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。Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction
Ji-Hoon Na et al.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS (2020)
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
Rebecca D. Ganetzky et al.
HUMAN MUTATION (2019)
A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
Tao-Ran Li et al.
FRONTIERS IN NEUROLOGY (2019)
Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
Sunho Lee et al.
FRONTIERS IN NEUROLOGY (2019)
Lennox-Gastaut Syndrome in Mitochondrial Disease
Soonie Lee et al.
YONSEI MEDICAL JOURNAL (2019)
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Kalliopi Sofou et al.
JOURNAL OF MEDICAL GENETICS (2018)
Cause of Death in Children With Mitochondrial Diseases
Soyong Eom et al.
PEDIATRIC NEUROLOGY (2017)
Expert Opinion on the Management of Lennox-Gastaut Syndrome: Treatment Algorithms and Practical Consideration
J. Helen Cross et al.
FRONTIERS IN NEUROLOGY (2017)
Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline
Soyong Eom et al.
FRONTIERS IN NEUROLOGY (2017)
Leigh syndrome: One disorder, more than 75 monogenic causes
Nicole J. Lake et al.
ANNALS OF NEUROLOGY (2016)
High-specificity detection of rare alleles with Paired-End Low Error Sequencing (PELE-Seq)
Jessica L. Preston et al.
BMC GENOMICS (2016)
A somatic reference standard for cancer genome sequencing
David W. Craig et al.
SCIENTIFIC REPORTS (2016)
PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing
Meetha P. Gould et al.
PLOS ONE (2015)
Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature
Rebecca J. Levy et al.
JOURNAL OF CHILD NEUROLOGY (2014)
Adverse drug reactions induced by valproic acid
Radu M. Nanau et al.
CLINICAL BIOCHEMISTRY (2013)
Genetic and biochemical findings in Chinese children with Leigh syndrome
Yan-Yan Ma et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2013)
Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A>G mutation
Yan-Yan Ma et al.
MITOCHONDRIAL DNA (2013)
Next generation molecular diagnosis of mitochondrial disorders
Lee-Jun C. Wong
MITOCHONDRION (2013)
New treatments for mitochondrial disease-no time to drop our standards
Gerald Pfeffer et al.
NATURE REVIEWS NEUROLOGY (2013)
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome
Victoria Nesbitt et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)
Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders
Josef Finsterer et al.
EXPERT OPINION ON DRUG METABOLISM & TOXICOLOGY (2012)
Drugs interfering with mitochondrial disorders
Josef Finsterer et al.
DRUG AND CHEMICAL TOXICOLOGY (2010)
Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology
Alexis Arzimanoglou et al.
LANCET NEUROLOGY (2009)
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies
D. S. Khurana et al.
NEUROPEDIATRICS (2008)
Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects
Hoon-Chul Kang et al.
EPILEPSIA (2007)
Mechanisms of disease: Mitochondrial respiratory-chain diseases
S DiMauro et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
分享论文
