Mitochondrial Disease in Childhood: mtDNA Encoded

Mitochondrial dynamics: General concepts and clinical implications

(2012) M. Milone et al.   NEUROLOGY

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

(2011) Jessica Nouws et al.   BRAIN

The implications of mitochondrial DNA copy number regulation during embryogenesis

(2011) Phillippa J. Carling et al.   MITOCHONDRION

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

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

Degradation of Paternal Mitochondria by Fertilization-Triggered Autophagy in C. elegans Embryos

(2011) M. Sato et al.   SCIENCE

Postfertilization Autophagy of Sperm Organelles Prevents Paternal Mitochondrial DNA Transmission

(2011) S. Al Rawi et al.   SCIENCE

Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

(2010) Carla Giordano et al.   BRAIN

Polymerase gamma disease through the ages

(2010) Russell P. Saneto et al.   Developmental Disabilities Research Reviews

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

(2010) Bekim Sadikovic et al.   PLoS One

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

The accessory subunit of mitochondrial DNA polymerase γ determines the DNA content of mitochondrial nucleoids in human cultured cells

(2009) M. Di Re et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial DNA replication and repair: all a flap

(2009) Ian J. Holt   TRENDS IN BIOCHEMICAL SCIENCES

New Evidence Confirms That the Mitochondrial Bottleneck Is Generated without Reduction of Mitochondrial DNA Content in Early Primordial Germ Cells of Mice

(2009) Liqin Cao et al.   PLoS Genetics

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

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

Ultrastructure of the Mitochondrion and Its Bearing on Function and Bioenergetics

(2008) Giovanni Benard et al.   ANTIOXIDANTS & REDOX SIGNALING

The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh Syndrome

(2008) Sara Shanske et al.   ARCHIVES OF NEUROLOGY

Polyadenylation in mammalian mitochondria: Insights from recent studies

(2008) Takashi Nagaike et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

(2008) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A functionally dominant mitochondrial DNA mutation

(2008) S. Sacconi et al.   HUMAN MOLECULAR GENETICS

Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation

(2008) Wanshi Cai et al.   Journal of Genetics and Genomics

Neuroimaging of mitochondrial disease

(2008) Russell P. Saneto et al.   MITOCHONDRION

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

(2008) Timothy Wai et al.   NATURE GENETICS

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses

(2008) K. Gibson et al.   PEDIATRICS

Transcriptional Paradigms in Mammalian Mitochondrial Biogenesis and Function

(2008) Richard C. Scarpulla   PHYSIOLOGICAL REVIEWS

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine