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List of works by Masaya Kubota

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

scientific article published on August 21, 2012

A Simplified Electroencephalogram Monitoring System in the Emergency Room

scientific article published on 9 January 2017

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

scientific article published on 06 February 2019

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

scientific article published on April 1, 1998

A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy

scientific article published on 01 September 2004

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

scientific article published in January 2005

A nationwide survey of pediatric acquired demyelinating syndromes in Japan

scientific article published on 14 October 2016

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus ⬇️

scientific article published on March 27, 2013

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

scientific article

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

scientific article published on 5 August 2015

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

scientific article published in October 2004

Brain vascular changes in Cockayne syndrome.

scientific article published on 12 July 2011

Canavan disease: clinical features and recent advances in research.

scientific article published in August 2014

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

scientific article published on 12 April 2014

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

scientific article

Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.

scientific article published on 13 February 2015

Characterization of SPATA5-related encephalopathy in early childhood

scientific article published on June 2016

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

scientific article published in June 2004

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

scientific article

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

scientific article published on 26 April 2013

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

scientific article published on 7 June 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.

scientific article published on 27 March 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

scientific article published on 16 March 2010

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

scientific article published on 16 July 2016

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

scientific article

Detection of copy number variations in epilepsy using exome data.

scientific article published on 22 September 2017

Digital Amputation by Congenital Insensitivity to Pain with Anhidrosis

scientific article published on 06 February 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

scientific article published on 09 March 2019

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

scientific article published on 13 February 2008

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

scientific article published on September 15, 2011

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

scientific article published on 12 March 2013

Erythromycin improves gastrointestinal motility in extremely low birthweight infants

scientific article published on 01 April 1994

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

scientific article published on 27 July 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

scientific article published on 23 March 2018

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

scientific article published in February 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?

scientific article published on 23 March 2018

Increased right auditory cortex activity in absolute pitch possessors.

scientific article published in November 2005

Langerhans cell histiocytosis with disequilibrium ⬇️

scientific article published on February 10, 2012

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

scientific article published on 17 July 2015

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

scientific article published on 24 May 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.

scientific article published in June 2004

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

scientific article published on 01 October 2009

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

scientific article published on 27 August 2014

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

scientific article published on 6 August 2015

Mutations of the SCN1A gene in acute encephalopathy.

scientific article published on 6 February 2012

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

scientific article published on 01 June 2015

New guidelines for management of febrile seizures in Japan.

scientific article published on 6 September 2016

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

scientific article published on 08 June 2014

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

scientific article published on 20 January 2017

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

scientific article published on 24 April 2015

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

scientific article published on 14 May 2011

Paternal mosaicism of an STXBP1 mutation in OS

scientific article published on 10 November 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.

scientific article published in September 2002

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

scientific article published on 12 August 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.

scientific article published in July 1995

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

scientific article

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

scientific article published on 24 October 2007

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

scientific article published on 30 September 2010

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

scientific article published on 29 December 2016

Serum and CSF biomarkers in acute pediatric neurological disorders.

scientific article published on 11 July 2013

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

scientific article

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.

scientific article published on 7 December 2016

Specific HLA genotypes confer susceptibility to acute necrotizing encephalopathy.

scientific article published on 28 July 2016

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

scientific article published in February 2008

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

scientific article

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

scientific article published on 01 August 2001

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

scientific article published on 29 September 2018

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

scientific article published on 24 July 2019

Zonisamide - induced urinary lithiasis in patients with intractable epilepsy

scientific article published on 01 June 2000

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

scientific article

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