Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms von Maegawa, Tatsuya, Akagawa, Hiroyuki, Onda, Hideaki, Kasuya, Hidetoshi

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RNF213 Gene Variants in Moyamoya Disease: Questions Remain Unanswered von Hara, Shoko, Akagawa, Hiroyuki, Nariai, Tadashi

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A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2 von Tanaka, Satoshi, Akagawa, Hiroyuki, Azuma, Kenkou, Watanabe, Kaoru, Higuchi, Sayaka, Iwasaki, Naoko

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Dystonic Tremor in Adult-onset DYT-KMT2B von Shimazaki, Rui, Ikezawa, Jun, Okiyama, Ryoichi, Azuma, Kenko, Akagawa, Hiroyuki, Takahashi, Kazushi

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Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease von THAMAMONGOOD, Thiparpa, HARA, Shoko, AKAGAWA, Hiroyuki, INAJI, Motoki, TANAKA, Yoji, NARIAI, Tadashi, MAEHARA, Taketoshi

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Letter to the Editor. Influence of rare RNF213 variants other than p.R4810K on the clinical outcomes of moyamoya disease von Nomura, Shunsuke, Kawashima, Akitsugu, Akagawa, Hiroyuki, Kawamata, Takakazu

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Impact of kidney function and kidney volume on intracranial aneurysms in patients with autosomal dominant polycystic kidney disease von Kataoka, Hiroshi, Akagawa, Hiroyuki, Yoshida, Rie, Iwasa, Naomi, Ushio, Yusuke, Akihisa, Taro, Sato, Masayo, Manabe, Shun, Makabe, Shiho, Kawachi, Keiko, Hoshino, Junichi, Tsuchiya, Ken, Nitta, Kosaku, Mochizuki, Toshio

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Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation von Moteki, Yosuke, Akagawa, Hiroyuki, Niimi, Yasunari, Okada, Yoshikazu, Kawamata, Takakazu

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Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome von Nakamura, Akikazu, Nomura, Shunsuke, Hara, Shoko, Thamamongood, Thiparpa, Maehara, Taketoshi, Nariai, Tadashi, Khairullah, Shasha, Tan, Kay Sin, Azuma, Kenko, Chida‐Nagai, Ayako, Furutani, Yoshiyuki, Hori, Takahiro, Yamaguchi, Koji, Kawamata, Takakazu, Roder, Constantin, Akagawa, Hiroyuki

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Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease von Yamamoto-Shimojima, Keiko, Akagawa, Hiroyuki, Yanagi, Kumiko, Kaname, Tadashi, Okamoto, Nobuhiko, Yamamoto, Toshiyuki

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Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy von Murakami, Masato, Horisawa, Shiro, Azuma, Kenko, Akagawa, Hiroyuki, Nonaka, Taku, Kawamata, Takakazu, Taira, Takaomi

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Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease von Moteki, Yosuke, Onda, Hideaki, Kasuya, Hidetoshi, Yoneyama, Taku, Okada, Yoshikazu, Hirota, Kengo, Mukawa, Maki, Nariai, Tadashi, Mitani, Shohei, Akagawa, Hiroyuki

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Cryobiopsy with endobronchial ultrasonography using a guide sheath for peripheral pulmonary lesions and DNA analysis by next generation sequencing and rapid on-site evaluation von Arimura, Ken, Tagaya, Etsuko, Akagawa, Hiroyuki, Nagashima, Yoji, Shimizu, Satoru, Atsumi, Yoshihide, Sato, Akitoshi, Kanzaki, Masato, Kondo, Mitsuko, Takeyama, Kiyoshi, Massion, Pierre P., Tamaoki, Jun

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Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis von Chida-Nagai, Ayako, Akagawa, Hiroyuki, Sawai, Saori, Ma, Yue-Jiao, Yakuwa, Satoshi, Muneuchi, Jun, Yasuda, Kazushi, Yamazawa, Hirokuni, Yamamoto, Toshiyuki, Takakuwa, Emi, Tomaru, Utano, Furutani, Yoshiyuki, Kato, Tatsuya, Harada, Gen, Inai, Kei, Nakanishi, Toshio, Manabe, Atsushi, Takeda, Atsuhito, Jing, Zhi-Cheng

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Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension von Chida-Nagai, Ayako, Shintani, Masaki, Sato, Hiroki, Nakayama, Tomotaka, Nii, Masaki, Akagawa, Hiroyuki, Furukawa, Toru, Rana, Amer, Furutani, Yoshiyuki, Inai, Kei, Nonoyama, Shigeaki, Nakanishi, Toshio

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Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients von Mochizuki, Toshio, Teraoka, Atsuko, Akagawa, Hiroyuki, Makabe, Shiho, Akihisa, Taro, Sato, Masayo, Kataoka, Hiroshi, Mitobe, Michihiro, Furukawa, Toru, Tsuchiya, Ken, Nitta, Kosaku

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Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis? von Nomura, Shunsuke, Aihara, Yasuo, Akagawa, Hiroyuki, Chiba, Kentaro, Yamaguchi, Koji, Kawashima, Akitsugu, Okada, Yoshikazu, Kawamata, Takakazu

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Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis von Nakahara, Erina, Yamamoto, Keiko Shimojima, Ogura, Hiromi, Aoki, Takako, Utsugisawa, Taiju, Azuma, Kenko, Akagawa, Hiroyuki, Watanabe, Kenichiro, Muraoka, Michiko, Nakamura, Fumihiko, Kamei, Michi, Tatebayashi, Koji, Shinozuka, Jun, Yamane, Takahisa, Hibino, Makoto, Katsura, Yoshiya, Nakano-Akamatsu, Sonoko, Kadowaki, Norimitsu, Maru, Yoshiro, Ito, Etsuro, Ohga, Shouichi, Yagasaki, Hiroshi, Morioka, Ichiro, Yamamoto, Toshiyuki, Kanno, Hitoshi

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Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases von Horisawa, Shiro, Azuma, Kenkou, Akagawa, Hiroyuki, Nonaka, Taku, Kawamata, Takakazu, Taira, Takaomi

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Mutation Type and Intracranial Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease von Kataoka, Hiroshi, Akagawa, Hiroyuki, Ushio, Yusuke, Sato, Masayo, Manabe, Shun, Makabe, Shiho, Kawachi, Keiko, Akihisa, Taro, Iwasa, Naomi, Yoshida, Rie, Tsuchiya, Ken, Nitta, Kosaku, Mochizuki, Toshio

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