| scholarly article | Q13442814 |
| P2093 | author name string | Richard E Frye | |
| P2860 | cites work | Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation | Q41937036 |
| 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 | ||
| Mitochondrial dysfunction in autistic patients with 15q inverted duplication | Q46444033 | ||
| Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality | Q47311130 | ||
| Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease | Q47985739 | ||
| Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I. | Q48063300 | ||
| Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene | Q22010737 | ||
| 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 | ||
| Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase | Q28241063 | ||
| Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation | Q28258859 | ||
| The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism | Q29547456 | ||
| Central nervous system manifestations of mitochondrial disorders | Q31058031 | ||
| Recent developments in the investigation of inherited metabolic disorders using cultured human cells | Q33754994 | ||
| Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome | Q33967982 | ||
| Contributions of the environment and environmentally vulnerable physiology to autism spectrum disorders | Q34093753 | ||
| Mitochondrial dysfunction and pathology in bipolar disorder and schizophrenia | Q34137363 | ||
| Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders | Q35232104 | ||
| Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease | Q35790038 | ||
| Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse | Q36501934 | ||
| Biochemical assays of respiratory chain complex activity | Q36796192 | ||
| Pathogenic mitochondrial DNA mutations in protein-coding genes | Q36822197 | ||
| Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders | Q36927121 | ||
| Acute infantile liver failure due to mutations in the TRMU gene. | Q37408197 | ||
| Molecular genetics of mitochondrial disorders | Q37785514 | ||
| P433 | issue | 7 | |
| P921 | main subject | mitochondrial disease | Q935710 |
| P304 | page(s) | 942-949 | |
| P577 | publication date | 2012-02-28 | |
| P1433 | published in | Journal of Child Neurology | Q6294935 |
| P1476 | title | Mitochondrial disease in 22q13 duplication syndrome | |
| P478 | volume | 27 |
| Q37259490 | Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study |
| Q37607012 | Autism, Mitochondria and Polybrominated Diphenyl Ether Exposure. |
| Q42694581 | Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction |
| Q57922552 | Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder |
| Q30410996 | Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome |
| Q26744037 | Identification and Treatment of Pathophysiological Comorbidities of Autism Spectrum Disorder to Achieve Optimal Outcomes |
| Q38273909 | Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder |
| Q36517059 | Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome |
| Q26744759 | Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder |
| Q28078384 | Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment |
| Q33814205 | Treatments for biomedical abnormalities associated with autism spectrum disorder. |
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