(Q35132741)

6 August 2017

title

Genetics and mitochondrial abnormalities in autism spectrum disorders: a review (English)

1 reference

6 August 2017

main subject

autism spectrum disorder

0 references

autism

0 references

author name string

Sukhbir Dhillon

series ordinal

1

1 reference

6 August 2017

Jessica A Hellings

series ordinal

2

1 reference

6 August 2017

Merlin G Butler

series ordinal

3

1 reference

6 August 2017

publication date

1 August 2011

1 reference

6 August 2017

1 reference

6 August 2017

volume

12

1 reference

6 August 2017

issue

5

1 reference

6 August 2017

page(s)

322-332

1 reference

Mitochondrial dysfunction in autism

6 August 2017

cites work

1 reference

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Bioenergetics and the epigenome: Interface between the environment and genes in common diseases

13 July 2018

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Autism spectrum disorders and epigenetics

13 July 2018

1 reference

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Clinical genetic testing for patients with autism spectrum disorders

13 July 2018

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The genetics of autism: key issues, recent findings, and clinical implications

13 July 2018

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Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges.

13 July 2018

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Fever plus mitochondrial disease could be risk factors for autistic regression

13 July 2018

1 reference

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Syndromic autism: causes and pathogenetic pathways

13 July 2018

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

13 July 2018

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Common genetic variants on 5p14.1 associate with autism spectrum disorders

13 July 2018

1 reference

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Nuclear and mitochondrial genome defects in autisms

13 July 2018

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Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism

13 July 2018

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Mitochondrial disease in autism spectrum disorder patients: a cohort analysis

13 July 2018

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

13 July 2018

1 reference

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Autism and Metabolic Diseases

13 July 2018

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How environmental and genetic factors combine to cause autism: A redox/methylation hypothesis

13 July 2018

1 reference

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Identification and Evaluation of Children With Autism Spectrum Disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Genetic testing in autism: how much is enough?

13 July 2018

1 reference

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Strong association of de novo copy number mutations with autism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

DNA polymerase gamma in mitochondrial DNA replication and repair.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Disorders of nuclear-mitochondrial intergenomic signaling

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial respiratory-chain diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Neuronal degeneration and mitochondrial dysfunction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Thymidine phosphorylase: a two-face Janus in anticancer chemotherapy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

13 July 2018

1 reference

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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

13 July 2018

1 reference

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

13 July 2018

1 reference

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Pervasive Developmental Disorders in Preschool Children

13 July 2018

1 reference

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The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

13 July 2018

1 reference

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

13 July 2018

1 reference

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Intelligence patterns among children with high-functioning autism, phenylketonuria, and childhood head injury

13 July 2018

1 reference

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Review of oxidative stress in brain and spinal cord injury: suggestions for pharmacological and nutritional management strategies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial diseases in man and mouse

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Autism: a mitochondrial disorder?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

The biological basis of autism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

A broader phenotype of autism: the clinical spectrum in twins

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Autism as a strongly genetic disorder: evidence from a British twin study

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Autism and genetic disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Prader-Willi syndrome: current understanding of cause and diagnosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Counting target molecules by exponential polymerase chain reaction: copy number of mitochondrial DNA in rat tissues

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

5q14.3 deletion manifesting as mitochondrial disease and autism: case report.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Association study of the SLC25A12 gene and autism in Han Chinese in Taiwan.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial control of epigenetics

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Autistic disorder in 2 children with mitochondrial disorders.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial DNA abnormalities and autistic spectrum disorders.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial localization of Smad5 in a human chondrogenic cell line

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Diagnostic criteria for respiratory chain disorders in adults and children.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Value of a clinical morphology examination in autism.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Nuclear-mitochondrial intergenomic communication

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Autism and maternally derived aberrations of chromosome 15q.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Serum serotonin, lactate and pyruvate levels in infantile autistic children.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Autism and lactic acidosis.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145262

Characterization of a catalytically slow AP lyase activity in DNA polymerase gamma and other family A DNA polymerases

27 September 2018

1 reference

12 December 2020

Oxidative stress and apoptosis

1 reference

12 December 2020

A deletion of mitochondrial DNA in murine doxorubicin-induced cardiotoxicity

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12 December 2020

Oxidative damage elicited by imbalance of free radical scavenging enzymes is associated with large-scale mtDNA deletions in aging human skin

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12 December 2020

Mitochondrial genes and disease

1 reference

12 December 2020

10.2174/138920211796429745

Identifiers

DOI

1 reference

release_abdzzjkzs5gshiiautzdo7offa

6 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/abdzzjkzs5gshiiautzdo7offa

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3145262

1 reference

6 August 2017

1 reference