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Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia 葡萄牙遗传性小脑共济失调患者的分子特征 Santos, Mariana; Damasio, Joana; Carmona, Susana; Neto, Joao Luis; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; Barros, Jose; Bras, Jose; Sequeiros, Jorge; Guerreiro, Rita 分享 收藏
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Familial hemiplegic migraine due to L263V SCNIA mutation: Discordance for epilepsy between two kindreds from Douro Valley Barros, Jose; Ferreira, Augusto; Brandao, Ana F.; Lemos, Carolina; Correia, Fernando; Damasio, Joana; Tuna, Assuncao; Sequeiros, Jorge; Coutinho, Paula; Alonso, Isabel; Pereira-Monteiro, Jose 分享 收藏
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First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy 电压门控NaV1.1亚基基因SCN1A的第一个突变与家族性偏瘫性偏头痛和癫痫并存 Castro, M-J; Stam, A. H.; Lemos, C.; de Vries, B.; Vanmolkot, K. R. J.; Barros, J.; Terwindt, G. M.; Frants, R. R.; Sequeiros, J.; Ferrari, M. D.; Pereira-Monteiro, J. M.; van den Maagdenberg, A. M. J. M. 分享 收藏
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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin Moreira, MC; Barbot, C; Tachi, N; Kozuka, N; Uchida, E; Gibson, T; Mendonça, P; Costa, M; Barros, J; Yanagisawa, T; Watanabe, M; Ikeda, Y; Aoki, M; Nagata, T; Coutinho, P; Sequeiros, J; Koenig, M 分享 收藏
Homozygosity mapping of portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity Moreira, MD; Barbot, C; Tachi, N; Kozuka, N; Mendonça, P; Barros, J; Coutinho, P; Sequeiros, J; Koenig, M 分享 收藏
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles Silveira, I; Alonso, I; Guimaraes, L; Mendonça, P; Santos, C; Maciel, P; de Matos, JMF; Costa, M; Barbot, C; Tuna, A; Barros, J; Jardim, L; Coutinho, P; Sequeiros, J 分享 收藏