Disease progression in patients with single, large-scale mitochondrial DNA deletions

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

(2013) Cornelia Kornblum et al.   NATURE GENETICS

Progression of motor and nonmotor features of Parkinson's disease and their response to treatment

(2012) Thuy C. Vu et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

(2012) Paul de Laat et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cerebellar Ataxia in Patients With Mitochondrial DNA Disease

(2012) Nichola Zoe Lax et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Erratum

(2012)   NEUROEPIDEMIOLOGY

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†

(2012) Matthew G.D. Bates et al.   European Heart Journal-Cardiovascular Imaging

Cognitive-Behavioral Therapy for Depression in Parkinson's Disease: A Randomized, Controlled Trial

(2011) Roseanne D. Dobkin et al.   AMERICAN JOURNAL OF PSYCHIATRY

MELAS: A nationwide prospective cohort study of 96 patients in Japan

(2011) Shuichi Yatsuga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Longitudinal Changes in Cognition in Parkinson’s Disease with and without Dementia

(2011) David K. Johnson et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

(2011) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

Habitual Physical Activity in Mitochondrial Disease

(2011) Shehnaz Apabhai et al.   PLoS One

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

(2010) John K. Blackwood et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A 10-year follow-up of hippocampal volume on magnetic resonance imaging in early dementia and cognitive decline

(2010) T. den Heijer et al.   BRAIN

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

(2010) Bekim Sadikovic et al.   PLoS One

Fourteen-year longitudinal study of vascular risk factors, APOE genotype, and cognition: The ARIC MRI Study

(2009) David S. Knopman et al.   Alzheimers & Dementia

Longitudinal Study of the Transition From Healthy Aging to Alzheimer Disease

(2009) David K. Johnson et al.   ARCHIVES OF NEUROLOGY

Longitudinal progression of sporadic Parkinson's disease: a multi-tracer positron emission tomography study

(2009) R. Nandhagopal et al.   BRAIN

CPEO and KSS differ in the percentage and location of the mtDNA deletion

(2009) Ester López-Gallardo et al.   MITOCHONDRION

URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION

(2009) R. G. Whittaker et al.   NEUROLOGY

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

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

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

(2008) Shintaro Yamashita et al.   JOURNAL OF HUMAN GENETICS