Works by Akagawa, Hiroyuki

Results: 34

A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation.

Published in:

2019

By:

Akagawa, Hiroyuki;
Onda, Hideaki;
Nomura, Shunsuke;
Shinohara, Toyoaki;
Kasuya, Hidetoshi

Publication type:

Case Study

Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2047, doi. 10.1002/acn3.51170

By:

Horisawa, Shiro;
Azuma, Kenkou;
Akagawa, Hiroyuki;
Nonaka, Taku;
Kawamata, Takakazu;
Taira, Takaomi

Publication type:

Article

Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients.

Published in:

Journal of Neurosurgery: Pediatrics, 2022, v. 29, n. 1, p. 48, doi. 10.3171/2021.7.PEDS21250

By:

Shoko Hara;
Maki Mukawa;
Hiroyuki Akagawa;
Thamamongood, Thiparpa;
Motoki Inaji;
Yoji Tanaka;
Taketoshi Maehara;
Hidetoshi Kasuya;
Tadashi Nariai

Publication type:

Article

Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension.

Published in:

PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0211450

By:

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

Publication type:

Article

Influence of rare RNF213 variants other than p.R4810K on the clinical outcomes of moyamoya disease.

Published in:

Journal of Neurosurgery, 2018, v. 129, n. 2, p. 563, doi. 10.3171/2018.1.JNS173211

By:

Shunsuke Nomura;
Akitsugu Kawashima;
Hiroyuki Akagawa;
Takakazu Kawamata

Publication type:

Article

Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00312-4

By:

Tanaka, Satoshi;
Akagawa, Hiroyuki;
Hase, Michiyo;
Iwasaki, Naoko

Publication type:

Article

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00235-y

By:

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

Publication type:

Article

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00144-y

By:

Yamamoto-Shimojima, Keiko;
Akagawa, Hiroyuki;
Yanagi, Kumiko;
Kaname, Tadashi;
Okamoto, Nobuhiko;
Yamamoto, Toshiyuki

Publication type:

Article

Gene expression in a canine basilar artery vasospasm model: a genome-wide network-based analysis.

Published in:

Neurosurgical Review, 2008, v. 31, n. 3, p. 283, doi. 10.1007/s10143-008-0135-7

By:

Sasahara, Atsushi;
Kasuya, Hidetoshi;
Krischek, Boris;
Tajima, Atsushi;
Onda, Hideaki;
Sasaki, Toshiyuki;
Akagawa, Hiroyuki;
Hori, Tomokatsu;
Inoue, Ituro

Publication type:

Article

Increased expression of ephrin A1 in brain arteriovenous malformation: DNA microarray analysis.

Published in:

Neurosurgical Review, 2007, v. 30, n. 4, p. 299, doi. 10.1007/s10143-007-0087-3

By:

Sasahara, Atsushi;
Kasuya, Hidetoshi;
Akagawa, Hiroyuki;
Ujiie, Hiroshi;
Kubo, Osami;
Sasaki, Toshiyuki;
Onda, Hideaki;
Sakamoto, Yoshiko;
Krischek, Boris;
Hori, Tomokatsu;
Inoue, Ituro

Publication type:

Article

Network-based gene expression analysis of vascular wall of juvenile Moyamoya disease.

Published in:

Child's Nervous System, 2015, v. 31, n. 3, p. 399, doi. 10.1007/s00381-014-2605-2

By:

Okami, Nobuya;
Aihara, Yasuo;
Akagawa, Hiroyuki;
Yamaguchi, Koji;
Kawashima, Akitsugu;
Yamamoto, Toshiyuki;
Okada, Yoshikazu

Publication type:

Article

Is there any evidence for linkage on chromosome 17cen in affected Japanese sib-pairs with an intracranial aneurysm?

Published in:

Journal of Human Genetics, 2006, v. 51, n. 5, p. 491, doi. 10.1007/s10038-006-0379-4

By:

Krischek, Boris;
Narita, Akira;
Akagawa, Hiroyuki;
Kasuya, Hidetoshi;
Tajima, Atsushi;
Onda, Hideaki;
Yoneyama, Taku;
Hori, Tomokatsu;
Inoue, Ituro

Publication type:

Article

Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 6, p. 309, doi. 10.1007/s10038-003-0030-6

By:

Yoneyama, Taku;
Kasuya, Hidetoshi;
Onda, Hideaki;
Akagawa, Hiroyuki;
Jinnai, Nobuyoshi;
Nakajima, Toshiaki;
Hori, Tomokatsu;
Inoue, Ituro

Publication type:

Article

High prevalence of copy number variations in the Japanese participants with suspected MODY.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 293, doi. 10.1111/cge.14544

By:

Tanaka, Satoshi;
Akagawa, Hiroyuki;
Azuma, Kenkou;
Higuchi, Sayaka;
Ujiie, Atsushi;
Hashimoto, Koshi;
Iwasaki, Naoko

Publication type:

Article

Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 543, doi. 10.1111/cge.14483

By:

Morita, Shuhei;
Nomura, Shunsuke;
Azuma, Kenko;
Chida‐Nagai, Ayako;
Furutani, Yoshiyuki;
Inai, Kei;
Inoue, Tatsuya;
Niimi, Yasunari;
Iizuka, Yuo;
Tsutsumi, Yoshiyuki;
Ishizaki, Reina;
Yamagishi, Hiroyuki;
Kawamata, Takakazu;
Akagawa, Hiroyuki

Publication type:

Article

Loss‐of‐function mutations in SGCE found in Japanese patients with myoclonus‐dystonia.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 209, doi. 10.1111/cge.14233

By:

Azuma, Kenko;
Horisawa, Shiro;
Mashimo, Hideaki;
Fukuda, Mitsumasa;
Kumada, Satoko;
Kawamata, Takakazu;
Taira, Takaomi;
Akagawa, Hiroyuki

Publication type:

Article

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 521, doi. 10.1002/ajmg.a.61432

By:

Yamamoto‐Shimojima, Keiko;
Imaizumi, Taichi;
Akagawa, Hiroyuki;
Kanno, Hitoshi;
Yamamoto, Toshiyuki

Publication type:

Article

Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms.

Published in:

Human Genetics, 2007, v. 121, n. 3/4, p. 377, doi. 10.1007/s00439-007-0333-3

By:

Akagawa, Hiroyuki;
Narita, Akira;
Yamada, Haruhiko;
Tajima, Atsushi;
Krischek, Boris;
Kasuya, Hidetoshi;
Hori, Tomokatsu;
Kubota, Motoo;
Saeki, Naokatsu;
Hata, Akira;
Mizutani, Tohru;
Inoue, Ituro

Publication type:

Article

Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease.

Published in:

Cerebrovascular Diseases, 2019, v. 47, n. 3/4, p. 105, doi. 10.1159/000499699

By:

Nomura, Shunsuke;
Yamaguchi, Koji;
Akagawa, Hiroyuki;
Kawashima, Akitsugu;
Moteki, Yosuke;
Ishikawa, Tatsuya;
Aihara, Yasuo;
Saito, Taiichi;
Okada, Yoshikazu;
Kawamata, Takakazu

Publication type:

Article

Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.

Published in:

Journal of the American Heart Association, 2024, v. 13, n. 9, p. 1, doi. 10.1161/JAHA.123.032872

By:

Ayako Chida-Nagai;
Hiroyuki Akagawa;
Saori Sawai;
Yue-Jiao Ma;
Satoshi Yakuwa;
Jun Muneuchi;
Kazushi Yasuda;
Hirokuni Yamazawa;
Toshiyuki Yamamoto;
Emi Takakuwa;
Utano Tomaru;
Yoshiyuki Furutani;
Tatsuya Kato;
Gen Harada;
Kei Inai;
Toshio Nakanishi;
Atsushi Manabe;
Atsuhito Takeda;
Zhi-Cheng Jing

Publication type:

Article

A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 10, p. 1722, doi. 10.1093/hmg/ddl096

By:

Akagawa, Hiroyuki;
Tajima, Atsushi;
Sakamoto, Yoshiko;
Krischek, Boris;
Yoneyama, Taku;
Kasuya, Hidetoshi;
Onda, Hideaki;
Hori, Tomokatsu;
Kubota, Motoo;
Machida, Toshio;
Saeki, Naokatsu;
Hata, Akira;
Hashiguchi, Kazunari;
Kimura, Eizou;
Kim, Chul-Jin;
Yang, Tae-Ki;
Lee, Jong-Young;
Kimm, Kuchan;
Inoue, Ituro

Publication type:

Article

Factors associated with early-onset intracranial aneurysms in patients with autosomal dominant polycystic kidney disease.

Published in:

Journal of Nephrology (JNonline), 2024, v. 37, n. 4, p. 983, doi. 10.1007/s40620-023-01866-8

By:

Ushio, Yusuke;
Kataoka, Hiroshi;
Akagawa, Hiroyuki;
Sato, Masayo;
Manabe, Shun;
Kawachi, Keiko;
Makabe, Shiho;
Akihisa, Taro;
Seki, Momoko;
Teraoka, Atsuko;
Iwasa, Naomi;
Yoshida, Rie;
Tsuchiya, Ken;
Nitta, Kosaku;
Hoshino, Junichi;
Mochizuki, Toshio

Publication type:

Article

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.

Published in:

2015

By:

Moteki, Yosuke;
Onda, Hideaki;
Kasuya, Hidetoshi;
Yoneyama, Taku;
Okada, Yoshikazu;
Hirota, Kengo;
Mukawa, Maki;
Nariai, Tadashi;
Mitani, Shohei;
Akagawa, Hiroyuki

Publication type:

journal article

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-72043-5

By:

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

Publication type:

Article

Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.789468

By:

Murakami, Masato;
Horisawa, Shiro;
Azuma, Kenko;
Akagawa, Hiroyuki;
Nonaka, Taku;
Kawamata, Takakazu;
Taira, Takaomi

Publication type:

Article

Spontaneous regression together with increased calcification of incidental meningioma.

Published in:

2014

By:

Kengo Hirota;
Toshiyuki Fujita;
Hiroyuki Akagawa;
Hideaki Onda;
Hidetoshi Kasuya

Publication type:

Case Study

Surgical Options and Genetic Screening of a Patient With Moyamoya Disease Harboring the RNF213 p.R4180 K Homozygous Variant.

Published in:

2020

By:

Nomura, Shunsuke;
Akagawa, Hiroyuki;
Yamaguchi, Koji;
Kawashima, Akitsugu;
Kawamata, Takakazu

Publication type:

Letter

Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.

Published in:

Clinical & Experimental Nephrology, 2019, v. 23, n. 8, p. 1022, doi. 10.1007/s10157-019-01736-3

By:

Mochizuki, Toshio;
Teraoka, Atsuko;
Akagawa, Hiroyuki;
Makabe, Shiho;
Akihisa, Taro;
Sato, Masayo;
Kataoka, Hiroshi;
Mitobe, Michihiro;
Furukawa, Toru;
Tsuchiya, Ken;
Nitta, Kosaku

Publication type:

Article

Dystonic Tremor in Adult-onset DYT-KMT2B.

Published in:

Internal Medicine, 2022, v. 61, n. 15, p. 2357, doi. 10.2169/internalmedicine.8700-21

By:

Rui Shimazaki;
Jun Ikezawa;
Ryoichi Okiyama;
Kenko Azuma;
Hiroyuki Akagawa;
Kazushi Takahashi

Publication type:

Article

A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2.

Published in:

Endocrine Journal, 2023, v. 70, n. 6, p. 629, doi. 10.1507/endocrj.ej22-0541

By:

Satoshi Tanaka;
Hiroyuki Akagawa;
Kenkou Azuma;
Kaoru Watanabe;
Sayaka Higuchi;
Naoko Iwasaki

Publication type:

Article

The Alanine/Threonine Polymorphism of the Alpha-1-Antichymotrypsin (SERPINA3) Gene and Ruptured Intracranial Aneurysms in the Japanese Population.

Published in:

Cerebrovascular Diseases, 2007, v. 23, n. 1, p. 46, doi. 10.1159/000095758

By:

Krischek, Boris;
Akagawa, Hiroyuki;
Tajima, Atsushi;
Narita, Akira;
Kasuya, Hidetoshi;
Hori, Tomokatsu;
Inoue, Ituro

Publication type:

Article

A Japanese case of successful surgical resection of cerebral cavernous malformations with a CCM2 mutation.

Published in:

Neurology & Clinical Neuroscience, 2022, v. 10, n. 5, p. 255, doi. 10.1111/ncn3.12649

By:

Nomura, Emi;
Omote, Yoshio;
Takemoto, Mami;
Hishikawa, Nozomi;
Nakano, Yumiko;
Yunoki, Taijun;
Morihara, Ryuta;
Sasaki, Tatsuya;
Akagawa, Hiroyuki;
Abe, Koji;
Yamashita, Toru

Publication type:

Article

Impact of kidney function and kidney volume on intracranial aneurysms in patients with autosomal dominant polycystic kidney disease.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22884-9

By:

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

Publication type:

Article

Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms.

Published in:

PLoS ONE, 2022, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0265359

By:

Maegawa, Tatsuya;
Akagawa, Hiroyuki;
Onda, Hideaki;
Kasuya, Hidetoshi

Publication type:

Article