Результаты поиска - Nan, Haitian

A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature по Nan, Haitian, Shiraku, Hiroshi, Mizuno, Tomoko, Takiyama, Yoshihisa

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Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene по Nan, Haitian, Takaki, Ryusuke, Shimozono, Keisuke, Ichinose, Yuta, Koh, Kishin, Takiyama, Yoshihisa

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Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5 по Nan, Haitian, Shimozono, Keisuke, Ichinose, Yuta, Tsuchiya, Mai, Koh, Kishin, Hiraide, Masaki, Takiyama, Yoshihisa

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Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report по Hata, Takanori, Nagasaka, Takamura, Koh, Kishin, Tsuchiya, Mai, Ichinose, Yuta, Nan, Haitian, Shindo, Kazumasa, Takiyama, Yoshihisa

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MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations по Nan, Haitian, Hata, Takanori, Fukao, Toko, Fukao, Toshimichi, Chen, Wanjing, Kurita, Takafumi, Natori, Takahiro, Takiyama, Yoshihisa

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Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism по Nan, Haitian, Kim, Yeon-Jeong, Tsuchiya, Mai, Ishida, Aki, Haro, Hirotaka, Hiraide, Masaki, Ohtsuka, Toshihisa, Takiyama, Yoshihisa

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A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene по Nan, Haitian, Okamoto, Kensho, Gao, Lihua, Morishima, Yuto, Ichinose, Yuta, Koh, Kishin, Hashiyada, Masaki, Adachi, Noboru, Takiyama, Yoshihisa

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Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report по Nan, Haitian, Wu, Yunqing, Cui, Shilei, Sun, Houliang, Wang, Jiawei, Li, Ying, Meng, Lingchao, Nagasaka, Takamura, Wu, Liyong

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VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia по Koh, Kishin, Ishiura, Hiroyuki, Shimazaki, Haruo, Tsutsumiuchi, Michiko, Ichinose, Yuta, Nan, Haitian, Hamada, Shun, Ohtsuka, Toshihisa, Tsuji, Shoji, Takiyama, Yoshihisa

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Thalamic-insomnia phenotype in E200K Creutzfeldt–Jakob disease: A PET/MRI study по Ye, Hong, Chu, Min, Chen, Zhongyun, Xie, Kexin, Liu, Li, Nan, Haitian, Cui, Yue, Zhang, Jing, Wang, Lin, Li, Junjie, Wu, Liyong

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A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer’s Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor... по Nan, Haitian, Kim, Yeon-Jeong, Tsuchiya, Mai, Fukao, Toko, Hara, Noriko, Hagihara, Atsushi, Nishioka, Kenya, Hattori, Nobutaka, Hara, Norikazu, Ikeuchi, Takeshi, Ohtsuka, Toshihisa, Takiyama, Yoshihisa

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Reconfigured metabolism brain network in asymptomatic microtubule-associated protein tau mutation carriers: a graph theoretical analysis по Liu, Li, Chu, Min, Nie, Binbin, Liu, Lin, Xie, Kexin, Cui, Yue, Kong, Yu, Chen, Zhongyun, Nan, Haitian, Chen, Kewei, Rosa-Neto, Pedro, Wu, Liyong

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia по Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia по Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Olgac Dundar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

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