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Research Output 1998 2019

  • 1232 Citations
  • 20 h-Index
  • 78 Article
  • 2 Comment/debate
  • 2 Review article
  • 1 Conference article
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Article
2019

A Child with Prostaglandin I2-associated Thyrotoxicosis: Case Report

Sonoda, Y., Yamamura, K., Ishii, K., Ohkubo, K., Ihara, K., Sakai, Y. & Ohga, S., May 28 2019, In : Journal of clinical research in pediatric endocrinology. 11, 2, p. 207-210 4 p.

Research output: Contribution to journalArticle

Open Access
Thyrotoxicosis
Epoprostenol
Hyperthyroidism
Pulmonary Hypertension
Thyroid Gland

An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome

Okuzono, S., Fukai, R., Noda, M., Miyake, N., Lee, S., Kaku, N., Sanefuji, M., Akamine, S., Kanno, S., Ishizaki, Y., Torisu, H., Kira, R., Matsumoto, N., Sakai, Y. & Ohga, S., Apr 1 2019, In : Brain and Development. 41, 4, p. 378-381 4 p.

Research output: Contribution to journalArticle

Brain Diseases
Exome
Mutation
Inborn Genetic Diseases
Sick Leave

A Nationwide Survey of Pediatric-onset Japanese Encephalitis in Japan

Nanishi, E., Hoshina, T., Sanefuji, M., Kadoya, R., Kitazawa, K., Arahata, Y., Sato, T., Hirayama, Y., Hirai, K., Yanai, M., Nikaido, K., Maeda, A., Torisu, H., Okada, K., Sakai, Y. & Ohga, S., May 30 2019, In : Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 68, 12, p. 2099-2104 6 p.

Research output: Contribution to journalArticle

Japanese Encephalitis
Japan
Vaccination
Japanese Encephalitis Vaccines
Pediatrics

A nationwide survey on tracheostomy for very-low-birth-weight infants in Japan

on behalf of the Neonatal Research Network of Japan, Jan 1 2019, In : Pediatric Pulmonology. 54, 1, p. 53-60 8 p.

Research output: Contribution to journalArticle

Very Low Birth Weight Infant
Tracheostomy
Japan
Odds Ratio
Parturition

Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases

Yonemoto, K., Shono, Y., Sanefuji, M., Kaku, N., Sakata, A., Baba, R., Yamashita, F., Akamine, S., Torio, M., Ishizaki, Y., Maehara, Y., Sakai, Y. & Ohga, S., Jan 1 2019, In : Clinical EEG and Neuroscience. 50, 1, p. 51-55 5 p.

Research output: Contribution to journalArticle

Spasm
Brain Diseases
Adrenocorticotropic Hormone
Electroencephalography
Sick Leave

Late-Onset Circulatory Collapse and Risk of Cerebral Palsy in Extremely Preterm Infants

Yasuoka, K., Inoue, H., Egami, N., Ochiai, M., Tanaka, K., Sawano, T., Kurata, H., Ichiyama, M., Fujiyoshi, J., Matsushita, Y., Sakai, Y. & Ohga, S., Jan 1 2019, In : Journal of Pediatrics.

Research output: Contribution to journalArticle

Extremely Premature Infants
Cerebral Palsy
Brain Injuries
Shock
Delayed Diagnosis

Late-onset sepsis and encephalopathy after bicycle-spoke injury: A case report

Takemoto, R., Motomura, Y., Kaku, N., Shono, Y., Muraoka, M., Kanno, S., Tanaka, T., Sakai, Y., Maehara, Y. & Ohga, S., May 28 2019, In : BMC Infectious Diseases. 19, 1, 472.

Research output: Contribution to journalArticle

Open Access
Brain Diseases
Sepsis
Wounds and Injuries
Diffusion Magnetic Resonance Imaging
Methicillin
Dental Pulp
Dopaminergic Neurons
Brain-Derived Neurotrophic Factor
Neurites
Attention Deficit Disorder with Hyperactivity

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

Iwasawa, S., Yanagi, K., Kikuchi, A., Kobayashi, Y., Haginoya, K., Matsumoto, H., Kurosawa, K., Ochiai, M., Sakai, Y., Fujita, A., Miyake, N., Niihori, T., Shirota, M., Funayama, R., Nonoyama, S., Ohga, S., Kawame, H., Nakayama, K., Aoki, Y., Matsumoto, N. & 4 othersKaname, T., Matsubara, Y., Shoji, W. & Kure, S., Jun 1 2019, In : Annals of Neurology. 85, 6, p. 927-933 7 p.

Research output: Contribution to journalArticle

Adaptor Protein Complex 1
Axons
Phenotype
Kinesin
Axonal Transport
2018
3 Citations (Scopus)

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

Akamine, S., Ishizaki, Y., Sakai, Y., Torisu, H., Fukai, R., Miyake, N., Okubo, K., Koga, H., Sanefuji, M., Sakata, A., Kimura, M., Yamaguchi, S., Sakamoto, O., Hara, T., Saitsu, H., Matsumoto, N. & Ohga, S., Aug 1 2018, In : European Journal of Medical Genetics. 61, 8, p. 451-454 4 p.

Research output: Contribution to journalArticle

Brain Diseases
Mutation
Methylmalonic Acid
Exome
Infantile Spasms

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention /631/378/2649/1310 /631/378/2617/1795 /631/477/2811 article

Sanefuji, M., Yamashita, H., Torio, M., Katsuki, D., Akamine, S., Ishizaki, Y., Kishimoto, J., Sakai, Y., Takada, H., Yoshida, K. & Ohga, S., Dec 1 2018, In : Scientific reports. 8, 1, 7562.

Research output: Contribution to journalArticle

Saccades
Reaction Time
Task Performance and Analysis
Healthy Volunteers
Brain
1 Citation (Scopus)

Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia

Sonoda, M., ishimura, M., Shono, Y., Terashi, E., Eguchi, K., Sakai, Y., Takada, H., Hama, A., Kanno, H., Toki, T., Ito, E. & Ohga, S., Aug 1 2018, In : International journal of hematology. 108, 2, p. 228-231 4 p.

Research output: Contribution to journalArticle

Anemia
Neonatal Anemia
Clonal Evolution
Chelation Therapy
Refractory Anemia
2 Citations (Scopus)

Cancer management in kabuki syndrome: The first case of wilms tumor and a literature review

Teranishi, H., Koga, Y., Nakashima, K., Morihana, E., Ishii, K., Sakai, Y., Taguchi, T., Oda, Y., Miyake, N., Matsumoto, N. & Ohga, S., Jul 1 2018, In : Journal of Pediatric Hematology/Oncology. 40, 5, p. 391-394 4 p.

Research output: Contribution to journalArticle

Wilms Tumor
Neoplasms
Dandy-Walker Syndrome
Hypoplastic Left Heart Syndrome
Mutation

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

Chong, P. F., Saitsu, H., Sakai, Y., Imagi, T., Nakamura, R., Matsukura, M., Matsumoto, N. & Kira, R., Aug 1 2018, In : Seizure. 60, p. 91-93 3 p.

Research output: Contribution to journalArticle

Exome
Infantile Spasms
Brain Diseases
Autistic Disorder
NAV1.2 Voltage-Gated Sodium Channel

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: A metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency

Kaku, N., Ihara, K., Hirata, Y., Yamada, K., Lee, S., Kanemasa, H., Motomura, Y., Baba, H., Tanaka, T., Sakai, Y., Maehara, Y. & Ohga, S., Oct 1 2018, In : Journal of Clinical Pathology. 71, 10, p. 885-889 5 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Autopsy
Molecular Biology
Cause of Death
Newborn Infant
1 Citation (Scopus)

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

Akamine, S., Sagata, N., Sakai, Y., Kato, T., Nakahara, T., Matsushita, Y., Togao, O., Akio, H., Sanefuji, M., Ishizaki, Y., Torisu, H., Saitsu, H., Matsumoto, N., Hara, T., Sawa, A., Kano, S., Furue, M., Kanba, S., Shaw, C. A. & Ohga, S., Jan 1 2018, In : Epilepsia Open. 3, 1, p. 81-85 5 p.

Research output: Contribution to journalArticle

Open Access
Neurofibromatosis 1
Brain Diseases
Mutation
Exome
Genes

Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt

Uike, K., Nagata, H., Hirata, Y., Yamamura, K., Terashi, E., Matsuura, T., Morihana, E., Okubo, K., Ishii, K., Sakai, Y., Taguchi, T. & Ohga, S., Apr 1 2018, In : Pediatric Pulmonology. 53, 4, p. 505-511 7 p.

Research output: Contribution to journalArticle

Pulmonary Hypertension
Liver Diseases
Hypertension
Patent Ductus Venosus
Vascular Malformations
1 Citation (Scopus)
Deciduous Tooth
Dopaminergic Neurons
Neurites
Stem cells
Neurons
13 Citations (Scopus)

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Takata, A., Miyake, N., Tsurusaki, Y., Fukai, R., Miyatake, S., Koshimizu, E., Kushima, I., Okada, T., Morikawa, M., Uno, Y., Ishizuka, K., Nakamura, K., Tsujii, M., Yoshikawa, T., Toyota, T., Okamoto, N., Hiraki, Y., Hashimoto, R., Yasuda, Y., Saitoh, S. & 26 othersOhashi, K., Sakai, Y., Ohga, S., Hara, T., Kato, M., Nakamura, K., Ito, A., Seiwa, C., Shirahata, E., Osaka, H., Matsumoto, A., Takeshita, S., Tohyama, J., Saikusa, T., Matsuishi, T., Nakamura, T., Tsuboi, T., Kato, T., Suzuki, T., Saitsu, H., Nakashima, M., Mizuguchi, T., Tanaka, F., Mori, N., Ozaki, N. & Matsumoto, N., Jan 16 2018, In : Cell Reports. 22, 3, p. 734-747 14 p.

Research output: Contribution to journalArticle

Genes
Mutation
Cardiac Glycosides
Corpus Striatum
Valproic Acid

Leucine-rich alpha-2 glycoprotein in the cerebrospinal fluid is a potential inflammatory biomarker for meningitis

Chong, P. F., Sakai, Y., Torisu, H., Tanaka, T., Furuno, K., Mizuno, Y., Ohga, S., Hara, T. & Kira, R., Sep 15 2018, In : Journal of the Neurological Sciences. 392, p. 51-55 5 p.

Research output: Contribution to journalArticle

Meningitis
Leucine
Bacterial Meningitides
Cerebrospinal Fluid
Glycoproteins
4 Citations (Scopus)
Methyl-CpG-Binding Protein 2
Rett Syndrome
Deciduous Tooth
Dopaminergic Neurons
Stem cells

Neurodevelopmental outcomes in infants with birth weight ≤500 g at 3 years of age

Inoue, H., Ochiai, M., Sakai, Y., Yasuoka, K., Tanaka, K., Ichiyama, M., Kurata, H., Fujiyoshi, J., Matsushita, Y., Honjo, S., Nonaka, K., Taguchi, T., Kato, K. & Ohga, S., Dec 1 2018, In : Pediatrics. 142, 6, e20174286.

Research output: Contribution to journalArticle

Birth Weight
Confidence Intervals
Odds Ratio
Periventricular Leukomalacia
Necrotizing Enterocolitis
1 Citation (Scopus)

Predictive indicators for the development of epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion

Shono, Y., Kaku, N., Sanefuji, M., Torio, M., Mizuguchi, S., Motomura, Y., Muraoka, M., Lee, S., Baba, H., Sonoda, Y., Ishizaki, Y., Sasazuki, M., Sakai, Y., Maehara, Y. & Ohga, S., Jul 1 2018, In : Epilepsy Research. 143, p. 70-74 5 p.

Research output: Contribution to journalArticle

Brain Diseases
Epilepsy
Seizures
Atrophy
Dyskinesias

Radiotherapy for Langerhans cell histiocytosis with paraplegia: A rare oncologic emergency case report in infancy and literature review

Nakashima, K., Koga, Y., Sakai, Y., Takada, H., Harimaya, K., Saiji, O., Taguchi, T., Oda, Y., Honda, H. & Ohga, S., Nov 1 2018, In : Brain and Development. 40, 10, p. 952-955 4 p.

Research output: Contribution to journalArticle

Langerhans Cell Histiocytosis
Paraplegia
Emergencies
Radiotherapy
Spinal Cord
1 Citation (Scopus)

Vascular pathomechanism in acute encephalopathy with biphasic seizures and late reduced diffusion

Sanefuji, M., Shono, Y., Kaku, N., Sasazuki, M., Yonemoto, K., Torio, M., Mizuguchi, S., Motomura, Y., Muraoka, M., Lee, S., Baba, H., Okubo, K., Sonoda, Y., Ishizaki, Y., Sakai, Y. & Ohga, S., Dec 15 2018, In : Journal of the Neurological Sciences. 395, p. 141-146 6 p.

Research output: Contribution to journalArticle

Middle Cerebral Artery
Brain Diseases
Blood Vessels
Seizures
Moyamoya Disease
2017

A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia

Ohyama, N., Torio, M., Nakashima, K., Koga, Y., Kanno, S., Nishio, H., Nishiyama, K., Sasazuki, M., Kato, H., Asakura, H., Akamine, S., Sanefuji, M., Ishizaki, Y., Sakai, Y. & Ohga, S., Sep 18 2017, In : Annals of Clinical Microbiology and Antimicrobials. 16, 1, 61.

Research output: Contribution to journalArticle

Toxemia
Botulism
Leukemia
Drug Therapy
Type A Botulinum Toxins
1 Citation (Scopus)

Calcineurin inhibitors exacerbate coronary arteritis via the MyD88 signalling pathway in a murine model of Kawasaki disease

Murata, K., Motomura, Y., Tanaka, T., Kanno, S., Yano, T., Onimaru, M., Shimoyama, A., Nishio, H., Sakai, Y., Ohora, M., Hara, H., Fukase, K., Takada, H., Masuda, S., Ohga, S., Yamasaki, S. & Hara, T., Oct 1 2017, In : Clinical and Experimental Immunology. 190, 1, p. 54-67 14 p.

Research output: Contribution to journalArticle

Arteritis
Mucocutaneous Lymph Node Syndrome
Blood Vessels
Severe Combined Immunodeficiency
Coronary Vessels

Disappearance of globus pallidum lesions in T1-weighted magnetic resonance images after ligation of congenital portosystemic venous shunt

Takemoto, R., Yamamura, K., Nagata, H., Kawaguchi, N., Sakai, Y., Matsuura, T., Taguchi, T. & Ohga, S., Oct 1 2017, In : Pediatrics and Neonatology. 58, 5, p. 465-466 2 p.

Research output: Contribution to journalArticle

Globus Pallidus
Ligation
Magnetic Resonance Spectroscopy
Patent Ductus Venosus
1 Citation (Scopus)

Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: A pilot study

Sagata, N., Kato, T., Kano, S. I., Ohgidani, M., Shimokawa, N., Sato-Kasai, M., Hayakawa, K., Kuwano, N., Wilson, A. M., Ishizuka, K., Kato, S., Nakahara, T., Nakahara-Kido, M., Setoyama, D., Sakai, Y., Ohga, S., Furue, M., Sawa, A. & Kanba, S., Dec 1 2017, In : Scientific reports. 7, 1, 13905.

Research output: Contribution to journalArticle

Neurofibromatosis 1
Gene Expression
Messenger RNA
Phenotype
Induced Pluripotent Stem Cells
20 Citations (Scopus)

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Imagawa, E., Higashimoto, K., Sakai, Y., Numakura, C., Okamoto, N., Matsunaga, S., Ryo, A., Sato, Y., Sanefuji, M., Ihara, K., Takada, Y., Nishimura, G., Saitsu, H., Mizuguchi, T., Miyatake, S., Nakashima, M., Miyake, N., Soejima, H. & Matsumoto, N., Jun 1 2017, In : Human mutation. 38, 6, p. 637-648 12 p.

Research output: Contribution to journalArticle

Polycomb Repressive Complex 2
Ectoderm
Embryonic Development
Missense Mutation
Mutation
1 Citation (Scopus)

Sustained endocrine profiles of a girl with WAGR syndrome

Takada, Y., Sakai, Y., Matsushita, Y., Okubo, K., Koga, Y., Akamine, S., Torio, M., Ishizaki, Y., Sanefuji, M., Torisu, H., Shaw, C. A., Kagami, M., Hara, T. & Ohga, S., Oct 23 2017, In : BMC Medical Genetics. 18, 1, 117.

Research output: Contribution to journalArticle

WAGR Syndrome
Brain-Derived Neurotrophic Factor
Hypoglycemic Agents
Epigenomics
Methylation
2 Citations (Scopus)

Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion

Shono, Y., Kaku, N., Sakai, Y., Yamashita, F., Matsuoka, W., Muraoka, M., Akamine, S., Mizuguchi, S., Torio, M., Motomura, Y., Hirata, Y., Ishizaki, Y., Sanefuji, M., Torisu, H., Takada, H., Maehara, Y. & Ohga, S., Aug 1 2017, In : Brain and Development. 39, 7, p. 621-624 4 p.

Research output: Contribution to journalArticle

Primary Dysautonomias
Brain Diseases
Seizures
Brain Injuries
Brain
2016
7 Citations (Scopus)

Activation of Nod1 signaling induces fetal growth restriction and death through fetal and maternal vasculopathy

Inoue, H., Nishio, H., Takada, H., Sakai, Y., Nanishi, E., Ochiai, M., Onimaru, M., Chen, S. J., Matsui, T. & Hara, T., Mar 15 2016, In : Journal of Immunology. 196, 6, p. 2779-2787 9 p.

Research output: Contribution to journalArticle

Fetal Death
Fetal Development
Nucleotides
Mothers
Fetus
13 Citations (Scopus)

A nationwide survey of pediatric acquired demyelinating syndromes in Japan

Yamaguchi, Y., Torisu, H., Kira, R., Ishizaki, Y., Sakai, Y., Sanefuji, M., Ichiyama, T., Oka, A., Kishi, T., Kimura, S., Kubota, M., Takanashi, J., Takahashi, Y., Tamai, H., Natsume, J., Hamano, S., Hirabayashi, S., Maegaki, Y., Mizuguchi, M., Minagawa, K. & 4 othersYoshikawa, H., Kira, J-I., Kusunoki, S. & Hara, T., Nov 8 2016, In : Neurology. 87, 19, p. 2006-2015 10 p.

Research output: Contribution to journalArticle

Japan
Acute Disseminated Encephalomyelitis
Neuromyelitis Optica
Pediatrics
Multiple Sclerosis
16 Citations (Scopus)

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

Fukai, R., Saitsu, H., Tsurusaki, Y., Sakai, Y., Haginoya, K., Takahashi, K., Hubshman, M. W., Okamoto, N., Nakashima, M., Tanaka, F., Miyake, N. & Matsumoto, N., May 1 2016, In : Journal of Human Genetics. 61, 5, p. 381-387 7 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Seizures
Voltage-Gated Potassium Channels
Mutation
Missense Mutation
10 Citations (Scopus)

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

Fukai, R., Saitsu, H., Okamoto, N., Sakai, Y., Fattal-Valevski, A., Masaaki, S., Kitai, Y., Torio, M., Kojima-Ishii, K., Ihara, K., Chernuha, V., Nakashima, M., Miyatake, S., Tanaka, F., Miyake, N. & Matsumoto, N., May 1 2016, In : Journal of Human Genetics. 61, 5, p. 451-455 5 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Missense Mutation
Mutation
Intellectual Disability
Arthrogryposis
11 Citations (Scopus)

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

Kanemasa, H., Fukai, R., Sakai, Y., Torio, M., Miyake, N., Lee, S., Ono, H., Akamine, S., Nishiyama, K., Sanefuji, M., Ishizaki, Y., Torisu, H., Saitsu, H., Matsumoto, N. & Hara, T., Sep 15 2016, In : BMC Neurology. 16, 1, 174.

Research output: Contribution to journalArticle

Paralysis
Mutation
Exome
Phenotype
Dystonic Disorders
3 Citations (Scopus)

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy

Sakai, Y., Fukai, R., Matsushita, Y., Miyake, N., Saitsu, H., Akamine, S., Torio, M., Sasazuki, M., Ishizaki, Y., Sanefuji, M., Torisu, H., Shaw, C. A., Matsumoto, N. & Hara, T., Jul 1 2016, In : Annals of Human Genetics. 80, 4, p. 235-240 6 p.

Research output: Contribution to journalArticle

Brain Diseases
Mutation
Exome
Chromosome Duplication
Genes
7 Citations (Scopus)

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

Matsushita, Y., Sakai, Y., Shimmura, M., Shigeto, H., Nishio, M., Akamine, S., Sanefuji, M., Ishizaki, Y., Torisu, H., Nakabeppu, Y., Suzuki, A., Takada, H. & Hara, T., Mar 10 2016, In : Scientific reports. 6, 22991.

Research output: Contribution to journalArticle

Pro-Opiomelanocortin
Premature Mortality
Malformations of Cortical Development
Epilepsy
Neurons
3 Citations (Scopus)

Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder

Baldwin, P. R., Curtis, K. N., Patriquin, M. A., Wolf, V., Viswanath, H., Shaw, C., Sakai, Y. & Salas, R., May 1 2016, In : Autism Research. 9, 5, p. 553-562 10 p.

Research output: Contribution to journalArticle

Data Mining
Brain
Prefrontal Cortex
Thalamus
Posterior Thalamic Nuclei
9 Citations (Scopus)

Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion

Lee, S., Sanefuji, M., Torio, M., Kaku, N., Shono, Y., Mizuguchi, S., Baba, H., Sakai, Y., Ishizaki, Y., Torisu, H., Kira, R., Hara, T. & Ohga, S., Nov 15 2016, In : Journal of the Neurological Sciences. 370, p. 39-43 5 p.

Research output: Contribution to journalArticle

Dyskinesias
Brain Diseases
Coma
Seizures
Febrile Seizures
9 Citations (Scopus)

Molecular genetic analysis of 30 families with Joubert syndrome

Suzuki, T., Miyake, N., Tsurusaki, Y., Okamoto, N., Alkindy, A., Inaba, A., Sato, M., Ito, S., Muramatsu, K., Kimura, S., Ieda, D., Saitoh, S., Hiyane, M., Suzumura, H., Yagyu, K., Shiraishi, H., Nakajima, M., Fueki, N., Habata, Y., Ueda, Y. & 18 othersKomatsu, Y., Yan, K., Shimoda, K., Shitara, Y., Mizuno, S., Ichinomiya, K., Sameshima, K., Tsuyusaki, Y., Kurosawa, K., Sakai, Y., Haginoya, K., Kobayashi, Y., Yoshizawa, C., Hisano, M., Nakashima, M., Saitsu, H., Takeda, S. & Matsumoto, N., Dec 1 2016, In : Clinical Genetics. 90, 6, p. 526-535 10 p.

Research output: Contribution to journalArticle

Molecular Biology
Genes
Alleles
Mutation
Exome
2 Citations (Scopus)

Periodic Epileptiform Discharges in Children with Advanced Stages of Progressive Myoclonic Epilepsy

Isobe, N., Sakai, Y., Kira, R., Sanefuji, M., Ishizaki, Y., Sakata, A., Sasazuki, M., Torio, M., Akamine, S., Torisu, H. & Hara, T., Oct 1 2016, In : Clinical EEG and Neuroscience. 47, 4, p. 317-323 7 p.

Research output: Contribution to journalArticle

Progressive Myoclonic Epilepsy
Huntington Disease
Electroencephalography
Neuroimaging
Neurodegenerative Diseases
46 Citations (Scopus)

Phenotypic spectrum of GNAO1 variants: Epileptic encephalopathy to involuntary movements with severe developmental delay

Saitsu, H., Fukai, R., Ben-Zeev, B., Sakai, Y., Mimaki, M., Okamoto, N., Suzuki, Y., Monden, Y., Saito, H., Tziperman, B., Torio, M., Akamine, S., Takahashi, N., Osaka, H., Yamagata, T., Nakamura, K., Tsurusaki, Y., Nakashima, M., Miyake, N., Shiina, M. & 2 othersOgata, K. & Matsumoto, N., Jan 1 2016, In : European Journal of Human Genetics. 24, 1, p. 129-134 6 p.

Research output: Contribution to journalArticle

Dyskinesias
Brain Diseases
Seizures
Corpus Callosum
Intellectual Disability
2015
8 Citations (Scopus)

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

Chong, P. F., Haraguchi, K., Torio, M., Kirino, M., Ogata, R., Matsukura, M., Sakai, Y., Ishizaki, Y., Yamamoto, T. & Kira, R., Jan 1 2015, In : Brain and Development. 37, 1, p. 171-174 4 p.

Research output: Contribution to journalArticle

Goldenhar Syndrome
Comorbidity
Bilateral Hearing Loss
Fourth Ventricle
Pons
5 Citations (Scopus)

Longitudinal study of very low birth weight infants until 9years of age; attention deficit hyperactivity and autistic features are correlated with their cognitive functions

Ochiai, M., Ichiyama, M., Iwayama, M., Sakai, Y., Yoshida, K. & Hara, T., Jan 1 2015, In : Early Human Development. 91, 12, p. 783-786 4 p.

Research output: Contribution to journalArticle

Very Low Birth Weight Infant
Cognition
Longitudinal Studies
Wechsler Scales
Intelligence
26 Citations (Scopus)

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

Okubo, K., Sakai, Y., Inoue, H., Akamine, S., Ishizaki, Y., Matsushita, Y., Sanefuji, M., Torisu, H., Ihara, K., Sardiello, M. & Hara, T., Aug 17 2015, In : Scientific reports. 5, 13191.

Research output: Contribution to journalArticle

Moyamoya Disease
Disease Susceptibility
Endothelial Cells
Genes
Circle of Willis
2014
2 Citations (Scopus)

Altered strategy in short-term memory for pictures in children with attention-deficit/hyperactivity disorder: A near-infrared spectroscopy study

Sanefuji, M., Yamashita, H., Torisu, H., Takada, Y., Imanaga, H., Matsunaga, M., Ishizaki, Y., Sakai, Y., Yoshida, K. & Hara, T., Jul 30 2014, In : Psychiatry Research - Neuroimaging. 223, 1, p. 37-42 6 p.

Research output: Contribution to journalArticle

Near-Infrared Spectroscopy
Attention Deficit Disorder with Hyperactivity
Short-Term Memory
Aptitude
Methylphenidate
9 Citations (Scopus)

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes

Torisu, H., Watanabe, K., Shimojima, K., Sugawara, M., Sanefuji, M., Ishizaki, Y., Sakai, Y., Yamashita, H., Yamamoto, T. & Hara, T., Jan 1 2014, In : Brain and Development. 36, 4, p. 342-345 4 p.

Research output: Contribution to journalArticle

Partial Epilepsy
Seizures
Mutation
Epilepsy
Electroencephalography
16 Citations (Scopus)

Kawasaki disease-specific molecules in the sera are linked to microbe-associated molecular patterns in the biofilms

Kusuda, T., Nakashima, Y., Murata, K., Kanno, S., Nishio, H., Saito, M., Tanaka, T., Yamamura, K., Sakai, Y., Takada, H., Miyamoto, T., Mizuno, Y., Ouchi, K., Waki, K. & Hara, T., Nov 20 2014, In : PloS one. 9, 11, 0113054.

Research output: Contribution to journalArticle

Mucocutaneous Lymph Node Syndrome
Yersinia pseudotuberculosis
Biofilms
Bacillus cereus
biofilm