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Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan
Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan
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Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan

Ando, M. ; Okamoto, Y. ; Yoshimura, A. ; Yuan, J.‐H. ; Hiramatsu, Y. ; Higuchi, Y. ; Hashiguchi, A. ; Mitsui, J. ; Ishiura, H. ; Fukumura, S. ; Matsushima, M. ; Ochi, N. ; Tsugawa, J. ; Morishita, S. ; Tsuji, S. ; Takashima, H.

European journal of neurology, 2017-10, Vol.24 (10), p.1274-1282 [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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2
Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor‐associated periodic syndrome
Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor‐associated periodic syndrome
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Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor‐associated periodic syndrome

Tsuji, S. ; Matsuzaki, H. ; Iseki, M. ; Nagasu, A. ; Hirano, H. ; Ishihara, K. ; Ueda, N. ; Honda, Y. ; Horiuchi, T. ; Nishikomori, R. ; Morita, Y. ; Mukai, T.

Clinical and experimental immunology, 2019-12, Vol.198 (3), p.416-429 [Periódico revisado por pares]

England: Oxford University Press

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3
Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity
Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity
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Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity

Nucifora, Frederick C. ; Sasaki, Masayuki ; Peters, Matthew F. ; Huang, Hui ; Cooper, Jillian K. ; Yamada, Mitsunori ; Takahashi, Hitoshi ; Tsuji, Shoji ; Troncoso, Juan ; Dawson, Valina L. ; Dawson, Ted M. ; Ross, Christopher A.

Science (American Association for the Advancement of Science), 2001-03, Vol.291 (5512), p.2423-2428 [Periódico revisado por pares]

Washington, DC: American Society for the Advancement of Science

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4
Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants
Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants
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Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants

Yoshimura, A. ; Yuan, J.‐H. ; Hashiguchi, A. ; Hiramatsu, Y. ; Ando, M. ; Higuchi, Y. ; Nakamura, T. ; Okamoto, Y. ; Matsumura, K. ; Hamano, T. ; Sawaura, N. ; Shimatani, Y. ; Kumada, S. ; Okumura, Y. ; Miyahara, J. ; Yamaguchi, Y. ; Kitamura, S. ; Haginoya, K. ; Mitsui, J. ; Ishiura, H. ; Tsuji, S. ; Takashima, H.

Clinical genetics, 2017-09, Vol.92 (3), p.274-280 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
SAT0589 Musculoskeletal manifestations occur predominantly in patients with older onset familial mediterranean fever
SAT0589 Musculoskeletal manifestations occur predominantly in patients with older onset familial mediterranean fever
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SAT0589 Musculoskeletal manifestations occur predominantly in patients with older onset familial mediterranean fever

Endo, Y. ; Koga, T. ; Umeda, M. ; Ishida, M. ; Fujita, Y. ; Tsuji, S. ; Takatani, A. ; Shimizu, T. ; Sumiyoshi, R. ; Igawa, T. ; Fukui, S. ; Nishino, A. ; Kawashiri, S.-Y. ; Iwamoto, N. ; Ichinose, K. ; Tamai, M. ; Nakamura, H. ; Origuchi, T. ; Agematsu, K. ; Yachie, A. ; Masumoto, J. ; Mitiga, K. ; Kawakami, A.

Annals of the rheumatic diseases, 2018-06, Vol.77 (Suppl 2), p.1148 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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6
NRF2 Regulates PINK1 Expression under Oxidative Stress Conditions
NRF2 Regulates PINK1 Expression under Oxidative Stress Conditions
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NRF2 Regulates PINK1 Expression under Oxidative Stress Conditions

Murata, Hitoshi ; Takamatsu, Hitoshi ; Liu, Sulai ; Kataoka, Ken ; Huh, Nam-Ho ; Sakaguchi, Masakiyo Tsuji, Yoshiaki

PloS one, 2015-11, Vol.10 (11), p.e0142438-e0142438 [Periódico revisado por pares]

United States: Public Library of Science

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7
Role of NF-E2 related factor 2 (Nrf2) on chemotherapy resistance in acute myeloid leukemia (AML) and the effect of pharmacological inhibition of Nrf2
Role of NF-E2 related factor 2 (Nrf2) on chemotherapy resistance in acute myeloid leukemia (AML) and the effect of pharmacological inhibition of Nrf2
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Role of NF-E2 related factor 2 (Nrf2) on chemotherapy resistance in acute myeloid leukemia (AML) and the effect of pharmacological inhibition of Nrf2

Karathedath, Sreeja ; Rajamani, Bharathi M ; Musheer Aalam, Syed Mohammed ; Abraham, Ajay ; Varatharajan, Savitha ; Krishnamurthy, Partha ; Mathews, Vikram ; Velayudhan, Shaji Ramachandran ; Balasubramanian, Poonkuzhali Tsuji, Yoshiaki

PloS one, 2017-05, Vol.12 (5), p.e0177227 [Periódico revisado por pares]

United States: Public Library of Science

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8
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Ichinose, Hiroshi ; Nomura, Yoshiko ; Ohye, Tamae ; Hori, Tada-aki ; Seki, Naohiko ; Tanaka, Hajime ; Fujita, Keisuke ; Tsuji, Shoji ; Endo, Kotaro ; Nagatsu, Toshiharu ; Takahashi, Ei-ichi ; Segawa, Masaya

Nature genetics, 1994-11, Vol.8 (3), p.236-242 [Periódico revisado por pares]

London: Nature Publishing Group

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9
Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study
Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study
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Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

Gaspar, C. ; Lopes-Cendes, I. ; Hayes, S. ; Goto, J. ; Arvidsson, K. ; Dias, A. ; Silveira, I. ; Maciel, P. ; Coutinho, P. ; Lima, M. ; Zhou, Y.-X. ; Soong, B.-W. ; Watanabe, M. ; Giunti, P. ; Stevanin, G. ; Riess, O. ; Sasaki, H. ; Hsieh, M. ; Nicholson, G.A. ; Brunt, E. ; Higgins, J.J. ; Lauritzen, M. ; Tranebjaerg, L. ; Volpini, V. ; Wood, N. ; Ranum, L. ; Tsuji, S. ; Brice, A. ; Sequeiros, J. ; Rouleau, G.A.

American journal of human genetics, 2001-02, Vol.68 (2), p.523-528 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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10
An adult form of Alexander disease : a novel mutation in glial fibrillary acidic protein
An adult form of Alexander disease : a novel mutation in glial fibrillary acidic protein
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An adult form of Alexander disease : a novel mutation in glial fibrillary acidic protein

OHNARI, Keiko ; YAMANO, Mitsuhiko ; UOZUMI, Takenori ; HASHIMOTO, Tomoko ; TSUJI, Sadatoshi ; NAKAGAWA, Masanori

Journal of neurology, 2007-10, Vol.254 (10), p.1390-1394 [Periódico revisado por pares]

Berlin: Springer

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