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1.

α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial.

Harmatz, Paul; Giugliani, Roberto; Martins, Ana Maria; Hamazaki, Takashi; Kubo, Toru; Kira, Ryutaro; Minami, Kohtaro; Ikeda, Toshiaki; Moriuchi, Hiroaki; Kawashima, Satoshi; Takasao, Naoko; So, Sairei; Sonoda, Hiroyuki; Hirato, Tohru; Tanizawa, Kazunori; Schmidt, Mathias; Sato, Yuji.

Mol Ther; 32(3): 609-618, 2024 Mar 06.

Artículo en Inglés | MEDLINE | ID: mdl-38204164

2.

Heterogeneity and mitochondrial vulnerability configurate the divergent immunoreactivity of human induced microglia-like cells.

Yonemoto, Kousuke; Fujii, Fumihiko; Taira, Ryoji; Ohgidani, Masahiro; Eguchi, Katsuhide; Okuzono, Sayaka; Ichimiya, Yuko; Sonoda, Yuri; Chong, Pin Fee; Goto, Hironori; Kanemasa, Hikaru; Motomura, Yoshitomo; Ishimura, Masataka; Koga, Yuhki; Tsujimura, Keita; Hashiguchi, Takao; Torisu, Hiroyuki; Kira, Ryutaro; Kato, Takahiro A; Sakai, Yasunari; Ohga, Shouichi.

Clin Immunol; 255: 109756, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37678717

3.

Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.

Yuan, Jun-Hui; Cheng, Xiaoyang; Matsuura, Eiji; Higuchi, Yujiro; Ando, Masahiro; Hashiguchi, Akihiro; Yoshimura, Akiko; Nakachi, Ryo; Mine, Jun; Taketani, Takeshi; Maeda, Kenichi; Kawakami, Saori; Kira, Ryutaro; Tanaka, Shoko; Kanai, Kazuaki; Dib-Hajj, Fadia; Dib-Hajj, Sulayman D; Waxman, Stephen G; Takashima, Hiroshi.

J Peripher Nerv Syst; 28(4): 597-607, 2023 12.

Artículo en Inglés | MEDLINE | ID: mdl-37555797

4.

Long-lasting pain and somatosensory disturbances in children with myelin oligodendrocyte glycoprotein antibody-associated disease.

Ichimiya, Yuko; Chong, Pin Fee; Sonoda, Yuri; Tocan, Vlad; Watanabe, Mitsuru; Torisu, Hiroyuki; Kira, Ryutaro; Takahashi, Toshiyuki; Kira, Jun-Ichi; Isobe, Noriko; Sakai, Yasunari; Ohga, Shouichi.

Eur J Pediatr; 182(7): 3175-3185, 2023 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-37119299

5.

Monogenic causes of pigmentary mosaicism.

Saida, Ken; Chong, Pin Fee; Yamaguchi, Asuka; Saito, Naka; Ikehara, Hajime; Koshimizu, Eriko; Miyata, Rie; Ishiko, Akira; Nakamura, Kazuyuki; Ohnishi, Hidenori; Fujioka, Kei; Sakakibara, Takafumi; Asada, Hideo; Ogawa, Kohei; Kudo, Kyoko; Ohashi, Eri; Kawai, Michiko; Abe, Yuichi; Tsuchida, Naomi; Uchiyama, Yuri; Hamanaka, Kohei; Fujita, Atsushi; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Kato, Mitsuhiro; Kira, Ryutaro; Matsumoto, Naomichi.

Hum Genet; 141(11): 1771-1784, 2022 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-35503477

6.

Acute flaccid myelitis: cause, diagnosis, and management.

Murphy, Olwen C; Messacar, Kevin; Benson, Leslie; Bove, Riley; Carpenter, Jessica L; Crawford, Thomas; Dean, Janet; DeBiasi, Roberta; Desai, Jay; Elrick, Matthew J; Farias-Moeller, Raquel; Gombolay, Grace Y; Greenberg, Benjamin; Harmelink, Matthew; Hong, Sue; Hopkins, Sarah E; Oleszek, Joyce; Otten, Catherine; Sadowsky, Cristina L; Schreiner, Teri L; Thakur, Kiran T; Van Haren, Keith; Carballo, Carolina M; Chong, Pin Fee; Fall, Amary; Gowda, Vykuntaraju K; Helfferich, Jelte; Kira, Ryutaro; Lim, Ming; Lopez, Eduardo L; Wells, Elizabeth M; Yeh, E Ann; Pardo, Carlos A.

Lancet; 397(10271): 334-346, 2021 01 23.

Artículo en Inglés | MEDLINE | ID: mdl-33357469

7.

The clinical characteristics of pediatric coronavirus disease 2019 in 2020 in Japan.

Katsuta, Tomohiro; Shimizu, Naoki; Okada, Kenji; Tanaka-Taya, Keiko; Nakano, Takashi; Kamiya, Hajime; Amo, Kiyoko; Ishiwada, Naruhiko; Iwata, Satoshi; Oshiro, Makoto; Okabe, Nobuhiko; Kira, Ryutaro; Korematsu, Seigo; Suga, Shigeru; Tsugawa, Takeshi; Nishimura, Naoko; Hishiki, Haruka; Fujioka, Masashi; Hosoya, Mitsuaki; Mizuno, Yumi; Mine, Mahito; Miyairi, Isao; Miyazaki, Chiaki; Morioka, Ichiro; Morishima, Tsuneo; Yoshikawa, Tetsushi; Wada, Taizo; Azuma, Hiroshi; Kusuhara, Koichi; Ouchi, Kazunobu; Saitoh, Akihiko; Moriuchi, Hiroyuki.

Pediatr Int; 64(1): e14912, 2022 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-34233075

8.

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.

Miyamoto, Sachiko; Kato, Mitsuhiro; Hiraide, Takuya; Shiohama, Tadashi; Goto, Tomohide; Hojo, Akira; Ebata, Akio; Suzuki, Manabu; Kobayashi, Kozue; Chong, Pin Fee; Kira, Ryutaro; Matsushita, Hiroko Baber; Ikeda, Hiroko; Hoshino, Kyoko; Matsufuji, Mayumi; Moriyama, Nobuko; Furuyama, Masayuki; Yamamoto, Tatsuya; Nakashima, Mitsuko; Saitsu, Hirotomo.

J Hum Genet; 66(11): 1061-1068, 2021 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-33958710

9.

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

Yigit, Gökhan; Saida, Ken; DeMarzo, Danielle; Miyake, Noriko; Fujita, Atsushi; Yang Tan, Tiong; White, Susan M; Wadley, Alexandrea; Toliat, Mohammad R; Motameny, Susanne; Franitza, Marek; Stutterd, Chloe A; Chong, Pin F; Kira, Ryutaro; Sengoku, Toru; Ogata, Kazuhiro; Guillen Sacoto, Maria J; Fresen, Christine; Beck, Bodo B; Nürnberg, Peter; Dieterich, Christoph; Wollnik, Bernd; Matsumoto, Naomichi; Altmüller, Janine.

Hum Mutat; 41(3): 591-599, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31821646

10.

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.

Nakashima, Mitsuko; Kato, Mitsuhiro; Matsukura, Masaru; Kira, Ryutaro; Ngu, Lock-Hock; Lichtenbelt, Klaske D; van Gassen, Koen L I; Mitsuhashi, Satomi; Saitsu, Hirotomo; Matsumoto, Naomichi.

J Hum Genet; 65(9): 727-734, 2020 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-32341456

11.

Disseminated cortical and subcortical lesions in neonatal enterovirus 71 encephalitis.

Nakamura, Ryoko; Chong, Pin Fee; Haraguchi, Kohei; Katano, Harutaka; Tanaka-Taya, Keiko; Kira, Ryutaro.

J Neurovirol; 26(5): 790-792, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32671810

12.

Subcortical axonal loss with glial reactions following partial status epilepticus with neuroradiological findings of reduced subcortical diffusion.

Lee, Sooyoung; Morioka, Takato; Chong, Pin Fee; Suzuki, Satoshi O; Imagi, Toru; Murakami, Nobuya; Baba, Hiroshi; Kira, Ryutaro.

Neurol Sci; 40(4): 851-855, 2019 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-30443827

13.

Surgical histopathology of limited dorsal myeloschisis with flat skin lesion.

Morioka, Takato; Suzuki, Satoshi O; Murakami, Nobuya; Mukae, Nobutaka; Shimogawa, Takafumi; Haruyama, Hironori; Kira, Ryutaro; Iihara, Koji.

Childs Nerv Syst; 35(1): 119-128, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-29934704

14.

Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August-December 2015.

Chong, Pin Fee; Kira, Ryutaro; Mori, Harushi; Okumura, Akihisa; Torisu, Hiroyuki; Yasumoto, Sawa; Shimizu, Hiroyuki; Fujimoto, Tsuguto; Hanaoka, Nozomu; Kusunoki, Susumu; Takahashi, Toshiyuki; Oishi, Kazunori; Tanaka-Taya, Keiko.

Clin Infect Dis; 66(5): 653-664, 2018 02 10.

Artículo en Inglés | MEDLINE | ID: mdl-29028962

15.

Mulberries in the urine: a tell-tale sign of Fabry disease.

Chong, Pin Fee; Nakamura, Kimitoshi; Kira, Ryutaro.

J Inherit Metab Dis; 41(4): 745-746, 2018 07.

Artículo en Inglés | MEDLINE | ID: mdl-29488049

16.

Venous anomaly analogous to vertical embryonic positioning of the straight sinus associated with atretic cephalocele at the suboccipital region.

Murakami, Nobuya; Morioka, Takato; Kawamura, Nobuko; Suzuki, Satoshi O; Kira, Ryutaro.

Childs Nerv Syst; 33(1): 179-182, 2017 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-27262313

17.

[Successful treatment with topiramate in a case of idiopathic intracranial hypertension refractory to acetazolamide].

Noda, Marie; Sonoda, Yuri; Takemoto, Megumi; Kira, Ryutaro.

No To Hattatsu; 49(3): 207-10, 2017 05.

Artículo en Japonés | MEDLINE | ID: mdl-30113799

18.

Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0.

Maeda, Kenichi; Chong, Pin Fee; Yamashita, Fumiya; Akamine, Satoshi; Kawakami, Saori; Saito, Kayoko; Takahata, Yasushi; Kira, Ryutaro.

Ann Neurol; 86(5): 801-802, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31502271

19.

Letter to the Editor.

Chong, Pin F; Kira, Ryutaro.

J Paediatr Child Health; 56(2): 348-349, 2020 02.

Artículo en Inglés | MEDLINE | ID: mdl-32045130

20.

Influenza-associated encephalopathy with focal late reduced diffusion circumscribing a pre-existing cortical lesion.

Maeda, Kenichi; Chong, Pin Fee; Yamashita, Fumiya; Akamine, Satoshi; Kawakami, Saori; Lee, Sooyoung; Kira, Ryutaro.

J Neuroradiol; 47(3): 241-243, 2020 May.

Artículo en Inglés | MEDLINE | ID: mdl-32035073

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