Hirofumi Komaki

Publications

• ADSSL1 Myopathy is the Most Common Nemaline Myopathy in Japan with Variable Clinical Features
  Neurology. Jul, 2020  |   Pubmed ID: 32646962
• Association of Dermatomyositis Sine Dermatitis With Anti-Nuclear Matrix Protein 2 Autoantibodies
  JAMA Neurology. Jul, 2020  |   Pubmed ID: 32310254
• A Case of CLCN2-related Leukoencephalopathy with Bright Tree Appearance During Aseptic Meningitis
  Brain & Development. Jun, 2020  |   Pubmed ID: 32173090
• Publisher Correction: Modelling Duchenne Muscular Dystrophy in MYOD1-converted Urine-derived Cells Treated with 3-deazaneplanocin A Hydrochloride
  Scientific Reports. Feb, 2020  |   Pubmed ID: 32034287
• Left Ventricular End-Diastolic Diameter and Cardiac Mortality in Duchenne Muscular Dystrophy
  Neuropsychiatric Disease and Treatment. 2020  |   Pubmed ID: 32021209
• Expectations and Anxieties of Duchenne Muscular Dystrophy Patients and Their Families During the First-in-human Clinical Trial of NS-065/NCNP-01
  Brain & Development. Apr, 2020  |   Pubmed ID: 31992520
• Clinical Practice with Steroid Therapy for Duchenne Muscular Dystrophy: An Expert Survey in Asia and Oceania
  Brain & Development. Mar, 2020  |   Pubmed ID: 31980267
• Early Phase 2 Trial of TAS-205 in Patients with Duchenne Muscular Dystrophy
  Annals of Clinical and Translational Neurology. 02, 2020  |   Pubmed ID: 31957953
• [Study of Care Practices for Patients with Myotonic Dystrophy in Japan-Nationwide Patient Survey]
  Rinsho Shinkeigaku = Clinical Neurology. Feb, 2020  |   Pubmed ID: 31956156
• [Study of Medical Practices for Patients with Myotonic Dystrophy in Japan-Nationwide Specialist Survey]
  Rinsho Shinkeigaku = Clinical Neurology. Feb, 2020  |   Pubmed ID: 31956155
• Exon Skipping Induced by Nonsense/frameshift Mutations in DMD Gene Results in Becker Muscular Dystrophy
  Human Genetics. Feb, 2020  |   Pubmed ID: 31919629
• Renal Dysfunction Can Occur in Advanced-stage Duchenne Muscular Dystrophy
  Muscle & Nerve. 02, 2020  |   Pubmed ID: 31725904
• The Effect of the Guidelines for Management of Febrile Seizures 2015 on Clinical Practices: Nationwide Survey in Japan
  Brain & Development. Jan, 2020  |   Pubmed ID: 31604594
• Alteration of the Anatomical Covariance Network After Corpus Callosotomy in Pediatric Intractable Epilepsy
  PloS One. 2019  |   Pubmed ID: 31805047
• Schaaf-Yang Syndrome Shows a Prader-Willi Syndrome-like Phenotype During Infancy
  Orphanet Journal of Rare Diseases. 12, 2019  |   Pubmed ID: 31791363
• Psychiatric and Neurodevelopmental Aspects of Becker Muscular Dystrophy
  Neuromuscular Disorders : NMD. 12, 2019  |   Pubmed ID: 31708335
• [Study of Medical Management for Patients with Duchenne Muscular Dystrophy in Japan: What Was Changed by a Practical Guideline]
  Rinsho Shinkeigaku = Clinical Neurology. Nov, 2019  |   Pubmed ID: 31656267
• Childhood-onset Cerebellar Ataxia in Japan: A Questionnaire-based Survey
  Brain and Behavior. 10, 2019  |   Pubmed ID: 31469254
• Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report
  Neuropediatrics. 12, 2019  |   Pubmed ID: 31370080
• Single-fiber Electromyography-based Diagnosis of CACNA1A Mutation in Children: A Potential Role of the Electrodiagnosis in the Era of Whole Exome Sequencing
  Brain & Development. Nov, 2019  |   Pubmed ID: 31288946
• COX6A2 Variants Cause a Muscle-specific Cytochrome C Oxidase Deficiency
  Annals of Neurology. 08, 2019  |   Pubmed ID: 31155743
• Modelling Duchenne Muscular Dystrophy in MYOD1-converted Urine-derived Cells Treated with 3-deazaneplanocin A Hydrochloride
  Scientific Reports. 03, 2019  |   Pubmed ID: 30846748
• Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches
  Journal of Personalized Medicine. Jan, 2019  |   Pubmed ID: 30621068
• A Nationwide Survey on Danon Disease in Japan
  International Journal of Molecular Sciences. Nov, 2018  |   Pubmed ID: 30413001
• NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy
  Molecular Therapy. Nucleic Acids. Dec, 2018  |   Pubmed ID: 30388618
• A Novel Mutation Identified in a Japanese Patient with LMNA-associated Congenital Muscular Dystrophy
  Human Genome Variation. 2018  |   Pubmed ID: 30083363
• Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders
  Muscle & Nerve. 12, 2018  |   Pubmed ID: 30019482
• Urinary Prostaglandin Metabolites As Duchenne Muscular Dystrophy Progression Markers
  Brain & Development. Nov, 2018  |   Pubmed ID: 30006121
• Exon Skipping for Duchenne Muscular Dystrophy: a Systematic Review and Meta-analysis
  Orphanet Journal of Rare Diseases. 06, 2018  |   Pubmed ID: 29907124
• Seizure Imitators Monitored Using Video-EEG in Children with Intellectual Disabilities
  Epilepsy & Behavior : E&B. 07, 2018  |   Pubmed ID: 29791879
• Interpretation of Acid α-glucosidase Activity in Creatine Kinase Elevation: A Case of Becker Muscular Dystrophy
  Brain & Development. Oct, 2018  |   Pubmed ID: 29778277
• CO-sensitive TRNA Modification Associated with Human Mitochondrial Disease
  Nature Communications. 05, 2018  |   Pubmed ID: 29760464
• Systemic Administration of the Antisense Oligonucleotide NS-065/NCNP-01 for Skipping of Exon 53 in Patients with Duchenne Muscular Dystrophy
  Science Translational Medicine. 04, 2018  |   Pubmed ID: 29669851
• Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation
  Journal of Neuromuscular Diseases. 2018  |   Pubmed ID: 29614690
• A Randomized Placebo-controlled Phase 3 Trial of an Antisense Oligonucleotide, Drisapersen, in Duchenne Muscular Dystrophy
  Neuromuscular Disorders : NMD. 01, 2018  |   Pubmed ID: 29203355
• Duchenne Muscular Dystrophy with Platypnea-orthodeoxia from Chilaiditi Syndrome
  Brain & Development. Apr, 2018  |   Pubmed ID: 29157800
• Cardiac Conduction Disturbances and Aging in Patients with Duchenne Muscular Dystrophy
  Medicine. Oct, 2017  |   Pubmed ID: 29049249
• Childhood-onset Anti-3-hydroxy-3-methylglutaryl-coenzyme A Reductase (anti-HMGCR) Necrotizing Myopathy Needs to Be Distinguished from Muscular Dystrophy: A Case Study
  Rinsho Shinkeigaku = Clinical Neurology. 10, 2017  |   Pubmed ID: 28966227
• Mutations Abrogate Iron-sulfur Cluster Assembly Leading to Cavitating Leukoencephalopathy
  Neurology. Genetics. Oct, 2017  |   Pubmed ID: 28913435
• Comprehensive Analysis for Genetic Diagnosis of Dystrophinopathies in Japan
  Orphanet Journal of Rare Diseases. 08, 2017  |   Pubmed ID: 28859693
• A Comparative Study of Care Practices for Young Boys with Duchenne Muscular Dystrophy Between Japan and European Countries: Implications of Early Diagnosis
  Neuromuscular Disorders : NMD. Oct, 2017  |   Pubmed ID: 28807665
• Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status
  Stem Cells International. 2017  |   Pubmed ID: 28491099
• Duchenne Muscular Dystrophy in a Female with Compound Heterozygous Contiguous Exon Deletions
  Neuromuscular Disorders : NMD. Jun, 2017  |   Pubmed ID: 28434908
• Pediatric Necrotizing Myopathy Associated with Anti-3-hydroxy-3-methylglutaryl-coenzyme A Reductase Antibodies
  Rheumatology (Oxford, England). 02, 2017  |   Pubmed ID: 27818386
• Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant MiRNAs (miR-1, MiR-133a, and MiR-206) in C2C12 Myocytes and Mdx Mice
  PloS One. 2016  |   Pubmed ID: 27977725
• Clinical Trial Network for the Promotion of Clinical Research for Rare Diseases in Japan: Muscular Dystrophy Clinical Trial Network
  BMC Health Services Research. 07, 2016  |   Pubmed ID: 27401940
• Recent Advances in Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy: from Discovery to Clinical Trials
  American Journal of Translational Research. 2016  |   Pubmed ID: 27398133
• Long-term Outcomes of Steroid Therapy for Duchenne Muscular Dystrophy in Japan
  Brain & Development. Oct, 2016  |   Pubmed ID: 27112384
• Trends in Steroid Therapy for Duchenne Muscular Dystrophy in Japan
  Muscle & Nerve. Feb, 2016  |   Pubmed ID: 26910583
• The Long-term Health Impact and Potential Predictors of Cardiopulmonary Arrest in Patients with Childhood-onset Psychomotor Impairments
  Brain & Development. Apr, 2016  |   Pubmed ID: 26482602
• A Mild Case of Giant Axonal Neuropathy Without Central Nervous System Manifestation
  Brain & Development. Mar, 2016  |   Pubmed ID: 26381321
• De Novo KIF1A Mutations Cause Intellectual Deficit, Cerebellar Atrophy, Lower Limb Spasticity and Visual Disturbance
  Journal of Human Genetics. Dec, 2015  |   Pubmed ID: 26354034
• Treatable Renal Failure Found in Non-ambulatory Duchenne Muscular Dystrophy Patients
  Neuromuscular Disorders : NMD. Oct, 2015  |   Pubmed ID: 26298609
• Molecular Pathomechanisms and Cell-type-specific Disease Phenotypes of MELAS Caused by Mutant Mitochondrial TRNA(Trp)
  Acta Neuropathologica Communications. Aug, 2015  |   Pubmed ID: 26297375
• Prognostic Impact of Venous Thromboembolism in Patients with Duchenne Muscular Dystrophy: Prospective Multicenter 5-year Cohort Study
  International Journal of Cardiology. Jul, 2015  |   Pubmed ID: 25965627
• A Family of Distal Arthrogryposis Type 5 Due to a Novel PIEZO2 Mutation
  American Journal of Medical Genetics. Part A. May, 2015  |   Pubmed ID: 25712306
• Episodic Tremors Representing Cortical Myoclonus Are Characteristic in Angelman Syndrome Due to UBE3A Mutations
  Brain & Development. Feb, 2015  |   Pubmed ID: 24796722
• Complex Regional Pain Syndrome in a 15-year-old Girl Successfully Treated with Continuous Epidural Anesthesia
  Brain & Development. Jan, 2015  |   Pubmed ID: 24720949
• Brain Magnetic Resonance Imaging Findings and Auditory Brainstem Response in a Child with Spastic Paraplegia 2 Due to a PLP1 Splice Site Mutation
  Brain & Development. Jan, 2015  |   Pubmed ID: 24685771
• [Infrastructure for the Clinical Research of Muscular Dystrophies: Remudy and MDCTN]
  Rinshō Shinkeigaku = Clinical Neurology. 2014  |   Pubmed ID: 25519964
• Three Novel Serum Biomarkers, MiR-1, MiR-133a, and MiR-206 for Limb-girdle Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy, and Becker Muscular Dystrophy
  Environmental Health and Preventive Medicine. Nov, 2014  |   Pubmed ID: 25150707
• A Nationwide Survey on Marinesco-Sjögren Syndrome in Japan
  Orphanet Journal of Rare Diseases. Apr, 2014  |   Pubmed ID: 24755310
• Pontine Malformation, Undecussated Pyramidal Tracts, and Regional Polymicrogyria: a New Syndrome
  Pediatric Neurology. Apr, 2014  |   Pubmed ID: 24507697
• Persistent Verbal and Behavioral Deficits After Resection of the Left Supplementary Motor Area in Epilepsy Surgery
  Brain & Development. Jan, 2014  |   Pubmed ID: 24370003
• Hypophosphatemia is a Common Complication in Severely Disabled Individuals with Neurological Disorders and is Caused by Infection, Refeeding and Fanconi Syndrome
  Brain & Development. Nov, 2014  |   Pubmed ID: 24360095
• MELAS Phenotype Associated with M.3302A>G Mutation in Mitochondrial TRNA(Leu(UUR)) Gene
  Brain & Development. Feb, 2014  |   Pubmed ID: 23582502
• Characteristics of Japanese Duchenne and Becker Muscular Dystrophy Patients in a Novel Japanese National Registry of Muscular Dystrophy (Remudy)
  Orphanet Journal of Rare Diseases. 2013  |   Pubmed ID: 23601510
• Rapidly Progressive Scoliosis and Respiratory Deterioration in Ullrich Congenital Muscular Dystrophy
  Journal of Neurology, Neurosurgery, and Psychiatry. Sep, 2013  |   Pubmed ID: 23572247
• Congenital Hypomyelinating Neuropathy Attributable to a De Novo P.Asp61Asn Mutation of the Myelin Protein Zero Gene
  Pediatric Neurology. Jan, 2013  |   Pubmed ID: 23290023
• Hypoalbuminemia in Early Onset Dentatorubral-pallidoluysian Atrophy Due to Leakage of Albumin in Multiple Organs
  Journal of Neurology. May, 2013  |   Pubmed ID: 23263592
• Unusual Exocrine Complication of Pancreatitis in Mitochondrial Disease
  Brain & Development. Aug, 2013  |   Pubmed ID: 23182449
• Late-onset Epilepsy in Children with Acute Febrile Encephalopathy with Prolonged Convulsions: A Clinical and Encephalographic Study
  Brain & Development. Jun, 2013  |   Pubmed ID: 22982002
• Peripheral Nerve Abnormalities in Pediatric Patients with Spinal Muscular Atrophy
  Brain & Development. Feb, 2013  |   Pubmed ID: 22512990
• [Effect of Neurotropin on Chronic Headaches in Children]
  No to Hattatsu = Brain and Development. Nov, 2012  |   Pubmed ID: 23240530
• [Clinical Points for Progressive Muscular Dystrophy - is Immobobilization the Only Concern?]
  Rinsho Shinkeigaku = Clinical Neurology. 2012  |   Pubmed ID: 23196447
• Importance of CAG Repeat Length in Childhood-onset Dentatorubral-pallidoluysian Atrophy
  Journal of Neurology. Nov, 2012  |   Pubmed ID: 22527233
• A Pediatric Patient with Myopathy Associated with Antibodies to a Signal Recognition Particle
  Brain & Development. Nov, 2012  |   Pubmed ID: 22436377
• A Case of Bulbar Type Cerebral Palsy: Representative Symptoms of Dorsal Brainstem Syndrome
  Brain & Development. Oct, 2012  |   Pubmed ID: 22306266
• 8p Deletion and 9p Duplication in Two Children with Electrical Status Epilepticus in Sleep Syndrome
  Seizure. May, 2012  |   Pubmed ID: 22300624
• A Novel Mutation in the LMNA Gene Causes Congenital Muscular Dystrophy with Dropped Head and Brain Involvement
  Neuromuscular Disorders : NMD. Feb, 2012  |   Pubmed ID: 22240398
• Efficacy and Tolerance of Gastrostomy Feeding in Japanese Muscular Dystrophy Patients
  Brain & Development. Oct, 2012  |   Pubmed ID: 22204944
• Muscle Glycogen Storage Disease 0 Presenting Recurrent Syncope with Weakness and Myalgia
  Neuromuscular Disorders : NMD. Feb, 2012  |   Pubmed ID: 21958591
• Decreased Resting Energy Expenditure in Patients with Duchenne Muscular Dystrophy
  Brain & Development. Mar, 2012  |   Pubmed ID: 21632191
• [A Case of Neurocutaneous Melanosis Associated with Focal Cortical Dysplasia]
  No to Hattatsu = Brain and Development. Jul, 2011  |   Pubmed ID: 21800695
• Late-onset Mental Deterioration and Fluctuating Dystonia in a Female Patient with a Truncating MECP2 Mutation
  Journal of the Neurological Sciences. Sep, 2011  |   Pubmed ID: 21722922
• Effects of Acetazolamide on Epileptic Apnea in Migrating Partial Seizures in Infancy
  Epilepsy Research. Sep, 2011  |   Pubmed ID: 21636251
• Inflammatory Changes in Infantile-onset LMNA-associated Myopathy
  Neuromuscular Disorders : NMD. Aug, 2011  |   Pubmed ID: 21632249
• Extramuscular Manifestations in Children with Severe Congenital Myopathy Due to ACTA1 Gene Mutations
  Neuromuscular Disorders : NMD. Jul, 2011  |   Pubmed ID: 21514153
• A Case of Congenital Axonal Neuropathy Associated with West Syndrome
  Brain & Development. Sep, 2011  |   Pubmed ID: 21211919
• Multiple Band Frequency Analysis in a Child of Medial Temporal Lobe Ganglioglioma
  Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery. Mar, 2011  |   Pubmed ID: 20878525
• CD4+ CD25(high) Regulatory T Cell in Childhood Ocular Myasthenia Gravis
  Brain & Development. May, 2011  |   Pubmed ID: 20797828
• Polymicrogyria and Infantile Spasms in a Patient with 1p36 Deletion Syndrome
  Brain & Development. May, 2011  |   Pubmed ID: 20708863
• Effects of Low-dose Hydrochlorothiazide on Urolithiasis and Bone Metabolism in Severely Disabled Individuals: a Pilot Study
  Brain & Development. May, 2011  |   Pubmed ID: 20702052
• Acute Autonomic Sensory and Motor Neuropathy Associated with Parvovirus B19 Infection
  Brain & Development. Feb, 2011  |   Pubmed ID: 20395090
• Reversible Infantile Respiratory Chain Deficiency: a Clinical and Molecular Study
  Annals of Neurology. Dec, 2010  |   Pubmed ID: 21194154
• Bromoderma in a Patient with Migrating Partial Seizures in Infancy
  Epilepsy Research. Oct, 2010  |   Pubmed ID: 20674275
• A Case of Intraneural Perineurioma Presenting with Monomelic Atrophy in a Child
  Brain & Development. Apr, 2010  |   Pubmed ID: 20004070
• Central Nervous System and Muscle Involvement in an Adolescent Patient with Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency
  Brain & Development. Sep, 2010  |   Pubmed ID: 19783111
• Thiamine-deficient Encephalopathy Due to Excessive Intake of Isotonic Drink or Overstrict Diet Therapy in Japanese Children
  Brain & Development. Aug, 2010  |   Pubmed ID: 19783110
• Non-convulsive Status Epilepticus and Audiogenic Seizures Complicating a Patient with Asymmetrical Epileptic Spasms
  Brain & Development. Aug, 2010  |   Pubmed ID: 19735986
• Postnatal Evolution of Cortical Malformation in the "non-affected" Hemisphere of Hemimegalencephaly
  Brain & Development. May, 2010  |   Pubmed ID: 19345027
• Hemiconvulsion-hemiplegia Syndrome in a Patient with Severe Myoclonic Epilepsy in Infancy
  Epilepsia. Sep, 2009  |   Pubmed ID: 19563349
• Nemaline (actin) Myopathy with Myofibrillar Dysgenesis and Abnormal Ossification
  Neuromuscular Disorders : NMD. Jul, 2009  |   Pubmed ID: 19553121
• [Serious Complications of Intraventricular Interferon-alpha and Ribavirin in the Treatment of Subacute Sclerosing Panencephalitis]
  No to Hattatsu = Brain and Development. May, 2009  |   Pubmed ID: 19517795
• Different Effects of Novel MtDNA G3242A and G3244A Base Changes Adjacent to a Common A3243G Mutation in Patients with Mitochondrial Disorders
  Mitochondrion. Apr, 2009  |   Pubmed ID: 19460299
• Startle Epilepsy Associated with Gait-induced Seizures: Pathomechanism Analysis Using EEG, MEG, and PET Studies
  Epilepsia. May, 2009  |   Pubmed ID: 19400869
• Reassessment of Phenytoin for Treatment of Late Stage Progressive Myoclonus Epilepsy Complicated with Status Epilepticus
  Epilepsy Research. Apr, 2009  |   Pubmed ID: 19268538
• Nuclear Changes in Skeletal Muscle Extend to Satellite Cells in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy/limb-girdle Muscular Dystrophy 1B
  Neuromuscular Disorders : NMD. Jan, 2009  |   Pubmed ID: 19070492
• Treatment of Epilepsy in Severely Disabled Children with Bilateral Brain Malformations
  Journal of the Neurological Sciences. Feb, 2009  |   Pubmed ID: 19036389
• Expansion of the First Polyalanine Tract of the ARX Gene in a Boy Presenting with Generalized Dystonia in the Absence of Infantile Spasms
  Brain & Development. Jun, 2009  |   Pubmed ID: 18823727
• Hyperkinetic Movement Disorder in a Child Treated by Globus Pallidus Stimulation
  Brain & Development. Jun, 2009  |   Pubmed ID: 18801630
• [Three Infantile Cases of Temporal Lobe Epilepsy Presenting As Apnea]
  No to Hattatsu = Brain and Development. Jan, 2008  |   Pubmed ID: 18210861
• [A Patient with 22q13 Deletion Syndrome Accompanied by Epilepsy with Continuous Spike-waves During Slow Wave Sleep (CSWS) and Cerebral Infarction]
  No to Hattatsu = Brain and Development. Nov, 2007  |   Pubmed ID: 18027568
• [Recurrent Fever Related to Dantrolene Sodium in a Girl with Sequelae of Acute Encephalopathy]
  No to Hattatsu = Brain and Development. Nov, 2007  |   Pubmed ID: 18027566
• [A Case of Hemimegalencephaly with Slowly Progressive Expansion]
  No to Hattatsu = Brain and Development. Nov, 2007  |   Pubmed ID: 18027564
• [A Case of Möbius Syndrome Presenting with Symptoms of Severe Infantile Form of Congenital Muscular Disorder]
  No to Hattatsu = Brain and Development. Jan, 2007  |   Pubmed ID: 17228821
• [Two Boys with Non-progressive Unilateral Atrophy of the Calf Muscles]
  No to Hattatsu = Brain and Development. Nov, 2006  |   Pubmed ID: 17094567
• [Pleural Effusion Associated with Long-term Dantrolene Administration in Three Patients with Severe Motor and Intellectual Disabilities]
  No to Hattatsu = Brain and Development. Jan, 2006  |   Pubmed ID: 16447795
• A Novel MtDNA C11777A Mutation in Leigh Syndrome
  Mitochondrion. Mar, 2003  |   Pubmed ID: 16120329
• A Double Mutation (G11778A and G12192A) in Mitochondrial DNA Associated with Leber's Hereditary Optic Neuropathy and Cardiomyopathy
  Journal of Human Genetics. 2003  |   Pubmed ID: 12560876
• [Mitochondrial Disease]
  Ryoikibetsu Shokogun Shirizu. 2002  |   Pubmed ID: 12483856
• A Novel D104G Mutation in the Adenine Nucleotide Translocator 1 Gene in Autosomal Dominant Progressive External Ophthalmoplegia Patients with Mitochondrial DNA with Multiple Deletions
  Annals of Neurology. May, 2002  |   Pubmed ID: 12112115
• [Complex I Deficiency Due to Mutations in Nuclear-encoded Subunit Genes]
  Nihon Rinsho. Japanese Journal of Clinical Medicine. Apr, 2002  |   Pubmed ID: 12013889
• [ANT1, Twinkle, POLG Mutation]
  Nihon Rinsho. Japanese Journal of Clinical Medicine. Apr, 2002  |   Pubmed ID: 12013885