Kazuyuki Nakamura

发表

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

T. Hara, T. Matsuishi, A. Takata, 2018, Cell reports.

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

Masahiro Ito, M. Kubota, N. Matsumoto, 2021, Brain and Development.

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

E. Leshinsky‐Silver, D. Lev, N. Matsumoto, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

Naomichi Matsumoto, Nobuhiko Okamoto, Yukifumi Monden, 2015, European Journal of Human Genetics.

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

K. Yokochi, N. Matsumoto, T. Okanishi, 2014, Brain and Development.

Clinical and genetic characteristics of patients with Doose syndrome

N. Matsumoto, H. Ikeda, Y. Maegaki, 2020, Epilepsia open.

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

Annapurna, Wierenga, E. Roeder, 2018 .

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Takeshi Nakajima, H. Mizukami, Mitsuhiro Kato, 2019, Brain : a journal of neurology.

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

T. Walsh, M. King, Ming K. Lee, 2013, Epilepsia.

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

O. Ohara, T. Awaya, T. Heike, 2014, Rheumatology.

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

Naomichi Matsumoto, Masaya Kubota, Mitsuhiro Kato, 2013, American journal of human genetics.

De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy

Y. Wada, N. Matsumoto, Y. Maegaki, 2013, Human mutation.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

Whole genome sequencing of 45 Japanese patients with intellectual disability

Y. Kamatani, M. Kubo, Y. Momozawa, 2021, American journal of medical genetics. Part A.

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

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

S. Weiss, D. Chitayat, H. Arai, 2013, Epilepsia.

Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification

Mitsuhiro Kato, Kazuyuki Nakamura, K. Hayasaka, 2012, Journal of child neurology.

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

M. Kubota, Kazuyuki Nakamura, Yoshinori Ito, 2009, Brain and Development.

[Epileptic encephalopathy associated with forced normalization after administration of levetiracetam].

Mitsuhiro Kato, Kazuyuki Nakamura, K. Hayasaka, 2013, No to hattatsu = Brain and development.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Colin A. Johnson, S. Antonarakis, N. Matsumoto, 2016, American journal of human genetics.

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

A. Takata, N. Matsumoto, M. Shiina, 2019, American journal of human genetics.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

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

Katsuhiro Kobayashi, T. Akiyama, H. Yoshinaga, 2017, Clinica chimica acta; international journal of clinical chemistry.

Molecular diagnosis of 405 individuals with autism spectrum disorder

T. Hara, T. Matsuishi, A. Fattal-Valevski, 2023, European journal of human genetics : EJHG.

Monogenic causes of pigmentary mosaicism

H. Asada, N. Matsumoto, N. Miyake, 2022, Human Genetics.

De novo ATP1A3 variants cause polymicrogyria

T. Tsunoda, T. Hara, A. Takata, 2021, Science Advances.

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

N. Matsumoto, T. Kinoshita, N. Miyake, 2014, Epilepsia.

Kyoko Takano, H. Ikeda, Mitsuhiro Kato, 2013, Epilepsy Research.

Respiratory syncytial virus‐associated encephalopathy complicated by congenital myopathy

T. Shiihara, Mitsuhiro Kato, Kazuyuki Nakamura, 2012, Pediatrics international : official journal of the Japan Pediatric Society.

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2015, Pediatric Neurology.

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

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

Compound heterozygous PMP22 deletion mutations causing severe Charcot–Marie–Tooth disease type 1

Mitsuhiro Kato, Kazuyuki Nakamura, Chizuru Seiwa, 2010, Journal of Human Genetics.

Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome

Mitsuhiro Kato, Kazuyuki Nakamura, H. Saitsu, 2023, Annals of human genetics.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy

Y. Wada, N. Matsumoto, Y. Maegaki, 2013, Human mutation.