Komaki Hirofumi | Department Of Child Neurology National Center Hospital For Mental Nervous And Disorders National Cen

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著作論文

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
Hyperkinetic movement disorder in a child treated by globus pallidus stimulation
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia
Surgical Treatment of a Case of Early Infantile Epileptic Encephalopathy with Suppression-Bursts Associated with Focal Cortical Dysplasia
Tremor and seizures associated with chronic manganese intoxication
Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy
Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene
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
Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly
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
Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
CD4^+ CD25^ regulatory T cell in childhood ocular myasthenia gravis
Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals : A pilot study
Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy
A case of congenital axonal neuropathy associated with West syndrome

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