Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder, CELL REPORTS, 22(3) 734-747, 2018.01

Takata Atsushi, Miyake Noriko, Tsurusaki Yoshinori, Fukai Ryoko, Miyatake Satoko, Koshimizu Eriko, Kushima Itaru, Okada Takashi, Morikawa Mako, Uno Yota, Ishizuka Kanako, Nakamura Kazuhiko, Tsujii Mas...

Multiple Authorship (Only Japanese)

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly., Nat Genet, 49(10) 1529-1538, 2017.10

Braun Daniela A, Rao Jia, Mollet Geraldine, Schapiro David, Daugeron Marie-Claire, Tan Weizhen, Gribouval Olivier, Boyer Olivia, Revy Patrick, Jobst-Schwan Tilman, Schmidt Johanna Magdalena, Lawson Je...

Multiple Authorship (Only Japanese)

Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children., Clin Chim Acta, 465 5-10, 2017.02

Akiyama Tomoyuki, Hayashi Yumiko, Hanaoka Yoshiyuki, Shibata Takashi, Akiyama Mari, Nakamura Kazuyuki, Tsuyusaki Yu, Kubota Masaya, Yoshinaga Harumi, Kobayashi Katsuhiro

Multiple Authorship (Only Japanese)

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia., Am J Hum Genet, 98(4) 615-626, 2016.04

Makrythanasis Periklis, Kato Mitsuhiro, Zaki Maha S, Saitsu Hirotomo, Nakamura Kazuyuki, Santoni Federico A, Miyatake Satoko, Nakashima Mitsuko, Issa Mahmoud Y, Guipponi Michel, Letourneau Audrey, Log...

Multiple Authorship (Only Japanese)

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay, European Journal of Human Genetics, 2015.05

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, Miyak...

Multiple Authorship (Including Foreigners)

Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM., Pediatric neurology, 52(5) e7-e8, 2015.05

Nakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M.

Multiple Authorship (Including Foreigners)

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings, European Journal of Paediatric Neurology, 18(5) 567-571, 2014.09

Zerem A, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T

Multiple Authorship (Including Foreigners)

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels, Epilepsia, 55(2) e13-e17, 2014.01

Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H

Multiple Authorship (Including Foreigners)

A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study., Rheumatology, 53(3) 448-458, 2013.12

Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, F...

Multiple Authorship (Including Foreigners)

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy., Human mutation, 34(12) 1708-1714, 2013.12

Kodera H*, Nakamura K*, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumo...

Multiple Authorship (Including Foreigners)

PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy. , Epilepsy research, 106(1) 191-199, 2013.09

Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh ...

Multiple Authorship (Including Foreigners)

Epileptic encephalopathy associated with forced normalization after administration of levetiracetam, 45(5) 375-378, 2013.09

T Kikuchi, M Kato, N Takahashi, K Nakamura, K Hayasaka

Multiple Authorship (Only Japanese)

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy., Epilepsia, 54(7) 1262-1269, 2013.07

Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nish...

Multiple Authorship (Including Foreigners)

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. , Epilepsia, 54(7) 1282-1287, 2013.07

Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kod...

Multiple Authorship (Including Foreigners)

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. , Clinical genetics, 85(4) 396-398, 2013.06

Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H

Multiple Authorship (Including Foreigners)

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot, Brain & development, 36(3) 271-273, 2013.04

Nakamura K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H, Jinnou H, Ohki S, Yokochi K, Okanishi T, Enoki H.

Multiple Authorship (Including Foreigners)

Respiratory syncytial virus-associated encephalopathy complicated by congenital myopath, Pediatrics International, 54(5) 709-711, 2012.09

Nakamura K, Kato M, Sasaki A, Kanai M, Hayasaka K

Multiple Authorship (Including Foreigners)

Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification, Journal of child neurology, 27(2) 218-221, 2012.02

Nakamura K, Kato M, Sasaki A, Kanai M, Hayasaka K.

Multiple Authorship (Including Foreigners)

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1, Journal of human genetics, 55(11) 771-773, 2010.11

Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K

Multiple Authorship (Including Foreigners)

Serum and cerebrospinal fluid levels of cytokines in acute encephalopathy associated with human herpesvirus-6 infection, Brain and Development, 31(10) 731-738, 2009.11

Ichiyama T, Ito Y, Kubota M, Yamazaki T, Nakamura K, Furukawa S

Multiple Authorship (Including Foreigners)