Department of Child Neurology,
National Center Hospital,
Department of Child Neurology, National Center Hospital
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[ANT1, twinkle, POLG mutation].
Nihon rinsho. Japanese journal of clinical medicine Apr, 2002 | Pubmed ID: 12013885
[Complex I deficiency due to mutations in nuclear-encoded subunit genes].
Nihon rinsho. Japanese journal of clinical medicine Apr, 2002 | Pubmed ID: 12013889
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
[Mitochondrial disease].
Ryoikibetsu shokogun shirizu , 2002 | Pubmed ID: 12483856
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
A novel mtDNA C11777A mutation in Leigh syndrome.
Mitochondrion Mar, 2003 | Pubmed ID: 16120329
[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
[Two boys with non-progressive unilateral atrophy of the calf muscles].
No to hattatsu = Brain and development Nov, 2006 | Pubmed ID: 17094567
[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
[A case of hemimegalencephaly with slowly progressive expansion].
No to hattatsu = Brain and development Nov, 2007 | Pubmed ID: 18027564
[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 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
[Three infantile cases of temporal lobe epilepsy presenting as apnea].
No to hattatsu = Brain and development Jan, 2008 | Pubmed ID: 18210861
Hyperkinetic movement disorder in a child treated by globus pallidus stimulation.
Brain & development Jun, 2009 | Pubmed ID: 18801630
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
Treatment of epilepsy in severely disabled children with bilateral brain malformations.
Journal of the neurological sciences Feb, 2009 | Pubmed ID: 19036389
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
Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus.
Epilepsy research Apr, 2009 | Pubmed ID: 19268538
Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly.
Brain & development May, 2010 | Pubmed ID: 19345027
Startle epilepsy associated with gait-induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies.
Epilepsia May, 2009 | Pubmed ID: 19400869
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
[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
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
Neuromuscular disorders : NMD Jul, 2009 | Pubmed ID: 19553121
Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.
Epilepsia Sep, 2009 | Pubmed ID: 19563349
Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms.
Brain & development Aug, 2010 | Pubmed ID: 19735986
Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children.
Brain & development Aug, 2010 | Pubmed ID: 19783110
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
A case of intraneural perineurioma presenting with monomelic atrophy in a child.
Brain & development Apr, 2010 | Pubmed ID: 20004070
Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection.
Brain & development Feb, 2011 | Pubmed ID: 20395090
Bromoderma in a patient with migrating partial seizures in infancy.
Epilepsy research Oct, 2010 | Pubmed ID: 20674275
Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals: a pilot study.
Brain & development May, 2011 | Pubmed ID: 20702052
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.
Brain & development May, 2011 | Pubmed ID: 20708863
CD4+ CD25(high) regulatory T cell in childhood ocular myasthenia gravis.
Brain & development May, 2011 | Pubmed ID: 20797828
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
Reversible infantile respiratory chain deficiency: a clinical and molecular study.
Annals of neurology Dec, 2010 | Pubmed ID: 21194154
A case of congenital axonal neuropathy associated with West syndrome.
Brain & development Sep, 2011 | Pubmed ID: 21211919
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
Neuromuscular disorders : NMD Jul, 2011 | Pubmed ID: 21514153
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy.
Brain & development Mar, 2012 | Pubmed ID: 21632191
Inflammatory changes in infantile-onset LMNA-associated myopathy.
Neuromuscular disorders : NMD Aug, 2011 | Pubmed ID: 21632249
Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy.
Epilepsy research Sep, 2011 | Pubmed ID: 21636251
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
[A case of neurocutaneous melanosis associated with focal cortical dysplasia].
No to hattatsu = Brain and development Jul, 2011 | Pubmed ID: 21800695
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.
Neuromuscular disorders : NMD Feb, 2012 | Pubmed ID: 21958591
Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients.
Brain & development Oct, 2012 | Pubmed ID: 22204944
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
8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome.
Seizure May, 2012 | Pubmed ID: 22300624
A case of bulbar type cerebral palsy: representative symptoms of dorsal brainstem syndrome.
Brain & development Oct, 2012 | Pubmed ID: 22306266
A pediatric patient with myopathy associated with antibodies to a signal recognition particle.
Brain & development Nov, 2012 | Pubmed ID: 22436377
Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy.
Brain & development Feb, 2013 | Pubmed ID: 22512990
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.
Journal of neurology Nov, 2012 | Pubmed ID: 22527233
Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study.
Brain & development Jun, 2013 | Pubmed ID: 22982002
Unusual exocrine complication of pancreatitis in mitochondrial disease.
Brain & development Aug, 2013 | Pubmed ID: 23182449
[Clinical points for progressive muscular dystrophy - is immobobilization the only concern?].
Rinsho shinkeigaku = Clinical neurology , 2012 | Pubmed ID: 23196447
[Effect of neurotropin on chronic headaches in children].
No to hattatsu = Brain and development Nov, 2012 | Pubmed ID: 23240530
Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs.
Journal of neurology May, 2013 | Pubmed ID: 23263592
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
Pediatric neurology Jan, 2013 | Pubmed ID: 23290023
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
Journal of neurology, neurosurgery, and psychiatry Sep, 2013 | Pubmed ID: 23572247
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
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
Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery.
Brain & development Jan, 2014 | Pubmed ID: 24370003
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome.
Pediatric neurology Apr, 2014 | Pubmed ID: 24507697
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
Complex regional pain syndrome in a 15-year-old girl successfully treated with continuous epidural anesthesia.
Brain & development Jan, 2015 | Pubmed ID: 24720949
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
Orphanet journal of rare diseases Apr, 2014 | Pubmed ID: 24755310
Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.
Brain & development Feb, 2015 | Pubmed ID: 24796722
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
[Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN].
Rinshō shinkeigaku = Clinical neurology , 2014 | Pubmed ID: 25519964
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
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
Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).
Acta neuropathologica communications Aug, 2015 | Pubmed ID: 26297375
Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients.
Neuromuscular disorders : NMD Oct, 2015 | Pubmed ID: 26298609
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
Journal of human genetics Dec, 2015 | Pubmed ID: 26354034
A mild case of giant axonal neuropathy without central nervous system manifestation.
Brain & development Mar, 2016 | Pubmed ID: 26381321
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
Trends in steroid therapy for Duchenne muscular dystrophy in Japan.
Muscle & nerve Feb, 2016 | Pubmed ID: 26910583
Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan.
Brain & development Oct, 2016 | Pubmed ID: 27112384
Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials.
American journal of translational research , 2016 | Pubmed ID: 27398133
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
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
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.
Neuromuscular disorders : NMD Jun, 2017 | Pubmed ID: 28434908
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
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
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Orphanet journal of rare diseases 08, 2017 | Pubmed ID: 28859693
mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
Neurology. Genetics Oct, 2017 | Pubmed ID: 28913435
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
Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy.
Medicine Oct, 2017 | Pubmed ID: 29049249
Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome.
Brain & development Apr, 2018 | Pubmed ID: 29157800
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 01, 2018 | Pubmed ID: 29203355
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
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
CO-sensitive tRNA modification associated with human mitochondrial disease.
Nature communications 05, 2018 | Pubmed ID: 29760464
Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.
Brain & development Oct, 2018 | Pubmed ID: 29778277
Seizure imitators monitored using video-EEG in children with intellectual disabilities.
Epilepsy & behavior : E&B 07, 2018 | Pubmed ID: 29791879
Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis.
Orphanet journal of rare diseases 06, 2018 | Pubmed ID: 29907124
Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers.
Brain & development Nov, 2018 | Pubmed ID: 30006121
Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders.
Muscle & nerve 12, 2018 | Pubmed ID: 30019482
A novel mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.
Human genome variation , 2018 | Pubmed ID: 30083363
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 Nationwide Survey on Danon Disease in Japan.
International journal of molecular sciences Nov, 2018 | Pubmed ID: 30413001
Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches.
Journal of personalized medicine Jan, 2019 | Pubmed ID: 30621068
Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride.
Scientific reports 03, 2019 | Pubmed ID: 30846748
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Annals of neurology 08, 2019 | Pubmed ID: 31155743
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
Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report.
Neuropediatrics 12, 2019 | Pubmed ID: 31370080
Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey.
Brain and behavior 10, 2019 | Pubmed ID: 31469254
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
[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
Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy.
Neuromuscular disorders : NMD 12, 2019 | Pubmed ID: 31708335
Renal dysfunction can occur in advanced-stage Duchenne muscular dystrophy.
Muscle & nerve 02, 2020 | Pubmed ID: 31725904
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Orphanet journal of rare diseases 12, 2019 | Pubmed ID: 31791363
Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy.
PloS one , 2019 | Pubmed ID: 31805047
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
Human genetics Feb, 2020 | Pubmed ID: 31919629
[Study of medical practices for patients with myotonic dystrophy in Japan-Nationwide specialist survey].
Rinsho shinkeigaku = Clinical neurology Feb, 2020 | Pubmed ID: 31956155
[Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey].
Rinsho shinkeigaku = Clinical neurology Feb, 2020 | Pubmed ID: 31956156
Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy.
Annals of clinical and translational neurology 02, 2020 | Pubmed ID: 31957953
Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania.
Brain & development Mar, 2020 | Pubmed ID: 31980267
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
Left Ventricular End-Diastolic Diameter and Cardiac Mortality in Duchenne Muscular Dystrophy.
Neuropsychiatric disease and treatment , 2020 | Pubmed ID: 32021209
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
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.
Brain & development Jun, 2020 | Pubmed ID: 32173090
Association of Dermatomyositis Sine Dermatitis With Anti-Nuclear Matrix Protein 2 Autoantibodies.
JAMA neurology Jul, 2020 | Pubmed ID: 32310254
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.
Neurology Jul, 2020 | Pubmed ID: 32646962
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
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