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1
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Sanpei, K ; Takano, H ; Igarashi, S ; Sato, T ; Oyake, M ; Sasaki, H ; Wakisaka, A ; Tashiro, K ; Ishida, Y ; Ikeuchi, T ; Koide, R ; Saito, M ; Sato, A ; Tanaka, T ; Hanyu, S ; Takiyama, Y ; Nishizawa, M ; Shimizu, N ; Nomura, Y ; Segawa, M ; Iwabuchi, K ; Eguchi, I ; Tanaka, H ; Takahashi, H ; Tsuji, S

Nature genetics, 1996-11, Vol.14 (3), p.277-284 [Periódico revisado por pares]

London: Nature Publishing Group

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2
Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males
Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males
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Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males

NISHIGAKI, Yutaka ; YAMADA, Yoshiji ; TANAKA, Masashi ; FUKU, Noriyuki ; MATSUO, Hitoshi ; SEGAWA, Tomonori ; WATANABE, Sachiro ; KATO, Kimihiko ; YOKOI, Kiyoshi ; YAMAGUCHI, Sachiyo ; NOZAWA, Yoshinori

Human genetics, 2007-02, Vol.120 (6), p.827-836 [Periódico revisado por pares]

Heidelberg: Springer

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3
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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4
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1
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Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1

Ishihara, N ; Yamada, K ; Yamada, Y ; Miura, K ; Kato, J ; Kuwabara, N ; Hara, Y ; Kobayashi, Y ; Hoshino, K ; Nomura, Y ; Mimaki, M ; Ohya, K ; Matsushima, M ; Nitta, H ; Tanaka, K ; Segawa, M ; Ohki, T ; Ezoe, T ; Kumagai, T ; Onuma, A ; Kuroda, T ; Yoneda, M ; Yamanaka, T ; Saeki, M ; Segawa, M ; Saji, T ; Nagaya, M ; Wakamatsu, N

Journal of medical genetics, 2004-05, Vol.41 (5), p.387-393 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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