标题
Mitochondrial disease and epilepsy
作者
关键词
-
出版物
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Volume 54, Issue 5, Pages 397-406
出版商
Wiley
发表日期
2012-01-28
DOI
10.1111/j.1469-8749.2011.04214.x
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
- (2011) Merei Huigsloot et al. AMERICAN JOURNAL OF HUMAN GENETICS
- COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
- (2011) Saskia F. Heeringa et al. JOURNAL OF CLINICAL INVESTIGATION
- POLG1 manifestations in childhood
- (2011) P. Isohanni et al. NEUROLOGY
- Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
- (2010) Daniele Ghezzi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pontocerebellar hypoplasia type 6: A British case with PEHO-like features
- (2010) Julia Rankin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Is It ADEM, POLG, or Both?
- (2010) Mandy O. Harris et al. ARCHIVES OF NEUROLOGY
- Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I
- (2010) Jessica Nouws et al. Cell Metabolism
- Polymerase gamma disease through the ages
- (2010) Russell P. Saneto et al. Developmental Disabilities Research Reviews
- Epileptic phenotypes in children with respiratory chain disorders
- (2010) Sandra El Sabbagh et al. EPILEPSIA
- Ketogenic diet slows down mitochondrial myopathy progression in mice
- (2010) Sofia Ahola-Erkkilä et al. HUMAN MOLECULAR GENETICS
- FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
- (2010) Elisa Fassone et al. HUMAN MOLECULAR GENETICS
- TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
- (2010) R. Spiegel et al. JOURNAL OF MEDICAL GENETICS
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
- (2010) Sarah E Calvo et al. NATURE GENETICS
- 175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands
- (2010) Z.M.A. Chrzanowska-Lightowlers et al. NEUROMUSCULAR DISORDERS
- A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease
- (2009) Andrew J. Duncan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
- (2009) Ann Saada et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts
- (2009) F Molinari et al. CLINICAL GENETICS
- Carnitine in the treatment of valproic acid-induced toxicity
- (2009) Philippe E.R. Lheureux et al. CLINICAL TOXICOLOGY
- Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases
- (2009) S Rahman et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Basal ganglia neuroprotection with anticonvulsants after energy stress: a comparative study
- (2009) S. Arpin et al. METABOLIC BRAIN DISEASE
- A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
- (2009) Gittan Kollberg et al. NEUROMUSCULAR DISORDERS
- A Novel Mitochondrial DNA Mutation inCOX1Leads to Strokes, Seizures, and Lactic Acidosis
- (2009) E. W. Y. Tam et al. NEUROPEDIATRICS
- Prevalence of Mitochondrial 1555A→G Mutation in European Children
- (2009) Maria Bitner-Glindzicz et al. NEW ENGLAND JOURNAL OF MEDICINE
- Ketogenic Diet in Alpers-Huttenlocher Syndrome
- (2009) Charuta N. Joshi et al. PEDIATRIC NEUROLOGY
- ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency
- (2008) Clotilde Lagier-Tourenne et al. AMERICAN JOURNAL OF HUMAN GENETICS
- C6ORF66 Is an Assembly Factor of Mitochondrial Complex I
- (2008) Ann Saada et al. AMERICAN JOURNAL OF HUMAN GENETICS
- FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency
- (2008) Daniele Ghezzi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures
- (2008) Julie Mollet et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diagnosis of mitochondrial DNA depletion syndromes
- (2008) S. Rahman et al. ARCHIVES OF DISEASE IN CHILDHOOD
- A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
- (2008) David J. Pagliarini et al. CELL
- Homozygous W748S mutation in thePOLG1gene in patients with juvenile-onset Alpers syndrome and status epilepticus
- (2008) Johanna Uusimaa et al. EPILEPSIA
- Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions
- (2008) Young Mock Lee et al. EPILEPSIA
- Status epilepticus in children with Alpers’ disease caused byPOLG1mutations: EEG and MRI features
- (2008) Nicole I. Wolf et al. EPILEPSIA
- Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion
- (2008) Jan-Willem Taanman et al. HUMAN MUTATION
- The unique neuroradiology of complex I deficiency due to NDUFA12L defect
- (2008) Flora Barghuti et al. MOLECULAR GENETICS AND METABOLISM
- Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies
- (2008) D. Khurana et al. NEUROPEDIATRICS
- Metabolic Testing in the Pediatric Epilepsy Unit
- (2008) Sumit Parikh et al. PEDIATRIC NEUROLOGY
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started