Hirofumi Komaki Department of Child Neurology, National Center Hospital National Center of Neurology and Psychiatry Biography Publications Institution JoVE Articles Hirofumi Komaki has not added a biography. If you are Hirofumi Komaki and would like to personalize this page please email our Author Liaison for assistance. 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 Caractérisation de l’efficacité de saut d’Exon dans les échantillons de patients de DMD dans les essais cliniques d’oligonucléotides d’Antisense Joel Z. Nordin*1, Yoshitaka Mizobe*1, Harumasa Nakamura2, Hirofumi Komaki3, Shin'ichi Takeda1, Yoshitsugu Aoki1 1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 2Clinical Research Support Office, Translational Medical Center, National Center of Neurology and Psychiatry, 3Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry JoVE 60672 Medicine
Caractérisation de l’efficacité de saut d’Exon dans les échantillons de patients de DMD dans les essais cliniques d’oligonucléotides d’Antisense Joel Z. Nordin*1, Yoshitaka Mizobe*1, Harumasa Nakamura2, Hirofumi Komaki3, Shin'ichi Takeda1, Yoshitsugu Aoki1 1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 2Clinical Research Support Office, Translational Medical Center, National Center of Neurology and Psychiatry, 3Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry JoVE 60672 Medicine
