real-time quantitative polymerase chain reaction analysis of mitochondrial DNA point mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Neurocognition in depression: patients on and off medication versus healthy comparison subjects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

MEMS-based adaptive optics scanning laser ophthalmoscopy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Mitochondrial DNA mutations in human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

TRANS-SYNAPTIC RETROGRADE DEGENERATION IN THE VISUAL SYSTEM OF PRIMATES.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Neuropsychiatry of Huntington's disease and other basal ganglia disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

The cerebellar cognitive affective syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.

21 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5775-1

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5775-1

Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5775-1

Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5775-1

Mitochondrial disorders, cognitive impairment and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5775-1

Visual object and visuospatial cognition in Huntington's disease: implications for information processing in corticostriatal circuits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5775-1

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3068520

Supernormal vision and high-resolution retinal imaging through adaptive optics

30 October 2018

1 reference

12 December 2020

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

1 reference

12 December 2020

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

1 reference

12 December 2020

Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA

1 reference

12 December 2020

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

12 December 2020

10.1007/S00415-010-5775-1

Identifiers

DOI

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference