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。Mitochondrial diseases in North America: An analysis of the NAMDC Registry
Emanuele Barca et al.
NEUROLOGY-GENETICS (2020)
Revisiting mitochondrial diagnostic criteria in the new era of genomics
Peter Witters et al.
GENETICS IN MEDICINE (2018)
Neuroimaging in mitochondrial disorders
Mario Mascalchi et al.
MITOCHONDRIAL DISEASES (2018)
MERRF Classification: Implications for Diagnosis and Clinical Trials
Josef Finsterer et al.
PEDIATRIC NEUROLOGY (2018)
Mitochondrial disease patient motivations and barriers to participate in clinical trials
Zarazuela Zolkipli-Cunningham et al.
PLOS ONE (2018)
Diagnostic odyssey of patients with mitochondrial disease
Johnston Grier et al.
NEUROLOGY-GENETICS (2018)
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh et al.
GENETICS IN MEDICINE (2017)
International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy
Michelangelo Mancuso et al.
NEUROMUSCULAR DISORDERS (2017)
Myopathology of Adult and Paediatric Mitochondrial Diseases
Rahul Phadke
JOURNAL OF CLINICAL MEDICINE (2017)
A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases
Ryan L. Davis et al.
NEUROLOGY (2016)
Mitochondrial diseases
Grainne S. Gorman et al.
NATURE REVIEWS DISEASE PRIMERS (2016)
Prevalence of Nuclear and Mitochondrial DNA Mutations Related to Adult Mitochondrial Disease
Grainne S. Gorman et al.
ANNALS OF NEUROLOGY (2015)
Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders
Shuichi Yatsuga et al.
ANNALS OF NEUROLOGY (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Redefining phenotypes associated with mitochondrial DNA single deletion
Michelangelo Mancuso et al.
JOURNAL OF NEUROLOGY (2015)
Mitochondrial Donation - How Many Women Could Benefit?
Grainne S. Gorman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh et al.
GENETICS IN MEDICINE (2015)
Serum Fibroblast Growth Factor-21 Levels Are Associated With Carotid Atherosclerosis Independent of Established Cardiovascular Risk Factors
Wing Sun Chow et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2013)
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders
Hong Cui et al.
GENETICS IN MEDICINE (2013)
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
Saskia B. Wortmann et al.
JOURNAL OF INHERITED METABOLIC DISEASE (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 maze of mitochondrial neurology
Salvatore DiMauro et al.
NATURE REVIEWS NEUROLOGY (2013)
Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next
Elizabeth McCormick et al.
NEUROTHERAPEUTICS (2013)
Relationship of Serum Fibroblast Growth Factor 21 with Abnormal Glucose Metabolism and Insulin Resistance: The Baltimore Longitudinal Study of Aging
Richard D. Semba et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Single deletions in mitochondrial DNA - Molecular mechanisms and disease phenotypes in clinical practice
R. D. S. Pitceathly et al.
NEUROMUSCULAR DISORDERS (2012)
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
J. Uusimaa et al.
JOURNAL OF MEDICAL GENETICS (2011)
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
Anu Suomalainen et al.
LANCET NEUROLOGY (2011)
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
Rita Horvath et al.
BRAIN (2009)
Central Nervous System Imaging in Mitochondrial Disorders
Josef Finsterer
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2009)
URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION
R. G. Whittaker et al.
NEUROLOGY (2009)
Neuroimaging of mitochondrial disease
Russell P. Saneto et al.
MITOCHONDRION (2008)
The in-depth evaluation of suspected mitochondrial disease
Richard H. Haas et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Light microscopic methods to visualize mitochondria on tissue sections
Kurenai Tanji et al.
METHODS (2008)
Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement:: can we predict progression?
Karine Aure et al.
BRAIN (2007)
MERRF syndrome without ragged-red fibers: The need for molecular diagnosis
Michelangelo Mancuso et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
Mitochondrial disease criteria - Diagnostic applications in children
E. Morava et al.
NEUROLOGY (2006)
Cerebral lactic acidosis correlates with neurological impairment in MELAS
P Kaufmann et al.
NEUROLOGY (2004)
Diagnostic criteria for respiratory chain disorders in adults and children
FP Bernier et al.
NEUROLOGY (2002)
Mitochondrial disorders - A proposal for consensus diagnostic criteria in infants and children
NI Wolf et al.
NEUROLOGY (2002)
Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders
KG Sim et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2002)
分享论文
