scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1002042750 |
P356 | DOI | 10.1038/SREP19544 |
P8608 | Fatcat ID | release_3vsig7vrjfat3dmrhyo3mi6x64 |
P932 | PMC publication ID | 4731780 |
P698 | PubMed publication ID | 26822410 |
P5875 | ResearchGate publication ID | 292343277 |
P50 | author | Devin M Cox | Q86828712 |
Agustin Legido | Q117803407 | ||
P2093 | author name string | John Slattery | |
Richard E Frye | |||
Stephen Kahler | |||
Doreen Granpeesheh | |||
Marie Tippett | |||
Michael J Goldenthal | |||
Shirish Damle | |||
P2860 | cites work | Phenotypic consequences of a novelSCO2gene mutation | Q59394038 |
Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: comparison with studies in muscle biopsy | Q83092447 | ||
Copy number variation influences gene expression and metabolic traits in mice | Q37378108 | ||
Acute infantile liver failure due to mutations in the TRMU gene. | Q37408197 | ||
Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort | Q37453274 | ||
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. | Q38120386 | ||
Mitochondrial disease in 22q13 duplication syndrome | Q41934213 | ||
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness | Q46157086 | ||
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) | Q46214257 | ||
Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. | Q46497027 | ||
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality | Q47311130 | ||
Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I. | Q48063300 | ||
Segmental copy number variation shapes tissue transcriptomes | Q48712677 | ||
5q14.3 deletion manifesting as mitochondrial disease and autism: case report | Q50304932 | ||
Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation | Q50312783 | ||
Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected myoclonic epilepsy and ragged red fibers (MERRF). | Q50522064 | ||
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene | Q22010737 | ||
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes | Q22337162 | ||
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction | Q24597501 | ||
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome) | Q24612792 | ||
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models | Q27322785 | ||
Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits | Q28118081 | ||
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency | Q28140889 | ||
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome | Q28237432 | ||
Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase | Q28241063 | ||
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome | Q28306951 | ||
Relative impact of nucleotide and copy number variation on gene expression phenotypes | Q29614883 | ||
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder | Q30534798 | ||
The effect of translocation-induced nuclear reorganization on gene expression | Q33812517 | ||
The Children's Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children | Q33930357 | ||
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome | Q33967982 | ||
The first knockin mouse model of episodic ataxia type 2 | Q34325294 | ||
Implementing the American Academy of Pediatrics attention-deficit/hyperactivity disorder diagnostic guidelines in primary care settings | Q34840371 | ||
Structural variation-associated expression changes are paralleled by chromatin architecture modifications | Q35050556 | ||
Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse | Q36501934 | ||
Metabolic effects of sapropterin treatment in autism spectrum disorder: a preliminary study | Q36764473 | ||
Biochemical assays of respiratory chain complex activity | Q36796192 | ||
Redox metabolism abnormalities in autistic children associated with mitochondrial disease | Q36956659 | ||
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice | Q37090114 | ||
The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells | Q37309209 | ||
Sleep hygiene for children with neurodevelopmental disabilities | Q37338683 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 19544 | |
P577 | publication date | 2016-01-29 | |
P1433 | published in | Scientific Reports | Q2261792 |
P1476 | title | Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome | |
P478 | volume | 6 |
Q42694581 | Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction |
Q44602403 | Bioenergetic variation is related to autism symptomatology |
Q57922552 | Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder |
Q97418099 | Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder |
Q26744037 | Identification and Treatment of Pathophysiological Comorbidities of Autism Spectrum Disorder to Achieve Optimal Outcomes |
Q47552997 | Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. |
Q48326258 | Mechanisms of Mendelian dominance. |
Q64248477 | Mitochondrial Dysfunction Is Inducible in Lymphoblastoid Cell Lines From Children With Autism and May Involve the TORC1 Pathway |
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