M. Uematsu

S. Kure, M. Uematsu, I. Fujiwara, 2013, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

K. Fujihara, T. Misu, K. Haginoya, 2015, Brain and Development.

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

M. Minegishi, S. Tsuchiya, M. Uematsu, 2012, Pediatric transplantation.

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

K. Nakayama, R. Funayama, K. Haginoya, 2015, Human Genetics.

Efficacy of long term weekly ACTH therapy for intractable epilepsy

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2015, Brain and Development.

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

Katsuya Yamamoto, K. Haginoya, S. Tsuchiya, 2009, Epilepsy Research.

Ictal Vomiting as an Initial Symptom of Severe Myoclonic Epilepsy in Infancy: A Case Report

K. Yamakawa, M. Ishitobi, K. Haginoya, 2009, Journal of child neurology.

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

Katsuya Yamamoto, H. Mikami, K. Haginoya, 2015, Journal of the Neurological Sciences.

Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome

S. Kure, Yukitoshi Takahashi, M. Uematsu, 2017, Journal of Clinical Neuroscience.

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

Eishi Asano, Naoyuki Matsuzaki, Katsuaki Kojima, 2013, NeuroImage.

Extremely low-dose vigabatrin for West syndrome with tuberous sclerosis

H. Osaka, K. Haginoya, S. Kure, 2013, Journal of Pediatric Epilepsy.

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

K. Yamakawa, H. Osaka, K. Haginoya, 2010, Human mutation.

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

K. Yamakawa, S. Fujimoto, T. Tatsukawa, 2022, Scientific Reports.

First Japanese case of Zellweger syndrome with a mutation in PEX14

Y. Matsubara, N. Shimozawa, K. Haginoya, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation

S. Kure, H. Hasegawa, M. Uematsu, 2021, Molecular genetics and metabolism reports.

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

T. Shiihara, Kengo Moriyama, M. Uematsu, 2015, Brain and Development.

Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study

K. Haginoya, S. Kure, S. Tsuchiya, 2009, Journal of child neurology.

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

N. Blau, K. Haginoya, K. Wakusawa, 2007, The Tohoku journal of experimental medicine.

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

K. Haginoya, S. Kure, Y. Kakisaka, 2007, The Tohoku journal of experimental medicine.

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

K. Nakayama, R. Funayama, K. Haginoya, 2015, Human Genetics.

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

S. Nabatame, Toshiyuki Yamamoto, M. Sasaki, 2012, Seizure.

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

K. Haginoya, M. Uematsu, S. Kumaki, 2014, Pediatric Neurology.

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

K. Haginoya, S. Tsuchiya, M. Uematsu, 2009, Epilepsy Research.

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

I. Nonaka, H. Osaka, S. Okahashi, 2011, Journal of the Neurological Sciences.

Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.

Katsuhiro Kobayashi, T. Akiyama, K. Ozono, 2018, Molecular genetics and metabolism.

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

Mitsuyo Matsumoto, K. Igarashi, K. Haginoya, 2015, Human Genetics.

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

N. Matsumoto, T. Tominaga, M. Iwasaki, 2014, Brain and Development.

Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly

N. Nakasato, M. Iwasaki, K. Haginoya, 2010, Epilepsy Research.

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet

H. Osaka, H. Saitsu, A. Ohtake, 2021, Molecular genetics and metabolism reports.

Successful Treatment With Sumatriptan in a Case With Cyclic Vomiting Syndrome Combined With 18q— Syndrome

K. Haginoya, Y. Kakisaka, K. Wakusawa, 2009, Journal of child neurology.

FDG-PET study of patients with Leigh syndrome

N. Matsumoto, N. Miyake, H. Saitsu, 2016, Journal of the Neurological Sciences.

Clinical Reasoning: A young man with progressive subcortical lesions and optic nerve atrophy

Y. Matsubara, N. Fuse, M. Uematsu, 2012, Neurology.

Correspondence on “Clinical Characterization of Gastroenteritis-Related Seizures in Children: Impact of Fever and Serum Sodium Levels”

S. Kure, Y. Kakisaka, M. Uematsu, 2014, Journal of child neurology.

A case of atypical benign partial epilepsy with action myoclonus

K. Haginoya, Toshiyuki Yamamoto, K. Wakusawa, 2013, Seizure.

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

N. Nakasato, T. Tominaga, M. Iwasaki, 2013, Seizure.

Periodic Eye Movements and Epileptic Spasms in West Syndrome

S. Kure, Y. Kakisaka, M. Uematsu, 2013, Journal of child neurology.

Complete remission of seizures after corpus callosotomy.

N. Nakasato, T. Tominaga, M. Iwasaki, 2012, Journal of neurosurgery. Pediatrics.

Behavioral problems and family distress in tuberous sclerosis complex

T. Shiihara, S. Saitoh, Kei Ohashi, 2020, Epilepsy & Behavior.

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

Toshiyuki Yamamoto, Ayako Umemura, M. Uematsu, 2014, Human Genome Variation.

Interhemispheric Vertical Hemispherotomy: A Single Center Experience

N. Nakasato, T. Tominaga, M. Iwasaki, 2015, Pediatric Neurosurgery.

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

S. Kure, M. Uematsu, Akimune Kaga, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12

S. Kure, M. Uematsu, A. Kikuchi, 2017, Neurology: Genetics.

The Onset of Interictal Spike-Related Ripples Facilitates Detection of the Epileptogenic Zone

N. Nakasato, M. Iwasaki, Rie Sakuraba, 2021, Frontiers in Neurology.

The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant

S. Kure, M. Uematsu, Yu Abe, 2021, American journal of medical genetics. Part A.

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

M. Iwasaki, K. Haginoya, S. Kure, 2016, Brain and Development.

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

K. Ihara, F. Endo, T. Morimoto, 2007, Journal of Human Genetics.

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

M. Uematsu, Yoshifusa Abe, Satoshi Hibino, 2015, Pediatric Nephrology.

A further case of renal tubular dysgenesis surviving the neonatal period

S. Tsuchiya, M. Uematsu, O. Sakamoto, 2009, European Journal of Pediatrics.

[High dose of enzyme replacement therapy was successful for the pulmonary involvement in a case of type 2 Gaucher disease].

K. Wakusawa, S. Tsuchiya, M. Uematsu, 2010, No to hattatsu = Brain and development.

Reversible brain atrophy in glutaric aciduria type 1

S. Kure, Y. Kakisaka, M. Uematsu, 2017, Brain and Development.

Lateralization of interictal spikes after corpus callosotomy

N. Nakasato, T. Tominaga, M. Iwasaki, 2011, Clinical Neurophysiology.

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

K. Haginoya, S. Tsuchiya, M. Uematsu, 2011, Brain and Development.

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

K. Haginoya, Y. Kakisaka, S. Tsuchiya, 2010, Sleep medicine.

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

T. Abe, T. Nishio, K. Okamura, 2006, American journal of medical genetics. Part A.

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

H. Fukuda, S. Kure, H. Doi, 2013, The Tohoku journal of experimental medicine.

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

S. Kure, M. Uematsu, T. Nakayama, 2014, Brain and Development.

CUX2 mutations in temporal lobe epilepsy; increased kainate susceptibility and excitatory input to hippocampus in deficient mice

K. Yamakawa, S. Fujimoto, T. Tatsukawa, 2021 .

Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake

Shigeru Tsuchiya, Shigeo Kure, Osamu Sakamoto, 2014, Brain and Development.

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

Kayoko Saito, S. Kure, M. Uematsu, 2023, Pediatric Neurology.

Another Case of Lower Back Pain Associated With Migraine

S. Kure, Y. Kakisaka, M. Uematsu, 2013, Journal of child neurology.

Efficacy of Sumatriptan in Two Pediatric Cases With Abdominal Pain-Related Functional Gastrointestinal Disorders: Does the Mechanism Overlap That of Migraine?

K. Haginoya, Y. Kakisaka, K. Wakusawa, 2010, Journal of child neurology.

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

K. Yamakawa, M. Ishitobi, K. Haginoya, 2018, Epilepsy Research.

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

K. Haginoya, S. Tsuchiya, M. Uematsu, 2010, Journal of the Neurological Sciences.

Progressive Atrophy of the Cerebrum in 2 Japanese Sisters with Microcephaly with Simplified Gyri and Enlarged Extraaxial Space

K. Haginoya, S. Tsuchiya, H. Yokoyama, 2011, Neuropediatrics.

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination

A. Ohtake, K. Murayama, S. Kure, 2018, Clinical genetics.

Neonatal “Seizure” While Riding in a Car

S. Kure, Y. Kakisaka, M. Uematsu, 2014, Clinical pediatrics.

Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia

N. Matsumoto, S. Miyatake, E. Koshimizu, 2023, Molecular Syndromology.