Hirofumi Komaki

Department of Child Neurology, National Center of Neurology and Psychiatry

Affiliated withNational Center of Neurology and Psychiatry

Research Area

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2020

Other Publications

Article	Year
[ANT1, twinkle, POLG mutation]. Nihon rinsho. Japanese journal of clinical medicine\| PubMed ID: 12013885	2002
[Complex I deficiency due to mutations in nuclear-encoded subunit genes]. Nihon rinsho. Japanese journal of clinical medicine\| PubMed ID: 12013889	2002
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\| PubMed ID: 12112115	2002
[Mitochondrial disease]. Ryoikibetsu shokogun shirizu\| PubMed ID: 12483856	2002
A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy. Journal of human genetics\| PubMed ID: 12560876	2003
A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion\| PubMed ID: 16120329	2003
[Pleural effusion associated with long-term dantrolene administration in three patients with severe motor and intellectual disabilities]. No to hattatsu = Brain and development\| PubMed ID: 16447795	2006
[Two boys with non-progressive unilateral atrophy of the calf muscles]. No to hattatsu = Brain and development\| PubMed ID: 17094567	2006
[A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder]. No to hattatsu = Brain and development\| PubMed ID: 17228821	2007
[A case of hemimegalencephaly with slowly progressive expansion]. No to hattatsu = Brain and development\| PubMed ID: 18027564	2007
[Recurrent fever related to dantrolene sodium in a girl with sequelae of acute encephalopathy]. No to hattatsu = Brain and development\| PubMed ID: 18027566	2007
[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\| PubMed ID: 18027568	2007
[Three infantile cases of temporal lobe epilepsy presenting as apnea]. No to hattatsu = Brain and development\| PubMed ID: 18210861	2008
Hyperkinetic movement disorder in a child treated by globus pallidus stimulation. Brain & development\| PubMed ID: 18801630	2009
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\| PubMed ID: 18823727	2009
Treatment of epilepsy in severely disabled children with bilateral brain malformations. Journal of the neurological sciences\| PubMed ID: 19036389	2009
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. Neuromuscular disorders : NMD\| PubMed ID: 19070492	2009
Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus. Epilepsy research\| PubMed ID: 19268538	2009
Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly. Brain & development\| PubMed ID: 19345027	2010
Startle epilepsy associated with gait-induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies. Epilepsia\| PubMed ID: 19400869	2009
Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. Mitochondrion\| PubMed ID: 19460299	2009
[Serious complications of intraventricular interferon-alpha and ribavirin in the treatment of subacute sclerosing panencephalitis]. No to hattatsu = Brain and development\| PubMed ID: 19517795	2009
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. Neuromuscular disorders : NMD\| PubMed ID: 19553121	2009
Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy. Epilepsia\| PubMed ID: 19563349	2009
Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms. Brain & development\| PubMed ID: 19735986	2010
Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children. Brain & development\| PubMed ID: 19783110	2010
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Brain & development\| PubMed ID: 19783111	2010
A case of intraneural perineurioma presenting with monomelic atrophy in a child. Brain & development\| PubMed ID: 20004070	2010
Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection. Brain & development\| PubMed ID: 20395090	2011
Bromoderma in a patient with migrating partial seizures in infancy. Epilepsy research\| PubMed ID: 20674275	2010
Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals: a pilot study. Brain & development\| PubMed ID: 20702052	2011
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. Brain & development\| PubMed ID: 20708863	2011
CD4+ CD25(high) regulatory T cell in childhood ocular myasthenia gravis. Brain & development\| PubMed ID: 20797828	2011
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\| PubMed ID: 20878525	2011
Reversible infantile respiratory chain deficiency: a clinical and molecular study. Annals of neurology\| PubMed ID: 21194154	2010
A case of congenital axonal neuropathy associated with West syndrome. Brain & development\| PubMed ID: 21211919	2011
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. Neuromuscular disorders : NMD\| PubMed ID: 21514153	2011
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. Brain & development\| PubMed ID: 21632191	2012
Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscular disorders : NMD\| PubMed ID: 21632249	2011
Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy. Epilepsy research\| PubMed ID: 21636251	2011
Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation. Journal of the neurological sciences\| PubMed ID: 21722922	2011
[A case of neurocutaneous melanosis associated with focal cortical dysplasia]. No to hattatsu = Brain and development\| PubMed ID: 21800695	2011
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia. Neuromuscular disorders : NMD\| PubMed ID: 21958591	2012
Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients. Brain & development\| PubMed ID: 22204944	2012
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Neuromuscular disorders : NMD\| PubMed ID: 22240398	2012
8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome. Seizure\| PubMed ID: 22300624	2012
A case of bulbar type cerebral palsy: representative symptoms of dorsal brainstem syndrome. Brain & development\| PubMed ID: 22306266	2012
A pediatric patient with myopathy associated with antibodies to a signal recognition particle. Brain & development\| PubMed ID: 22436377	2012
Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy. Brain & development\| PubMed ID: 22512990	2013
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy. Journal of neurology\| PubMed ID: 22527233	2012
Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study. Brain & development\| PubMed ID: 22982002	2013
Unusual exocrine complication of pancreatitis in mitochondrial disease. Brain & development\| PubMed ID: 23182449	2013
[Clinical points for progressive muscular dystrophy - is immobobilization the only concern?]. Rinsho shinkeigaku = Clinical neurology\| PubMed ID: 23196447	2012
[Effect of neurotropin on chronic headaches in children]. No to hattatsu = Brain and development\| PubMed ID: 23240530	2012
Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs. Journal of neurology\| PubMed ID: 23263592	2013
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene. Pediatric neurology\| PubMed ID: 23290023	2013
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. Journal of neurology, neurosurgery, and psychiatry\| PubMed ID: 23572247	2013
MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene. Brain & development\| PubMed ID: 23582502	2014
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy). Orphanet journal of rare diseases\| PubMed ID: 23601510	2013
Hypophosphatemia is a common complication in severely disabled individuals with neurological disorders and is caused by infection, refeeding and Fanconi syndrome. Brain & development\| PubMed ID: 24360095	2014
Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery. Brain & development\| PubMed ID: 24370003	2014
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Pediatric neurology\| PubMed ID: 24507697	2014
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\| PubMed ID: 24685771	2015
Complex regional pain syndrome in a 15-year-old girl successfully treated with continuous epidural anesthesia. Brain & development\| PubMed ID: 24720949	2015
A nationwide survey on Marinesco-Sjögren syndrome in Japan. Orphanet journal of rare diseases\| PubMed ID: 24755310	2014
Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations. Brain & development\| PubMed ID: 24796722	2015
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\| PubMed ID: 25150707	2014
[Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN]. Rinshō shinkeigaku = Clinical neurology\| PubMed ID: 25519964	2014
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. American journal of medical genetics. Part A\| PubMed ID: 25712306	2015
Prognostic impact of venous thromboembolism in patients with Duchenne muscular dystrophy: Prospective multicenter 5-year cohort study. International journal of cardiology\| PubMed ID: 25965627	2015
Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp). Acta neuropathologica communications\| PubMed ID: 26297375	2015
Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients. Neuromuscular disorders : NMD\| PubMed ID: 26298609	2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. Journal of human genetics\| PubMed ID: 26354034	2015
A mild case of giant axonal neuropathy without central nervous system manifestation. Brain & development\| PubMed ID: 26381321	2016
The long-term health impact and potential predictors of cardiopulmonary arrest in patients with childhood-onset psychomotor impairments. Brain & development\| PubMed ID: 26482602	2016
Trends in steroid therapy for Duchenne muscular dystrophy in Japan. Muscle & nerve\| PubMed ID: 26910583	2016
Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan. Brain & development\| PubMed ID: 27112384	2016
Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials. American journal of translational research\| PubMed ID: 27398133	2016
Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network. BMC health services research\| PubMed ID: 27401940	2016
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies. Rheumatology (Oxford, England)\| PubMed ID: 27818386	2017
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\| PubMed ID: 27977725	2016
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions. Neuromuscular disorders : NMD\| PubMed ID: 28434908	2017
Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status. Stem cells international\| PubMed ID: 28491099	2017
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\| PubMed ID: 28807665	2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet journal of rare diseases\| PubMed ID: 28859693	2017
mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurology. Genetics\| PubMed ID: 28913435	2017
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\| PubMed ID: 28966227	2017
Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy. Medicine\| PubMed ID: 29049249	2017
Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome. Brain & development\| PubMed ID: 29157800	2018
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Neuromuscular disorders : NMD\| PubMed ID: 29203355	2018
Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clin... Journal of neuromuscular diseases\| PubMed ID: 29614690	2018
Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy. Science translational medicine\| PubMed ID: 29669851	2018
CO-sensitive tRNA modification associated with human mitochondrial disease. Nature communications\| PubMed ID: 29760464	2018
Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy. Brain & development\| PubMed ID: 29778277	2018
Seizure imitators monitored using video-EEG in children with intellectual disabilities. Epilepsy & behavior : E&B\| PubMed ID: 29791879	2018
Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis. Orphanet journal of rare diseases\| PubMed ID: 29907124	2018
Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers. Brain & development\| PubMed ID: 30006121	2018
Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders. Muscle & nerve\| PubMed ID: 30019482	2018
A novel mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy. Human genome variation\| PubMed ID: 30083363	2018
NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy. Molecular therapy. Nucleic acids\| PubMed ID: 30388618	2018
A Nationwide Survey on Danon Disease in Japan. International journal of molecular sciences\| PubMed ID: 30413001	2018
Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches. Journal of personalized medicine\| PubMed ID: 30621068	2019
Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride. Scientific reports\| PubMed ID: 30846748	2019
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Annals of neurology\| PubMed ID: 31155743	2019
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\| PubMed ID: 31288946	2019
Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report. Neuropediatrics\| PubMed ID: 31370080	2019
Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey. Brain and behavior\| PubMed ID: 31469254	2019
The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan. Brain & development\| PubMed ID: 31604594	2020
[Study of medical management for patients with Duchenne muscular dystrophy in Japan: what was changed by a practical guideline]. Rinsho shinkeigaku = Clinical neurology\| PubMed ID: 31656267	2019
Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy. Neuromuscular disorders : NMD\| PubMed ID: 31708335	2019
Renal dysfunction can occur in advanced-stage Duchenne muscular dystrophy. Muscle & nerve\| PubMed ID: 31725904	2020
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy. Orphanet journal of rare diseases\| PubMed ID: 31791363	2019
Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy. PloS one\| PubMed ID: 31805047	2019
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. Human genetics\| PubMed ID: 31919629	2020
[Study of medical practices for patients with myotonic dystrophy in Japan-Nationwide specialist survey]. Rinsho shinkeigaku = Clinical neurology\| PubMed ID: 31956155	2020
[Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey]. Rinsho shinkeigaku = Clinical neurology\| PubMed ID: 31956156	2020
Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy. Annals of clinical and translational neurology\| PubMed ID: 31957953	2020
Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania. Brain & development\| PubMed ID: 31980267	2020
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\| PubMed ID: 31992520	2020
Left Ventricular End-Diastolic Diameter and Cardiac Mortality in Duchenne Muscular Dystrophy. Neuropsychiatric disease and treatment\| PubMed ID: 32021209	2020
Publisher Correction: Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride. Scientific reports\| PubMed ID: 32034287	2020
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis. Brain & development\| PubMed ID: 32173090	2020
Association of Dermatomyositis Sine Dermatitis With Anti-Nuclear Matrix Protein 2 Autoantibodies. JAMA neurology\| PubMed ID: 32310254	2020
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. Neurology\| PubMed ID: 32646962	2020