Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability

Mitochondrial dysfunction in a family with psychosis and chronic fatigue syndrome

(2017) Helena Torrell et al.   MITOCHONDRION

A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs

(2016) Maria Angela Diroma et al.   BMC BIOINFORMATICS

Mitochondrial cytopathies

(2016) Ayman W. El-Hattab et al.   CELL CALCIUM

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Mitochondrial Copy Number as a Biomarker for Autism?

(2016) C. Golzio et al.   PEDIATRICS

Difference in mitochondrial DNA copy number in peripheral blood cells between probands with autism spectrum disorders and their unaffected siblings

(2016) Hee Jeong Yoo et al.   WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY

Leukocyte mitochondrial DNA copy number, anthropometric indices, and weight change in US women

(2016) Shasha Meng et al.   Oncotarget

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

(2016) Yiqin Wang et al.   PLoS Genetics

Correlates of Peripheral Blood Mitochondrial DNA Content in a General Population

(2015) Judita Knez et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism

(2015) Shan Chen et al.   BMC Psychiatry

A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

(2015) Mariangela Santorsola et al.   HUMAN GENETICS

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

(2014) Claudia Calabrese et al.   BIOINFORMATICS

Primary Care for Adults on the Autism Spectrum

(2014) Christina Nicolaidis et al.   MEDICAL CLINICS OF NORTH AMERICA

Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: An overview of Down syndrome, autism, Fragile X and Rett syndrome

(2014) Daniela Valenti et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals

(2014) K. Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder

(2014) Suzanne Goh et al.   JAMA Psychiatry

Mitochondrial DNA (mtDNA) in brain samples from patients with major psychiatric disorders: Gene expression profiles, MtDNA content and presence of the MtDNA common deletion

(2013) Helena Torrell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Genetics and the investigation of developmental delay/intellectual disability

(2013) M. Srour et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Autism

(2013) Meng-Chuan Lai et al.   LANCET

Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism

(2013) Eleonora Napoli et al.   Molecular Autism

No evidence that major mtDNA European haplogroups confer risk to schizophrenia

(2012) Ana Mosquera-Miguel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

New Evidence for the Involvement of Mitochondrial Inheritance in Schizophrenia

(2012) Begoña Verge et al.   JOURNAL OF CLINICAL PSYCHIATRY

Is mitochondrial DNA content a potential biomarker of mitochondrial dysfunction?

(2012) Afshan N. Malik et al.   MITOCHONDRION

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

(2011) D A Rossignol et al.   MOLECULAR PSYCHIATRY

HmtDB, a genomic resource for mitochondrion-based human variability studies

(2011) Francesco Rubino et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial Dysfunction Can Connect the Diverse Medical Symptoms Associated With Autism Spectrum Disorders

(2011) RICHARD E. FRYE et al.   PEDIATRIC RESEARCH

Mitochondrial DNA (mtDNA) and schizophrenia

(2010) B. Verge et al.   EUROPEAN PSYCHIATRY

Mitochondrial Dysfunction in Autism

(2010) Cecilia Giulivi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Autism Spectrum Disorder and Co-occurring Developmental, Psychiatric, and Medical Conditions Among Children in Multiple Populations of the United States

(2010) Susan E. Levy et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Altering the balance between healthy and mutated mitochondrial DNA

(2010) Paul M. Smith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Advances in Autism

(2009) Daniel H. Geschwind   Annual Review of Medicine

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS