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Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

Neurology, 2004-07, Vol.63 (2), p.329-334

2004

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A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

Neurology, 1999-11, Vol.53 (8), p.1749-1749

1999

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Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

Neurology, 2001-08, Vol.57 (4), p.703

2001

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Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan

Brain & development (Tokyo. 1979), 2010-06, Vol.32 (6), p.454-462

2010

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Valproate therapy does not deplete carnitine levels in otherwise healthy children

Pediatrics (Evanston), 1998-05, Vol.101 (5), p.E9-e9

1998

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Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

Epilepsia (Copenhagen), 2004-02, Vol.45 (2), p.140-148

2004

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Development of the Temporal Lobe in Infants and Children: Analysis by MR-Based Volumetry

American journal of neuroradiology : AJNR, 1999-04, Vol.20 (4), p.717-723

1999

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Effect of growth hormone on high plasma levels of glucagon-like peptide-1 (GLP-1) in hypophysectomized rats

Experimental and clinical endocrinology & diabetes, 2002-10, Vol.110 (7), p.361-363

2002

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The effectiveness of clonazepam on the rolandic discharges

Brain & development (Tokyo. 1979), 1997-06, Vol.19 (4), p.274-278

1997

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Clinicopathologic Correlation of C1q Nephropathy in Children

American journal of kidney diseases, 2006-03, Vol.47 (3), p.412-418

2006

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Late-onset type II glutaric aciduria with massive pericardial effusion associated with severe fatty liver

Acta pædiatrica (Oslo), 2000-07, Vol.89 (7), p.887-888

2000

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A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

Annals of neurology, 2000-06, Vol.47 (6), p.822-826

2000

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Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family

Epilepsia (Copenhagen), 2000-01, Vol.41 (1), p.52-58

2000

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Interleukin-6 in the cerebrospinal fluid of two patients with herpes zoster meningitis

No to hattatsu, 2001-05, Vol.33 (3), p.270

2001

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Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

Epilepsy research, 2002-01, Vol.48 (1-2), p.15-23

2002

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An Infant With a Mitochondrial A3243G Mutation Demonstrating the MELAS Phenotype

Pediatric neurology, 2006-03, Vol.34 (3), p.235-238

2006

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F-waves in neonates: increased spinal anterior horn motor neuron excitability

Brain & development (Tokyo. 1979), 2004, Vol.26 (1), p.8-11

2004

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Establishment and Characterization of a Novel Human Desmoplastic Small Round Cell Tumor Cell Line, JN-DSRCT-1

Laboratory investigation, 2002-09, Vol.82 (9), p.1175-1182

2002

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Essential Roles of Perforin in Antigen-Specific Cytotoxicity Mediated by Human CD4+ T Lymphocytes: Analysis Using the Combination of Hereditary Perforin-Deficient Effector Cells and Fas-Deficient Target Cells

The Journal of immunology (1950), 2003-02, Vol.170 (4), p.2205-2213

2003

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Studies on the development of motor nerve conduction velocity and evoked muscle potential in children (author's transl)

Fukuoka igaku zasshi = Hukuoka acta medica, 1977-09, Vol.68 (9), p.449

Mitsudome, A

1977

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Effect of aging on autonomic function in individuals with severe motor and intellectual disabilities

Brain & development (Tokyo. 1979), 2003-08, Vol.25 (5), p.326-329

2003

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A severe muscular dystrophy patient with an internally deleted very short (110 kD) Dystrophin: Presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin

Neuromuscular disorders : NMD, 1995-09, Vol.5 (5), p.429-438

1995

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Chromatic sensitive epilepsy: A variant of photosensitive epilepsy

Annals of neurology, 1999-06, Vol.45 (6), p.790-793

1999

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Favorable Seizure Outcome in Kabuki Make-up Syndrome Associated With Epilepsy

Journal of child neurology, 2003-08, Vol.18 (8), p.549-551

2003

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Werdnig-Hoffmann disease type I with progressive ophthalmoplegia and ptosis

No to hattatsu, 1996-07, Vol.28 (4), p.332

1996

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Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan

Valproate therapy does not deplete carnitine levels in otherwise healthy children

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

Development of the Temporal Lobe in Infants and Children: Analysis by MR-Based Volumetry

Effect of growth hormone on high plasma levels of glucagon-like peptide-1 (GLP-1) in hypophysectomized rats

The effectiveness of clonazepam on the rolandic discharges

Clinicopathologic Correlation of C1q Nephropathy in Children

Late-onset type II glutaric aciduria with massive pericardial effusion associated with severe fatty liver

A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family

Interleukin-6 in the cerebrospinal fluid of two patients with herpes zoster meningitis

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

An Infant With a Mitochondrial A3243G Mutation Demonstrating the MELAS Phenotype

F-waves in neonates: increased spinal anterior horn motor neuron excitability

Establishment and Characterization of a Novel Human Desmoplastic Small Round Cell Tumor Cell Line, JN-DSRCT-1

Essential Roles of Perforin in Antigen-Specific Cytotoxicity Mediated by Human CD4+ T Lymphocytes: Analysis Using the Combination of Hereditary Perforin-Deficient Effector Cells and Fas-Deficient Target Cells

Studies on the development of motor nerve conduction velocity and evoked muscle potential in children (author's transl)

Effect of aging on autonomic function in individuals with severe motor and intellectual disabilities

A severe muscular dystrophy patient with an internally deleted very short (110 kD) Dystrophin: Presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin

Chromatic sensitive epilepsy: A variant of photosensitive epilepsy

Favorable Seizure Outcome in Kabuki Make-up Syndrome Associated With Epilepsy

Werdnig-Hoffmann disease type I with progressive ophthalmoplegia and ptosis

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