Lista de obras -

A Case of Osteogenesis Imperfecta Type II Caused by a Novel COL1A2 Gene Mutation: Endoscopic Third Ventriculostomy to Prevent Hydrocephalus ⬇️

artículo científico publicado el 21 de agosto de 2012

A Simplified Electroencephalogram Monitoring System in the Emergency Room

artículo científico publicado en 2017

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

artículo científico publicado en 2019

A case of parietal lobe epilepsy with distinctive clinical and neuroradiological features ⬇️

artículo científico publicado el 1 de abril de 1998

A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy

artículo científico publicado en 2004

A magnetoencephalographic study of negative myoclonus in a patient with atypical benign partial epilepsy.

artículo científico publicado en 2005

A nationwide survey of pediatric acquired demyelinating syndromes in Japan

artículo científico publicado en 2016

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus ⬇️

artículo científico publicado el 27 de marzo de 2013

Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

artículo científico publicado en 2016

Analysis of a child who developed abnormal neuropsychiatric symptoms after administration of oseltamivir: a case report.

artículo científico publicado en 2015

Beneficial effect of L-arginine for stroke-like episode in MELAS.

artículo científico publicado en 2004

Brain vascular changes in Cockayne syndrome.

artículo científico publicado en 2011

Canavan disease: clinical features and recent advances in research.

artículo científico publicado en 2014

Central pontine myelinolysis following pediatric living donor liver transplantation: a case report and review of literature.

artículo científico publicado en 2014

Changes in cerebrospinal fluid biomarkers in human herpesvirus-6-associated acute encephalopathy/febrile seizures.

artículo científico publicado en 2014

Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.

artículo científico publicado en 2015

Characterization of SPATA5-related encephalopathy in early childhood

artículo científico publicado en 2016

Children are sensitive to averted eyes at the earliest stage of gaze processing.

artículo científico publicado en 2004

Clinical and genetic features of acute encephalopathy in children taking theophylline.

artículo científico publicado en 2014

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

artículo científico publicado en 2013

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

artículo científico publicado en 2019

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

artículo científico publicado en 2009

Control of a methicillin-resistant Staphylococcus aureus outbreak in a neonatal intensive care unit by unselective use of nasal mupirocin ointment

scientific article published on 01 October 2000

Critical illness polyneuropathy after septic peritonitis in a boy with nephrotic syndrome

artículo científico publicado en 2010

Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS.

artículo científico publicado en 2016

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

artículo científico publicado en 2013

Detection of copy number variations in epilepsy using exome data.

artículo científico publicado en 2017

Digital Amputation by Congenital Insensitivity to Pain with Anhidrosis

artículo científico publicado en 2019

Early administration of vitamins B1 and B6 and l-carnitine prevents a second attack of acute encephalopathy with biphasic seizures and late reduced diffusion: A case control study

artículo científico publicado en 2019

Early hemispherotomy in a patient with multilobar cortical dysplasia with intractable seizure: clinical-neurophysiological study.

artículo científico publicado en 2008

Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes

artículo científico publicado el 15 de septiembre de 2011

Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan

artículo científico publicado en 2013

Erythromycin improves gastrointestinal motility in extremely low birthweight infants

artículo científico publicado en 1994

Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan

artículo científico publicado en 2018

Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure

scientific article published on 04 May 2009

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

artículo científico publicado en 2018

Hereditary sensory and autonomic neuropathy types IV and V in Japan.

artículo científico publicado en 2015

High-dose lorazepam for convulsive status epilepticus in an infant with holoprosencephaly

scientific article published on 01 August 2010

Ictal pouting: kabuki visage or chapeau de gendarme?

artículo científico publicado en 2018

Increased right auditory cortex activity in absolute pitch possessors.

artículo científico publicado en 2005

Langerhans cell histiocytosis with disequilibrium ⬇️

artículo científico publicado el 10 de febrero de 2012

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.

artículo científico publicado en 2015

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease

artículo científico publicado en 2016

Long-term ventilator support in patients with Werdnig-Hoffmann disease

scientific article published on 01 August 2000

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

Magnetoencephalographic analysis of rolandic discharges in a patient with rolandic epilepsy associated with oromotor deficits.

artículo científico publicado en 2004

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

artículo científico publicado en 2009

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

artículo científico publicado en 2014

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures

artículo científico publicado en 2015

Mutations of the SCN1A gene in acute encephalopathy.

artículo científico publicado en 2012

Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis

artículo científico publicado en 2015

New guidelines for management of febrile seizures in Japan.

artículo científico publicado en 2016

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

artículo científico publicado en 2014

Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome

artículo científico publicado en 2017

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

artículo científico publicado en 2015

Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)

artículo científico publicado en 2011

Paternal mosaicism of an STXBP1 mutation in OS

artículo científico publicado en 2010

Patients with benign rolandic epilepsy have a longer duration of somatosensory evoked high-frequency oscillations

scientific article published on 01 December 2004

People with absolute pitch process tones with producing P300.

artículo científico publicado en 2002

Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).

artículo científico publicado en 2015

Prolonged mild disturbance of consciousness and acute encephalopathy

scientific article published on 07 February 2019

Reduction of seizure frequency with clomipramine in patients with complex partial seizures.

artículo científico publicado en 1995

Reply to the letter: "The diagnostic value of MRI in pediatric chronic inflammatory demyelinating polyradiculoneuropathy".

artículo científico publicado en 2015

Roles of matrix metalloproteinase-9 and tissue inhibitors of metalloproteinases 1 in acute encephalopathy following prolonged febrile seizures

artículo científico publicado en 2007

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

artículo científico publicado en 2010

Sequential analysis of variable markers for predicting outcomes in pediatric patients with acute liver failure.

artículo científico publicado en 2016

Serum and CSF biomarkers in acute pediatric neurological disorders.

artículo científico publicado en 2013

Serum and cerebrospinal fluid levels of cytokines in acute encephalopathy associated with human herpesvirus-6 infection.

artículo científico publicado en 2008

Severe anti-GAD antibody-associated encephalitis after stem cell transplantation

scientific article published on 28 October 2018

Severe gastrointestinal dysmotility in a patient with congenital myopathy: causal relationship to decrease of interstitial cells of Cajal

scientific article published on 15 December 2004

Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children.

artículo científico publicado en 2016

Specific HLA genotypes confer susceptibility to acute necrotizing encephalopathy.

artículo científico publicado en 2016

Steroid-responsive chronic cerebellitis with positive glutamate receptor delta 2 antibody.

artículo científico publicado en 2008

Temporary improvement of neurological symptoms with gammaglobulin therapy in a boy with adrenoleukodystrophy.

artículo científico publicado en 1996

The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy

artículo científico publicado en 2001

Therapeutic regimen of L-arginine for MELAS: 9-year, prospective, multicenter, clinical research

artículo científico publicado en 2018

Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy

artículo científico publicado en 2019

Zonisamide - induced urinary lithiasis in patients with intractable epilepsy

artículo científico publicado en 2000

[Diagnostic value of brain biopsy in a pediatric multiple sclerosis mimicking brain stem glioma].

artículo científico publicado en 2013

Lista de obras de

A Case of Osteogenesis Imperfecta Type II Caused by a Novel COL1A2 Gene Mutation: Endoscopic Third Ventriculostomy to Prevent Hydrocephalus ⬇️

A Simplified Electroencephalogram Monitoring System in the Emergency Room

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

A case of parietal lobe epilepsy with distinctive clinical and neuroradiological features ⬇️

A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy

A magnetoencephalographic study of negative myoclonus in a patient with atypical benign partial epilepsy.

A nationwide survey of pediatric acquired demyelinating syndromes in Japan

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus ⬇️

Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

Analysis of a child who developed abnormal neuropsychiatric symptoms after administration of oseltamivir: a case report.

Beneficial effect of L-arginine for stroke-like episode in MELAS.

Brain vascular changes in Cockayne syndrome.

Canavan disease: clinical features and recent advances in research.

Central pontine myelinolysis following pediatric living donor liver transplantation: a case report and review of literature.

Changes in cerebrospinal fluid biomarkers in human herpesvirus-6-associated acute encephalopathy/febrile seizures.

Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.

Characterization of SPATA5-related encephalopathy in early childhood

Children are sensitive to averted eyes at the earliest stage of gaze processing.

Clinical and genetic features of acute encephalopathy in children taking theophylline.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

Control of a methicillin-resistant Staphylococcus aureus outbreak in a neonatal intensive care unit by unselective use of nasal mupirocin ointment

Critical illness polyneuropathy after septic peritonitis in a boy with nephrotic syndrome

Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS.

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

Detection of copy number variations in epilepsy using exome data.

Digital Amputation by Congenital Insensitivity to Pain with Anhidrosis

Early administration of vitamins B1 and B6 and l-carnitine prevents a second attack of acute encephalopathy with biphasic seizures and late reduced diffusion: A case control study

Early hemispherotomy in a patient with multilobar cortical dysplasia with intractable seizure: clinical-neurophysiological study.

Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes

Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan

Erythromycin improves gastrointestinal motility in extremely low birthweight infants

Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan

Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Hereditary sensory and autonomic neuropathy types IV and V in Japan.

High-dose lorazepam for convulsive status epilepticus in an infant with holoprosencephaly

Ictal pouting: kabuki visage or chapeau de gendarme?

Increased right auditory cortex activity in absolute pitch possessors.

Langerhans cell histiocytosis with disequilibrium ⬇️

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease

Long-term ventilator support in patients with Werdnig-Hoffmann disease

MLL2 and KDM6A mutations in patients with Kabuki syndrome

Magnetoencephalographic analysis of rolandic discharges in a patient with rolandic epilepsy associated with oromotor deficits.

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures

Mutations of the SCN1A gene in acute encephalopathy.

Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis

New guidelines for management of febrile seizures in Japan.

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)

Paternal mosaicism of an STXBP1 mutation in OS

Patients with benign rolandic epilepsy have a longer duration of somatosensory evoked high-frequency oscillations

People with absolute pitch process tones with producing P300.

Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).

Prolonged mild disturbance of consciousness and acute encephalopathy

Reduction of seizure frequency with clomipramine in patients with complex partial seizures.

Reply to the letter: "The diagnostic value of MRI in pediatric chronic inflammatory demyelinating polyradiculoneuropathy".

Roles of matrix metalloproteinase-9 and tissue inhibitors of metalloproteinases 1 in acute encephalopathy following prolonged febrile seizures

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

Sequential analysis of variable markers for predicting outcomes in pediatric patients with acute liver failure.

Serum and CSF biomarkers in acute pediatric neurological disorders.

Serum and cerebrospinal fluid levels of cytokines in acute encephalopathy associated with human herpesvirus-6 infection.

Severe anti-GAD antibody-associated encephalitis after stem cell transplantation

Severe gastrointestinal dysmotility in a patient with congenital myopathy: causal relationship to decrease of interstitial cells of Cajal

Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children.

Specific HLA genotypes confer susceptibility to acute necrotizing encephalopathy.

Steroid-responsive chronic cerebellitis with positive glutamate receptor delta 2 antibody.

Temporary improvement of neurological symptoms with gammaglobulin therapy in a boy with adrenoleukodystrophy.

The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy

Therapeutic regimen of L-arginine for MELAS: 9-year, prospective, multicenter, clinical research

Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy

Zonisamide - induced urinary lithiasis in patients with intractable epilepsy

[Diagnostic value of brain biopsy in a pediatric multiple sclerosis mimicking brain stem glioma].