Mitochondrial Disease in Childhood: Nuclear Encoded

Mitochondrial Ataxias

(2014) Josef Finsterer   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Cognitive dysfunction in mitochondrial disorders

(2012) J. Finsterer   ACTA NEUROLOGICA SCANDINAVICA

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Is the ketogenic diet effective in specific epilepsy syndromes?

(2012) Srishti Nangia et al.   EPILEPSY RESEARCH

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Monogenic Mitochondrial Disorders

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

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Primary and secondary CoQ10 deficiencies in humans

(2011) Catarina M. Quinzii et al.   BIOFACTORS

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

(2011) Caterina Garone et al.   BRAIN

Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis

(2011) Célia Nogueira et al.   JOURNAL OF CHILD NEUROLOGY

Mitochondrial DNA polymerase   mutations: an ever expanding molecular and clinical spectrum

(2011) S. Tang et al.   JOURNAL OF MEDICAL GENETICS

Dilation of the aortic root in mitochondrial disease patients

(2011) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

Adult Leigh Disease Without Failure to Thrive

(2011) Ken Sakushima et al.   NEUROLOGIST

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects

(2011) Manuel Schiff et al.   Seminars in Fetal & Neonatal Medicine

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

(2010) John P. Kemp et al.   BRAIN

Neuroimaging of stroke-like episodes in MELAS

(2010) Hiromichi Ito et al.   BRAIN & DEVELOPMENT

Autonomic Dysfunction Presenting as Orthostatic Intolerance in Patients Suffering From Mitochondrial Cytopathy

(2010) Khalil Kanjwal et al.   CLINICAL CARDIOLOGY

The neurologic manifestations of mitochondrial disease

(2010) Sumit Parikh   Developmental Disabilities Research Reviews

Epileptic phenotypes in children with respiratory chain disorders

(2010) Sandra El Sabbagh et al.   EPILEPSIA

Mitochondrial metabolite transport

(2010) Ferdinando Palmieri et al.   Essays in Biochemistry

Polymerase γ Gene POLG determines the risk of sodium valproate-induced liver toxicity

(2010) Joanna D. Stewart et al.   HEPATOLOGY

Evidence for Physical Association of Mitochondrial Fatty Acid Oxidation and Oxidative Phosphorylation Complexes

(2010) Yudong Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

(2010) A. S. Lebre et al.   JOURNAL OF MEDICAL GENETICS

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

(2010) Bruce H. Cohen et al.   METHODS

Current molecular diagnostic algorithm for mitochondrial disorders

(2010) Lee-Jun C. Wong et al.   MOLECULAR GENETICS AND METABOLISM

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

Mitochondrial DNA depletion syndromes – Many genes, common mechanisms

(2010) Anu Suomalainen et al.   NEUROMUSCULAR DISORDERS

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

(2010) Russell P. Saneto et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Pathogenic mutations of nuclear genes associated with mitochondrial disorders

(2009) X. Zhu et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

(2009) M A Gronlund et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Frequency of Mitochondrial Defects in Patients With Chronic Intestinal Pseudo-Obstruction

(2009) Aurélien Amiot et al.   GASTROENTEROLOGY

OPA1-associated disorders: Phenotypes and pathophysiology

(2009) Patrizia Amati-Bonneau et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial disorders, cognitive impairment and dementia

(2009) Josef Finsterer   JOURNAL OF THE NEUROLOGICAL SCIENCES

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

(2009) Daniele Ghezzi et al.   NATURE GENETICS

Ketogenic Diet in Alpers-Huttenlocher Syndrome

(2009) Charuta N. Joshi et al.   PEDIATRIC NEUROLOGY

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

(2008) Ortal Barel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

(2008) Valeria Massa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Disorders in the Nervous System

(2008) Salvatore DiMauro et al.   Annual Review of Neuroscience

Diseases caused by defects of mitochondrial carriers: A review

(2008) Ferdinando Palmieri   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Histiocytoid Cardiomyopathy: A Mitochondrial Disorder

(2008) Josef Finsterer   CLINICAL CARDIOLOGY

Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions

(2008) Young Mock Lee et al.   EPILEPSIA

Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group

(2008) Eric H. Kossoff et al.   EPILEPSIA

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia)

(2008) Josef Finsterer   JOURNAL OF THE NEUROLOGICAL SCIENCES

The in-depth evaluation of suspected mitochondrial disease

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

Metabolic Testing in the Pediatric Epilepsy Unit

(2008) Sumit Parikh et al.   PEDIATRIC NEUROLOGY

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders

(2008) Denise M. Kirby et al.   Twin Research and Human Genetics

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine

Differential diagnosis of cerebellar atrophy in childhood

(2007) Andrea Poretti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY