Hirofumi Komaki

[ANT1, twinkle, POLG mutation].

[Complex I deficiency due to mutations in nuclear-encoded subunit genes].

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

[Mitochondrial disease].

A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.

A novel mtDNA C11777A mutation in Leigh syndrome.

[Pleural effusion associated with long-term dantrolene administration in three patients with severe motor and intellectual disabilities].

[Two boys with non-progressive unilateral atrophy of the calf muscles].

[A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder].

[A case of hemimegalencephaly with slowly progressive expansion].

[Recurrent fever related to dantrolene sodium in a girl with sequelae of acute encephalopathy].

[A patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS) and cerebral infarction].

[Three infantile cases of temporal lobe epilepsy presenting as apnea].

Hyperkinetic movement disorder in a child treated by globus pallidus stimulation.

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.

Treatment of epilepsy in severely disabled children with bilateral brain malformations.

Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.

Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus.

Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly.

Startle epilepsy associated with gait-induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies.

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

[Serious complications of intraventricular interferon-alpha and ribavirin in the treatment of subacute sclerosing panencephalitis].

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.

Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms.

Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children.

Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

A case of intraneural perineurioma presenting with monomelic atrophy in a child.

Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection.

Bromoderma in a patient with migrating partial seizures in infancy.

Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals: a pilot study.

Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.

CD4+ CD25(high) regulatory T cell in childhood ocular myasthenia gravis.

Multiple band frequency analysis in a child of medial temporal lobe ganglioglioma.

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

A case of congenital axonal neuropathy associated with West syndrome.

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.

Decreased resting energy expenditure in patients with Duchenne muscular dystrophy.

Inflammatory changes in infantile-onset LMNA-associated myopathy.

Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy.

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.

[A case of neurocutaneous melanosis associated with focal cortical dysplasia].

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.

Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients.

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.

8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome.

A case of bulbar type cerebral palsy: representative symptoms of dorsal brainstem syndrome.

A pediatric patient with myopathy associated with antibodies to a signal recognition particle.

Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy.

Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.

Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study.

Unusual exocrine complication of pancreatitis in mitochondrial disease.

[Clinical points for progressive muscular dystrophy - is immobobilization the only concern?].

[Effect of neurotropin on chronic headaches in children].

Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs.

Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

Hypophosphatemia is a common complication in severely disabled individuals with neurological disorders and is caused by infection, refeeding and Fanconi syndrome.

Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery.

Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome.

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.

Complex regional pain syndrome in a 15-year-old girl successfully treated with continuous epidural anesthesia.

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.

[Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN].

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

Prognostic impact of venous thromboembolism in patients with Duchenne muscular dystrophy: Prospective multicenter 5-year cohort study.

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients.

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

A mild case of giant axonal neuropathy without central nervous system manifestation.

The long-term health impact and potential predictors of cardiopulmonary arrest in patients with childhood-onset psychomotor impairments.

Trends in steroid therapy for Duchenne muscular dystrophy in Japan.

Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan.

Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials.

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.

Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice.

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.

Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status.

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.

Childhood-onset anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy needs to be distinguished from muscular dystrophy: A case study.

Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy.

Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome.

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy.

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.

Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy.

CO-sensitive tRNA modification associated with human mitochondrial disease.

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.

Seizure imitators monitored using video-EEG in children with intellectual disabilities.

Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis.

Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers.

Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders.

A novel mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy.

A Nationwide Survey on Danon Disease in Japan.

Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches.

Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride.

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.

Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report.

Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey.

The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan.

[Study of medical management for patients with Duchenne muscular dystrophy in Japan: what was changed by a practical guideline].

Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy.

Renal dysfunction can occur in advanced-stage Duchenne muscular dystrophy.

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy.

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

[Study of medical practices for patients with myotonic dystrophy in Japan-Nationwide specialist survey].

[Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey].

Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy.

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania.

Expectations and anxieties of Duchenne muscular dystrophy patients and their families during the first-in-human clinical trial of NS-065/NCNP-01.

Left Ventricular End-Diastolic Diameter and Cardiac Mortality in Duchenne Muscular Dystrophy.

Publisher Correction: Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride.

A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.

Association of Dermatomyositis Sine Dermatitis With Anti-Nuclear Matrix Protein 2 Autoantibodies.

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.