Works by Goto, Yu-ichi

Results: 92

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Published in:

2019

By:

Inoue, Michio;
Uchino, Shumpei;
Iida, Aritoshi;
Noguchi, Satoru;
Hayashi, Shinichiro;
Takahashi, Tsutomu;
Fujii, Katsunori;
Komaki, Hirofumi;
Takeshita, Eri;
Nonaka, Ikuya;
Okada, Yukinori;
Yoshizawa, Takuya;
Van Lommel, Leentje;
Schuit, Frans;
Goto, Yu‐ichi;
Mimaki, Masakazu;
Nishino, Ichizo;
Goto, Yu-Ichi

Publication type:

journal article

Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.

Published in:

Clinical Endocrinology, 1996, v. 45, n. 5, p. 637, doi. 10.1046/j.1365-2265.1996.00856.x

By:

Isotani, Haruhiko;
Fukumoto, Yoshito;
Kawamura, Hiroshi;
Furukawa, Keizo;
Ohsawa, Nakaaki;
Goto, Yu-ichi;
Nishino, Ichizo;
Nonaka, Ikuya

Publication type:

Article

Progression in a Case of Kearne-Sayre Syndrome.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 11, p. 750

By:

Ishikawa, Yukitoshi;
Goto, Yu-ichi;
Ishikawa, Yuka;
Minami, Ryoji

Publication type:

Article

Severe Central Nervous System Involvement in a Patient With Congenital Fiber-Type Disproportion Myopathy.

Published in:

Journal of Child Neurology, 1996, v. 11, n. 1, p. 71, doi. 10.1177/088307389601100119

By:

Nakagawa, Eiji;
Ozawa, Matsuko;
Yamanouchi, Hideo;
Sugai, Kenji;
Goto, Yu-ichi;
Nonaka, Ikuya

Publication type:

Article

Haplotype structures ofEPHX1and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients.

Published in:

European Journal of Clinical Pharmacology, 2005, v. 61, n. 1, p. 25, doi. 10.1007/s00228-004-0878-1

By:

Nakajima, Yukiko;
Saito, Yoshiro;
Shiseki, Kisho;
Fukushima-Uesaka, Hiromi;
Hasegawa, Ryuichi;
Ozawa, Shogo;
Sugai, Kenji;
Katoh, Masaaki;
Saitoh, Osamu;
Ohnuma, Teiichi;
Kawai, Mitsuru;
Ohtsuki, Taisuke;
Suzuki, Chieko;
Minami, Narihiro;
Kimura, Hideo;
Goto, Yu-ichi;
Kamatani, Naoyuki;
Kaniwa, Nahoko;
Sawada, Jun-ichi

Publication type:

Article

Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.

Published in:

Neurological Sciences, 2011, v. 32, n. 5, p. 861, doi. 10.1007/s10072-011-0719-9

By:

Sunami, Yoko;
Sugaya, Keizo;
Chihara, Norio;
Goto, Yu-ichi;
Matsubara, Shiro

Publication type:

Article

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71

By:

Saitsu, Hirotomo;
Tohyama, Jun;
Walsh, Tom;
Kato, Mitsuhiro;
Kobayashi, Yu;
Lee, Ming;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Goto, Yu-ichi;
Nishino, Ichizo;
Ohtake, Akira;
King, Mary-Claire;
Matsumoto, Naomichi

Publication type:

Article

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 7, p. 405, doi. 10.1038/jhg.2014.41

By:

Negishi, Yutaka;
Hattori, Ayako;
Takeshita, Eri;
Sakai, Chika;
Ando, Naoki;
Ito, Tetsuya;
Goto, Yu-ichi;
Saitoh, Shinji

Publication type:

Article

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 73, doi. 10.1038/jhg.2011.131

By:

Honda, Shozo;
Satomura, Shigeko;
Hayashi, Shin;
Imoto, Issei;
Nakagawa, Eiji;
Goto, Yu-ichi;
Inazawa, Johji

Publication type:

Article

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 9, p. 590, doi. 10.1038/jhg.2010.74

By:

Honda, Shozo;
Hayashi, Shin;
Imoto, Issei;
Toyama, Jun;
Okazawa, Hitoshi;
Nakagawa, Eiji;
Goto, Yu-ichi;
Inazawa, Johji

Publication type:

Article

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 4, p. 244, doi. 10.1038/jhg.2010.14

By:

Honda, Shozo;
Orii, Koji O.;
Kobayashi, Junya;
Hayashi, Shin;
Imamura, Atsushi;
Imoto, Issei;
Nakagawa, Eiji;
Goto, Yu-ichi;
Inazawa, Johji

Publication type:

Article

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8

By:

Yamashita, Shintaro;
Nishino, Ichizo;
Nonaka, Ikuya;
Goto, Yu-ichi

Publication type:

Article

Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 6, p. 555, doi. 10.1007/s10038-006-0397-2

By:

Kin, Tesseki;
Sugie, Kazuma;
Hirano, Makito;
Goto, Yu-ichi;
Nishino, Ichizo;
Ueno, Satoshi

Publication type:

Article

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 2, p. 92, doi. 10.1007/s10038-003-0116-1

By:

Sudo, Akira;
Honzawa, Shiho;
Nonaka, Ikuya;
Goto, Yu-ichi

Publication type:

Article

Direct Evidence for Two Distinct Forms of the Flavoprotein Subunit of Human Mitochondrial Complex II (Succinate-Ubiquinone Reductase).

Published in:

Journal of Biochemistry, 2003, v. 134, n. 2, p. 191, doi. 10.1093/jb/mvg144

By:

Tomitsuka, Eriko;
Hirawake, Hiroko;
Goto, Yu-ichi;
Taniwaki, Masafumi;
Harada, Shigeharu;
Kita, Kiyoshi

Publication type:

Article

Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle.

Published in:

Journal of Biochemistry, 2003, v. 134, n. 1, p. 57, doi. 10.1093/jb/mvg113

By:

Yoshikawa, Ayumu;
Mitsuhashi, Hiroaki;
Sasagawa, Noboru;
Tsukahara, Toshifumi;
Hayashi, Yukiko;
Nishino, Ichizo;
Goto, Yu-ichi;
Ishiura, Shoichi

Publication type:

Article

Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics.

Published in:

Stem Cells, 2016, v. 34, n. 4, p. 801, doi. 10.1002/stem.2292

By:

Hatakeyama, Hideyuki;
Goto, Yu-ichi

Publication type:

Article

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 176, doi. 10.1038/82826

By:

Inoue, Kimiko;
Nakada, Kazuto;
Ogura, Atsuo;
Isobe, Kotoyo;
Goto, Yu-ichi;
Nonaka, Ikuya;
Hayashi, Jun-Ichi

Publication type:

Article

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report.

Published in:

2020

By:

Yokota, Yuki;
Hara, Makoto;
Akimoto, Takayoshi;
Mizoguchi, Tomotaka;
Goto, Yu-ichi;
Nishino, Ichizo;
Kamei, Satoshi;
Nakajima, Hideto

Publication type:

journal article

Genome-Wide Association Study Identifies HLA-DP as a Susceptibility Gene for Pediatric Asthma in Asian Populations.

Published in:

PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002170

By:

Noguchi, Emiko;
Sakamoto, Hiromi;
Hirota, Tomomitsu;
Ochiai, Kaori;
Imoto, Yoshimasa;
Sakashita, Masafumi;
Kurosaka, Fumitake;
Akasawa, Akira;
Yoshihara, Shigemi;
Kanno, Noriko;
Yamada, Yumi;
Shimojo, Naoki;
Kohno, Yoichi;
Suzuki, Yoichi;
Mi-Jin Kang;
Ji-Won Kwon;
Soo-Jong Hong;
Inoue, Ken;
Goto, Yu-ichi;
Yamashita, Fumio

Publication type:

Article

Plasma Metabolites Predict Severity of Depression and Suicidal Ideation in Psychiatric Patients-A Multicenter Pilot Analysis.

Published in:

PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0165267

By:

Setoyama, Daiki;
Kato, Takahiro A.;
Hashimoto, Ryota;
Kunugi, Hiroshi;
Hattori, Kotaro;
Hayakawa, Kohei;
Sato-Kasai, Mina;
Shimokawa, Norihiro;
Kaneko, Sachie;
Yoshida, Sumiko;
Goto, Yu-ichi;
Yasuda, Yuka;
Yamamori, Hidenaga;
Ohgidani, Masahiro;
Sagata, Noriaki;
Miura, Daisuke;
Kang, Dongchon;
Kanba, Shigenobu

Publication type:

Article

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01465-3

By:

Akahoshi, Keiko;
Nakagawa, Eiji;
Goto, Yu-ichi;
Inoue, Ken

Publication type:

Article

Methylation status of thep15andp16genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia.

Published in:

British Journal of Haematology, 2005, v. 128, n. 6, p. 805, doi. 10.1111/j.1365-2141.2005.05392.x

By:

Hasegawa, Daisuke;
Manabe, Atsushi;
Kubota, Takeo;
Kawasaki, Hirohide;
Hirose, Imiko;
Ohtsuka, Yoshitoshi;
Tsuruta, Toshihisa;
Ebihara, Yasuhiro;
Goto, Yu-ichi;
Zhao, Xiao Yan;
Sakashita, Kazuo;
Koike, Kenichi;
Isomura, Mariko;
Kojima, Seiji;
Hoshika, Akinori;
Tsuji, Kohichiro;
Nakahata, Tatsutoshi

Publication type:

Article

5-HT 1A Receptor Agonist Treatment Partially Ameliorates Rett Syndrome Phenotypes in mecp2 -Null Mice by Rescuing Impairment of Neuron Transmission and the CREB/BDNF Signaling Pathway.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14025, doi. 10.3390/ijms232214025

By:

Dai, Hongmei;
Kitami, Yoshikazu;
Goto, Yu-ichi;
Itoh, Masayuki

Publication type:

Article

Hypoalbuminemia in early onset dentatorubral−pallidoluysian atrophy due to leakage of albumin in multiple organs.

Published in:

Journal of Neurology, 2013, v. 260, n. 5, p. 1263, doi. 10.1007/s00415-012-6787-9

By:

Nagai, Shigehiro;
Saito, Yoshiaki;
Endo, Yukari;
Saito, Takashi;
Sugai, Kenji;
Ishiyama, Akihiko;
Komaki, Hirofumi;
Nakagawa, Eiji;
Sasaki, Masayuki;
Ito, Kimiteru;
Saito, Yuko;
Sukigara, Sayuri;
Ito, Masayuki;
Goto, Yu-ichi;
Ito, Shuichi;
Matsuoka, Kentaro

Publication type:

Article

Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.

Published in:

Journal of Neurology, 2012, v. 259, n. 11, p. 2329, doi. 10.1007/s00415-012-6493-7

By:

Maruyama, Shinsuke;
Saito, Yoshiaki;
Nakagawa, Eiji;
Saito, Takashi;
Komaki, Hirofumi;
Sugai, Kenji;
Sasaki, Masayuki;
Kumada, Satoko;
Saito, Yuko;
Tanaka, Hajime;
Minami, Narihiro;
Goto, Yu-ichi

Publication type:

Article

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 11, p. 1705, doi. 10.1093/hmg/ddn056

By:

Inoue, Ken;
Ohyama, Tomoko;
Sakuragi, Yosuke;
Yamamoto, Ryoko;
Inoue, Naoko A.;
Yu, Li-Hua;
Goto, Yu-ichi;
Wegner, Michael;
Lupski, James R.

Publication type:

Article

Translation of SOX10 3′ untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 24, p. 3037, doi. 10.1093/hmg/ddm262

By:

Inoue, Ken;
Ohyama, Tomoko;
Sakuragi, Yosuke;
Yamamoto, Ryoko;
Inoue, Naoko A.;
Li-Hua, Yu;
Goto, Yu-ichi;
Wegner, Michael;
Lupski, James R.

Publication type:

Article

Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells.

Published in:

PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0188821

By:

Nagata, Yuki;
Kiyono, Tohru;
Okamura, Kikuo;
Goto, Yu-ichi;
Matsuo, Masafumi;
Ikemoto-Uezumi, Madoka;
Hashimoto, Naohiro

Publication type:

Article

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Published in:

Annals of Neurology, 2002, v. 52, n. 1, p. 122, doi. 10.1002/ana.10235

By:

Takahashi, Maki;
Yamamoto, Ayaka;
Takano, Kyoko;
Sudo, Akira;
Wada, Takahito;
Goto, Yu-Ichi;
Nishino, Ichizo;
Saitoh, Shinji

Publication type:

Article

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

Published in:

Annals of Neurology, 2002, v. 51, n. 5, p. 645, doi. 10.1002/ana.10172

By:

Komaki, Hirofumi;
Fukazawa, Toshiyuki;
Houzen, Hideki;
Yoshida, Kazuto;
Nonaka, Ikuya;
Goto, Yu-Ichi

Publication type:

Article

Mitochondrial myopathy with progressive decrease in mitochondrial tRNA<sup>Leu(UUR)</sup> mutant genomes.

Published in:

Annals of Neurology, 1994, v. 35, n. 3, p. 370, doi. 10.1002/ana.410350322

By:

Kawakami, Yasuhiko;
Sakuta, Ryoichi;
Hashimoto, Kiyoshi;
Fujino, Osamu;
Fujita, Takehisa;
Hida, Masatoshi;
Horai, Satoshi;
Goto, Yu-ichi;
Nonaka, Ikuya

Publication type:

Article

Mitochondrial DNA mutation and Leigh's syndrome.

Published in:

1992

By:

Sakuta, Ryoichi;
Goto, Yu-Ichi;
Nonaka, Ikuya;
Horai, Satoshi;
Ogino, Tatsuya;
Yoshinaga, Harumi;
Ohtahara, Shunsuke;
Sakuta, R;
Goto, Y;
Horai, S;
Ogino, T;
Yoshinaga, H;
Ohtahara, S;
Nonaka, I

Publication type:

Case Study

A novel point mutation in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene in a family with mitochondrial myopathy.

Published in:

Annals of Neurology, 1992, v. 31, n. 6, p. 672, doi. 10.1002/ana.410310617

By:

Goto, Yu-ichi;
Tojo, Megumu;
Tohyama, Jun;
Horai, Satoshi;
Nonaka, Ikuya

Publication type:

Article

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

Published in:

Annals of Neurology, 1991, v. 29, n. 6, p. 601, doi. 10.1002/ana.410290606

By:

Hasegawa, Hitomi;
Matsuoka, Taro;
Goto, Yu-ichi;
Nonaka, Ikuya

Publication type:

Article

Reply to: Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype.

Published in:

2019

By:

Ozawa, Kenji;
Mochizuki, Kiyofumi;
Manabe, Yusuke;
Yoshikura, Nobuaki;
Shimohata, Takayoshi;
Nishino, Ichizo;
Goto, Yu-ichi

Publication type:

Letter

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.

Published in:

Documenta Ophthalmologica, 2019, v. 138, n. 2, p. 147, doi. 10.1007/s10633-019-09673-y

By:

Ozawa, Kenji;
Mochizuki, Kiyofumi;
Manabe, Yusuke;
Yoshikura, Nobuaki;
Shimohata, Takayoshi;
Nishino, Ichizo;
Goto, Yu-ichi

Publication type:

Article

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1005

By:

Tsujino, Seiichi;
Shanske, Sara;
Goto, Yu-ichi;
Nonaka, Ikuya;
DiMauro, Salvatore

Publication type:

Article

Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA.

Published in:

Nature Medicine, 2001, v. 7, n. 8, p. 934, doi. 10.1038/90976

By:

Nakada, Kazuto;
Inoue, Kimiko;
Ono, Tomoko;
Isobe, Kotoyo;
Ogura, Atsuo;
Goto, Yu-ichi;
Nonaka, Ikuya;
Hayashi, Jun-Ichi

Publication type:

Article

Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.

Published in:

2016

By:

Inoue, Takeshi;
Murakami, Nobuyuki;
Ayabe, Tadayuki;
Oto, Yuji;
Nishino, Ichizo;
Goto, Yu-Ichi;
Koga, Yasutoshi;
Sakuta, Ryoichi

Publication type:

journal article

Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7

By:

Ikezawa, Makoto;
Nishino, Ichizo;
Goto, Yu-ichi;
Miike, Teruhisa;
Nonaka, Ikuya

Publication type:

Article

Plasma Nervonic Acid Is a Potential Biomarker for Major Depressive Disorder: A Pilot Study.

Published in:

International Journal of Neuropsychopharmacology, 2018, v. 21, n. 3, p. 207, doi. 10.1093/ijnp/pyx089

By:

Kageyama, Yuki;
Kasahara, Takaoki;
Nakamura, Takemichi;
Hattori, Kotaro;
Deguchi, Yasuhiko;
Tani, Munehide;
Kuroda, Kenji;
Yoshida, Sumiko;
Goto, Yu-ichi;
Inoue, Koki;
Kato, Tadafumi

Publication type:

Article

Neocortical Layer Formation of Human Developing Brains and Lissencephalies: Consideration of Layer-Specific Marker Expression.

Published in:

Cerebral Cortex, 2011, v. 21, n. 3, p. 588, doi. 10.1093/cercor/bhq125

By:

Saito, Takashi;
Hanai, Sae;
Takashima, Sachio;
Nakagawa, Eiji;
Okazaki, Shin;
Inoue, Takeshi;
Miyata, Rie;
Hoshino, Kyoko;
Akashi, Takumi;
Sasaki, Masayuki;
Goto, Yu-ichi;
Hayashi, Masaharu;
Itoh, Masayuki

Publication type:

Article

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.

Published in:

2011

By:

Sakiyama, Yusuke;
Okamoto, Yuji;
Higuchi, Itsuro;
Inamori, Yukie;
Sangatsuda, Yoko;
Michizono, Kumiko;
Watanabe, Osamu;
Hatakeyama, Hideyuki;
Goto, Yu-ichi;
Arimura, Kimiyoshi;
Takashima, Hiroshi

Publication type:

Report

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).

Published in:

2008

By:

Okazaki, Shin;
Ohsawa, Maki;
Kuki, Ichiro;
Kawawaki, Hisashi;
Koriyama, Takeshi;
Shingou Ri;
Ichiba, Hiroyuki;
Eishu Hai;
Inoue, Takeshi;
Nakamura, Hiroaki;
Goto, Yu-ichi;
Tomiwa, Kiyotaka;
Yamano, Tsunekazu;
Kitamura, Kunio;
Itoh, Masayuki

Publication type:

Report

Apoptosis is suspended in muscle of mitochondrial encephalomyopathies.

Published in:

Acta Neuropathologica, 2002, v. 103, n. 6, p. 531, doi. 10.1007/s00401-001-0502-8

By:

Ikezoe, Koji;
Nakagawa, Masahiro;
Yan, Chuanzhu;
Kira, Jun-ichi;
Goto, Yu-ichi;
Nonaka, Ikuya

Publication type:

Article

Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.

Published in:

NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00394-z

By:

Nakamura, Wataru;
Hirata, Makoto;
Oda, Satoyo;
Chiba, Kenichi;
Okada, Ai;
Mateos, Raúl Nicolás;
Sugawa, Masahiro;
Iida, Naoko;
Ushiama, Mineko;
Tanabe, Noriko;
Sakamoto, Hiromi;
Sekine, Shigeki;
Hirasawa, Akira;
Kawai, Yosuke;
Tokunaga, Katsushi;
Ishibashi-Ueda, Hatsue;
Tomita, Tsutomu;
Noguchi, Michio;
Takahashi, Ayako;
Goto, Yu-ichi

Publication type:

Article

Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation.

Published in:

Neurology & Clinical Neuroscience, 2016, v. 4, n. 1, p. 34, doi. 10.1111/ncn3.12033

By:

Kim, Younhee;
Koide, Reiji;
Isozaki, Eiji;
Goto, Yu‐ichi

Publication type:

Article

Isolated mitochondrial stroke-like episodes in an elderly patient with the MT- ND3 gene mutation.

Published in:

Neurology & Clinical Neuroscience, 2015, v. 3, n. 4, p. 153, doi. 10.1111/ncn3.173

By:

Mukai, Masako;
Sugaya, Keizo;
Ozawa, Tadashi;
Goto, Yu‐ichi;
Yagishita, Akira;
Matsubara, Shiro;
Bokuda, Kota;
Miyakoshi, Akinori;
Nakano, Imaharu

Publication type:

Article

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y

By:

Imai, Takeshi;
Mitsuhashi, Satomi;
Isahaya, Kenji;
Shibata, Soichiro;
Kawai, Yosuke;
Omae, Yosuke;
Tokunaga, Katsushi;
Ishibashi-Ueda, Hatsue;
Tomita, Tsutomu;
Noguchi, Michio;
Takahashi, Ayako;
Goto, Yu-ichi;
Yoshida, Sumiko;
Hattori, Kotaro;
Matsumura, Ryo;
Iida, Aritoshi;
Maruoka, Yutaka;
Gatanaga, Hiroyuki;
Shimomura, Akihiko;
Sugiyama, Masaya

Publication type:

Article