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。Altered Dynamic Functional Connectivity in Patients With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) at Acute and Chronic Stages: Shared and Specific Brain Connectivity Abnormalities
Rong Wang et al.
JOURNAL OF MAGNETIC RESONANCE IMAGING (2021)
Assessing clinical evidence for idebenone in the treatment of chronic Leber Hereditary Optic Neuropathy: a systematic literature review
Sara Carlot et al.
ACTA OPHTHALMOLOGICA (2021)
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome
Sanjiban Chakrabarty et al.
JOURNAL OF NEUROLOGY (2021)
Therapeutic Options in Hereditary Optic Neuropathies
Giulia Amore et al.
DRUGS (2021)
Mitochondrial disorders and the eye
Eli Kisilevsley et al.
SURVEY OF OPHTHALMOLOGY (2020)
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A > G mutation in seven Han Chinese families
Gailing Liu et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2020)
Pioglitazone and Deoxyribonucleoside Combination Treatment Increases Mitochondrial Respiratory Capacity in m.3243A>G MELAS Cybrid Cells
Harrison J. Burgin et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Claudia Rodriguez-Lopez et al.
JOURNAL OF MEDICAL GENETICS (2020)
Inherited Metabolic Disorders Presenting with Ataxia
Grace Silver et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA
Mouna Habbane et al.
GENES (2020)
Therapeutic Approaches to Treat Mitochondrial Diseases: One-Size-Fits-All and Precision Medicine Strategies
Emanuela Bottani et al.
PHARMACEUTICS (2020)
Electroacupuncture pretreatment alleviates myocardial injury through regulating mitochondrial function
Chunai Wang et al.
EUROPEAN JOURNAL OF MEDICAL RESEARCH (2020)
Development of in-house genetic screening for pediatric hearing loss
Karl W. Doerfer et al.
LARYNGOSCOPE INVESTIGATIVE OTOLARYNGOLOGY (2020)
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort
Julia N. Heighton et al.
MITOCHONDRION (2019)
De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome
Zhixin Jiang et al.
JOURNAL OF DIABETES RESEARCH (2019)
The World Health Organization's hearing-impairment grading system: an evaluation for unaided communication in age-related hearing loss
Larry E. Humes
INTERNATIONAL JOURNAL OF AUDIOLOGY (2019)
Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition
Marion Masingue et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2019)
2/5000 interpretation of the Chinese guidelines for the diagnosis and treatment of tumefactive demyelinating lesions of central nervous system
S. Chandra et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2019)
Dysphagia in Patients with Sporadic Inclusion Body Myositis: Management Challenges
Nika Mohannak et al.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE (2019)
The clinical and genetic characteristics in children with mitochondrial disease in China (vol 60, pg 746, 2017)
Fang Fang et al.
SCIENCE CHINA-LIFE SCIENCES (2018)
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations
Parayil Sankaran Bindu et al.
CLINICAL NEUROLOGY AND NEUROSURGERY (2018)
Analysis of mitochondrial respiratory function in tissue biopsies and blood cells
Mario Ost et al.
CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE (2018)
Movement disorders in mitochondrial disease
Roula Ghaoui et al.
JOURNAL OF NEUROLOGY (2018)
Auditory function in Pelizaeus-Merzbacher disease
Thierry Morlet et al.
JOURNAL OF NEUROLOGY (2018)
Therapeutic regimen of l-arginine for MELAS: 9-year, prospective, multicenter, clinical research
Yasutoshi Koga et al.
JOURNAL OF NEUROLOGY (2018)
Fear of disease progression in carriers of the m.3243A > G mutation
Jose A. E. Custers et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
LOW LEVELS OF THE A3243G MTDNA MUTATION IN HUMAN INDUCED PLURIPOTENT STEM CELLCARDIOMYOCYTES DO NOT CAUSE FUNCTIONAL OR METABOLIC DISTURBANCES BUT INCREASE WITH FURTHER PASSAGING
C. P. Ricardo et al.
HEART (2018)
Cognitive impairment in neuromuscular diseases: A systematic review
Marco Orsini et al.
NEUROLOGY INTERNATIONAL (2018)
Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA
Gitte Hedermann et al.
MITOCHONDRION (2017)
Genetic Counselling for Maternally Inherited Mitochondrial Disorders
Joanna Poulton et al.
MOLECULAR DIAGNOSIS & THERAPY (2017)
Tone perception in Mandarin-speaking school age children with otitis media with effusion
Ting Cai et al.
PLOS ONE (2017)
Recognition, investigation and management of mitochondrial disease
James E. Davison et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2017)
Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy
Feng-Nan Niu et al.
CNS NEUROSCIENCE & THERAPEUTICS (2017)
Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy
Raymond C. B. Wong et al.
AGING-US (2017)
The level of free circulating mitochondrial DNA in blood as predictor of death in case of acute coronary syndrome
Nikolay P. Sudakov et al.
EUROPEAN JOURNAL OF MEDICAL RESEARCH (2017)
Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA
Chang-Yu Xia et al.
CHINESE MEDICAL JOURNAL (2016)
Human mitochondrial DNA replication machinery and disease
Matthew J. Young et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2016)
Mitochondrial disorders in children: toward development of small-molecule treatment strategies
Werner J. H. Koopman et al.
EMBO MOLECULAR MEDICINE (2016)
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
Mary Kay Koenig et al.
JAMA NEUROLOGY (2016)
Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss
Maryam Balali et al.
THERAPEUTICS AND CLINICAL RISK MANAGEMENT (2016)
Mitochondrial tRNAThr 15891C>G mutation was not associated with Leber's hereditary optic neuropathy in Han Chinese patients
Zhaochang Jiang et al.
MITOCHONDRIAL DNA PART A (2016)
The frequency of the m.1555A > G (MTRNR1) variant in UK patients with suspected mitochondrial deafness
Peter Kullar et al.
HEARING BALANCE AND COMMUNICATION (2016)
Leber's hereditary optic neuropathy is multiorgan not mono-organ
Josef Finsterer et al.
CLINICAL OPHTHALMOLOGY (2016)
One-stage dual latissimus dorsi muscle flap transfer with a pair of vascular anastomoses and double nerve suturing for long-standing facial paralysis
Okazaki Mutsumi et al.
JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY (2015)
The Outcome of Cochlear Implantation for Mitochondrial Disease Patients With Syndromic Hearing Loss
Norio Yamamoto et al.
OTOLOGY & NEUROTOLOGY (2015)