List of works - Mitsugu Uematsu

8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome.

scientific article published on February 2012

A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.

scientific article published on 10 September 2015

A case of acute cerebellitis with a unique sequential change on magnetic resonance imaging

scientific article published on 9 May 2014

A case of atypical benign partial epilepsy with action myoclonus

scientific article published on 29 December 2012

A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations

scientific article published in November 2006

A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract

scientific article published on 29 September 2010

A female case of West syndrome with remission of spasms following multiple cerebral hemorrhages

scientific article

A further case of renal tubular dysgenesis surviving the neonatal period

scientific article published on 14 May 2008

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

scientific article published on 16 July 2014

Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus.

scientific article

Acute encephalopathy in children with Dravet syndrome.

scientific article published on 16 November 2011

Asymmetric drug-induced tremor: rare feature of a common event

scientific article published in June 2013

Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord.

scientific article published on 8 April 2016

Brain white matter abnormality in a newborn infant with congenital adrenal hyperplasia

scientific article published on 26 October 2013

Clinical features and long-term outcome of a group of Japanese children with inflammatory central nervous system disorders and seropositivity to myelin-oligodendrocyte glycoprotein antibodies.

scientific article

Clinical profiles for seizure remission and developmental gains after total corpus callosotomy

scientific article published on 7 May 2015

Complete remission of seizures after corpus callosotomy.

scientific article published on 8 June 2012

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

scientific article published in July 2010

Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation

scientific article published on 6 May 2013

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study

scientific article

Efficacy of long term weekly ACTH therapy for intractable epilepsy.

scientific article published on 20 August 2014

Elevated plasma levels of tissue inhibitors of metalloproteinase-1 and their overexpression in muscle in human and mouse muscular dystrophy

scientific article published on 23 July 2010

Elevated serum levels of neutrophil elastase in patients with influenza virus-associated encephalopathy

scientific article published on 21 January 2015

First Japanese case of Zellweger syndrome with a mutation in PEX14.

scientific article

Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study

scientific article published on 17 November 2009

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

scientific article published on 23 November 2015

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

scientific article

Human occipital cortices differentially exert saccadic suppression: Intracranial recording in children

scientific article

Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome

scientific article published on 12 December 2011

In response to letter to Editor by Nosaka et al. on our paper: Elevated serum levels of neutrophil elastase in patients with influenza virus-associated encephalopathy. J Neurol Sci 2015;349:190-195.

scientific article published on 17 November 2016

Increased Ki-67 immunoreactivity in the white matter in hemimegalencephaly

scientific article

Interhemispheric Vertical Hemispherotomy: A Single Center Experience.

scientific article

Intramuscular renin-angiotensin system is activated in human muscular dystrophy

scientific article published on 20 February 2009

Ketotifen overdose in infancy associated with development of epilepsy and mild mental retardation

scientific article published on 01 December 2012

Late vitamin K deficiency bleeding in an infant born at a maternity hospital

scientific article published on 01 February 2014

Lateralization of interictal spikes after corpus callosotomy ⬇️

scientific article published on May 12, 2011

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings

scientific article

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia

scientific article published on 18 June 2014

Neonatal-onset brainstem reticular reflex myoclonus following a prenatal brain insult: generalized myoclonic jerk and a brainstem lesion

scientific article published in March 2007

Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan

scientific article published on 13 October 2009

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan

scientific article published on 3 October 2015

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency

scientific article published on 30 October 2007

Parental satisfaction and seizure outcome after corpus callosotomy in patients with infantile or early childhood onset epilepsy.

scientific article

Patchy white matter hyperintensity in ring chromosome 18 syndrome.

scientific article published on 31 August 2016

Pediatric-onset extracephalic stabbing pain.

scientific article published on 3 October 2013

Reduced levels of interleukin-1 receptor antagonist in the cerebrospinal fluid in patients with West syndrome

scientific article published on 16 April 2009

Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts

scientific article published on 22 November 2014

Restless legs syndrome: a unique case of relapse after traffic accidents with a long remission

scientific article published on 11 May 2010

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome

scientific article published on 9 October 2014

Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.

scientific article published on 11 August 2011

The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum

scientific article

Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly

scientific article published on 20 October 2010

Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.

scientific article published on 7 February 2012

Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome.

scientific article published in January 2013

[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome

scientific article published on 27 August 2018

List of works by Mitsugu Uematsu

8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome.

A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.

A case of acute cerebellitis with a unique sequential change on magnetic resonance imaging

A case of atypical benign partial epilepsy with action myoclonus

A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations

A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract

A female case of West syndrome with remission of spasms following multiple cerebral hemorrhages

A further case of renal tubular dysgenesis surviving the neonatal period

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus.

Acute encephalopathy in children with Dravet syndrome.

Asymmetric drug-induced tremor: rare feature of a common event

Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord.

Brain white matter abnormality in a newborn infant with congenital adrenal hyperplasia

Clinical features and long-term outcome of a group of Japanese children with inflammatory central nervous system disorders and seropositivity to myelin-oligodendrocyte glycoprotein antibodies.

Clinical profiles for seizure remission and developmental gains after total corpus callosotomy

Complete remission of seizures after corpus callosotomy.

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study

Efficacy of long term weekly ACTH therapy for intractable epilepsy.

Elevated plasma levels of tissue inhibitors of metalloproteinase-1 and their overexpression in muscle in human and mouse muscular dystrophy

Elevated serum levels of neutrophil elastase in patients with influenza virus-associated encephalopathy

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

Human occipital cortices differentially exert saccadic suppression: Intracranial recording in children

Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome

In response to letter to Editor by Nosaka et al. on our paper: Elevated serum levels of neutrophil elastase in patients with influenza virus-associated encephalopathy. J Neurol Sci 2015;349:190-195.

Increased Ki-67 immunoreactivity in the white matter in hemimegalencephaly

Interhemispheric Vertical Hemispherotomy: A Single Center Experience.

Intramuscular renin-angiotensin system is activated in human muscular dystrophy

Ketotifen overdose in infancy associated with development of epilepsy and mild mental retardation

Late vitamin K deficiency bleeding in an infant born at a maternity hospital

Lateralization of interictal spikes after corpus callosotomy ⬇️

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia

Neonatal-onset brainstem reticular reflex myoclonus following a prenatal brain insult: generalized myoclonic jerk and a brainstem lesion

Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency

Parental satisfaction and seizure outcome after corpus callosotomy in patients with infantile or early childhood onset epilepsy.

Patchy white matter hyperintensity in ring chromosome 18 syndrome.

Pediatric-onset extracephalic stabbing pain.

Reduced levels of interleukin-1 receptor antagonist in the cerebrospinal fluid in patients with West syndrome

Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts

Restless legs syndrome: a unique case of relapse after traffic accidents with a long remission

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome

Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.

The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum

Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly

Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.

Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome.

[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome