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De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies

Neurology, 2009-09, Vol.73 (13), p.1046-1053

2009

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GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Neurology, 2011-09, Vol.77 (13), p.1287-1294

2011

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CSF hypocretin-1 (orexin-A) levels in childhood narcolepsy and neurologic disorders

Neurology, 2004-12, Vol.63 (12), p.2440-2442

2004

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Polyalanine expansion of ARX associated with cryptogenic West syndrome

Neurology, 2003-07, Vol.61 (2), p.267-276

2003

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Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

Clinical genetics, 2001-12, Vol.60 (6), p.447-451

2001

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Hypocretin deficiency in niemann-pick type C with cataplexy

Neuropediatrics, 2003-02, Vol.34 (1), p.52-53

2003

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SSPE following neonatal measles infection

Pediatric neurology, 1999, Vol.20 (1), p.63-65

1999

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Acute cerebellitis

Cerebellum (London, England), 2002-07, Vol.1 (3), p.223-228

2002

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Pharmacokinetics and Effects of Ribavirin following Intraventricular Administration for Treatment of Subacute Sclerosing Panencephalitis

Antimicrobial Agents and Chemotherapy, 2004-12, Vol.48 (12), p.4631-4635

2004

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Hypocretin-1 (orexin-A) levels in human lumbar CSF in different age groups: Infants to elderly persons

Sleep (New York, N.Y.), 2002-05, Vol.25 (3), p.337-339

2002

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3‐Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease

Journal of inherited metabolic disease, 1999-02, Vol.22 (1), p.1-8

1999

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Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease

Journal of human genetics, 2004-07, Vol.49 (7), p.376-379

2004

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Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene

Neurology, 2002-05, Vol.58 (10), p.1541-1543

2002

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Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

Journal of human genetics, 2005-07, Vol.50 (7), p.347-352

2005

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Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP

Journal of the neurological sciences, 2004-10, Vol.225 (1), p.125-127

2004

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Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis

European journal of pediatrics, 2002-03, Vol.161 (3), p.133-137

2002

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A case of carbamazepine intoxication with alpha coma and status epilepticus

No to hattatsu, 2001-11, Vol.33 (6), p.528

2001

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Abnormal white matter lesions with sensorineural hearing loss caused by congenital cytomegalovirus infection: retrospective diagnosis by PCR using Guthrie cards

Brain & development (Tokyo. 1979), 2002-10, Vol.24 (7), p.710-714

2002

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A Hippocampal Lesion Detected by High-Field 3 Tesla Magnetic Resonance Imaging in a Patient with Temporal Lobe Epilepsy

The Tohoku Journal of Experimental Medicine, 2005, Vol.205(3), pp.287-291

2005

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Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

American journal of human genetics, 1992-03, Vol.50 (3), p.655-657

1992

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Lidocaine‐dependent Early Infantile Status Epilepticus with Highly Suppressed EEG

Epilepsia (Copenhagen), 2002-02, Vol.43 (2), p.201-204

2002

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Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan

Brain & development (Tokyo. 1979), 2003-10, Vol.25 (7), p.514-517

2003

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Acute cerebellitis caused by Coxiella burnetii

Annals of neurology, 1999-01, Vol.45 (1), p.124-127

1999

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Progressive facial hemiatrophy after epileptic seizures

Pediatric neurology, 2000-08, Vol.23 (2), p.164-166

2000

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Migratory basal ganglia lesions in subacute sclerosing panencephalitis (SSPE): Clinical implications of axonal spread

Journal of the neurological sciences, 1999-10, Vol.168 (2), p.137-140

1999

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De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

CSF hypocretin-1 (orexin-A) levels in childhood narcolepsy and neurologic disorders

Polyalanine expansion of ARX associated with cryptogenic West syndrome

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

Hypocretin deficiency in niemann-pick type C with cataplexy

SSPE following neonatal measles infection

Acute cerebellitis

Pharmacokinetics and Effects of Ribavirin following Intraventricular Administration for Treatment of Subacute Sclerosing Panencephalitis

Hypocretin-1 (orexin-A) levels in human lumbar CSF in different age groups: Infants to elderly persons

3‐Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease

Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP

Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis

A case of carbamazepine intoxication with alpha coma and status epilepticus

Abnormal white matter lesions with sensorineural hearing loss caused by congenital cytomegalovirus infection: retrospective diagnosis by PCR using Guthrie cards

A Hippocampal Lesion Detected by High-Field 3 Tesla Magnetic Resonance Imaging in a Patient with Temporal Lobe Epilepsy

Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

Lidocaine‐dependent Early Infantile Status Epilepticus with Highly Suppressed EEG

Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan

Acute cerebellitis caused by Coxiella burnetii

Progressive facial hemiatrophy after epileptic seizures

Migratory basal ganglia lesions in subacute sclerosing panencephalitis (SSPE): Clinical implications of axonal spread

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