A guide to diagnosis and treatment of Leigh syndrome

Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome

(2013) Mike Gerards et al.   BRAIN

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

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

CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders

(2012) Michio Hirano et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

MRI Findings in Kernicterus

(2012) Smita Manchanda et al.   INDIAN JOURNAL OF PEDIATRICS

Late-adult onset Leigh syndrome

(2012) Penelope McKelvie et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations

(2012) K. J. Kinghorn et al.   JOURNAL OF NEUROLOGY

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

Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings

(2012) B. Tabarki et al.   NEUROLOGY

Monogenic Mitochondrial Disorders

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

Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield

(2012) Marcel Nelen et al.   PHARMACOGENOMICS

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

(2011) Dario Ronchi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

(2011) Elena J. Tucker et al.   Cell Metabolism

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

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

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

Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations

(2010) Rabab Debs et al.   ARCHIVES OF NEUROLOGY

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

(2010) Mike Gerards et al.   BRAIN

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

(2010) A Drousiotou et al.   CLINICAL GENETICS

The use of neuroimaging in the diagnosis of mitochondrial disease

(2010) Seth D. Friedman et al.   Developmental Disabilities Research Reviews

Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome

(2010) François-Guillaume Debray et al.   JOURNAL OF CHILD NEUROLOGY

Biochemical diagnosis of mitochondrial disorders

(2010) Richard J. T. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3

(2010) Esther Leshinsky-Silver 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

Polymerase Gamma 1 Mutations

(2010) Margherita Milone et al.   NEUROLOGIST

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

(2010) M. Herzer et al.   NEUROPEDIATRICS

Magnetic Resonance Imaging of Brain Injury in the High-Risk Term Infant

(2010) Serena J. Counsell et al.   SEMINARS IN PERINATOLOGY

Neuroimaging Findings in Acute Wernicke's Encephalopathy: Review of the Literature

(2009) Giulio Zuccoli et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

SURF1missense mutations promote a mild Leigh phenotype

(2009) D Piekutowska-Abramczuk et al.   CLINICAL GENETICS

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

(2009) Eva Morava et al.   MITOCHONDRION

Neuroimaging findings in pediatric Wernicke encephalopathy: a review

(2009) Giulio Zuccoli et al.   NEURORADIOLOGY

Diffusion-Weighted Imaging in Preclinical Leigh Syndrome

(2009) Akira Kumakura et al.   PEDIATRIC NEUROLOGY

The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies☆

(2008) M.A. Tarnopolsky   ADVANCED DRUG DELIVERY REVIEWS

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

(2008) Karin Naess et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

MR spectroscopy of the brain in Leigh syndrome

(2008) P.E. Sijens et al.   BRAIN & DEVELOPMENT

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: A long-term follow-up study

(2008) Kazuhiro Haginoya et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

How can we treat mitochondrial encephalomyopathies? approaches to therapy

(2008) Rita Horvath et al.   Neurotherapeutics

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

(2008) Shi-Bing Wang et al.   Pediatrics and Neonatology