Works matching Niemann-Pick Disease


Results: 1449
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    Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 3, p. 642, doi. 10.1007/s00415-014-7619-x
    By:
    • Benussi, Alberto;
    • Alberici, Antonella;
    • Premi, Enrico;
    • Bertasi, Valeria;
    • Cotelli, Maria;
    • Turla, Marinella;
    • Dardis, Andrea;
    • Zampieri, Stefania;
    • Marchina, Eleonora;
    • Paghera, Barbara;
    • Gallivanone, Francesca;
    • Castiglioni, Isabella;
    • Padovani, Alessandro;
    • Borroni, Barbara
    Publication type:
    Article
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    Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease.

    Published in:
    Animals (2076-2615), 2023, v. 13, n. 11, p. 1744, doi. 10.3390/ani13111744
    By:
    • Rakib, Tofazzal Md;
    • Islam, Md Shafiqul;
    • Uddin, Mohammad Mejbah;
    • Rahman, Mohammad Mahbubur;
    • Yabuki, Akira;
    • Yamagami, Tetsushi;
    • Morozumi, Motoji;
    • Uchida, Kazuyuki;
    • Maki, Shinichiro;
    • Faruq, Abdullah Al;
    • Yamato, Osamu
    Publication type:
    Article
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    Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann–Pick disease type A.

    Published in:
    Journal of Neurochemistry, 2009, v. 109, n. 1, p. 105, doi. 10.1111/j.1471-4159.2009.05947.x
    By:
    • Buccinnà, Barbara;
    • Piccinini, Marco;
    • Prinetti, Alessandro;
    • Scandroglio, Federica;
    • Prioni, Simona;
    • Valsecchi, Manuela;
    • Votta, Barbara;
    • Grifoni, Silvia;
    • Lupino, Elisa;
    • Ramondetti, Cristina;
    • Schuchman, Edward H.;
    • Giordana, Maria Teresa;
    • Sonnino, Sandro;
    • Rinaudo, Maria Teresa
    Publication type:
    Article
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    Niemann-Pick disease.

    Published in:
    International Journal of Child Health & Human Development, 2020, v. 13, n. 3, p. 273
    By:
    • Saeedian, Jasmine;
    • Hekmatjah, Joshua
    Publication type:
    Article
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    Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann–Pick disease type C treatment.

    Published in:
    Clinical & Translational Medicine, 2023, v. 13, n. 8, p. 1, doi. 10.1002/ctm2.1350
    By:
    • Yamada, Yusei;
    • Fukaura‐Nishizawa, Madoka;
    • Nishiyama, Asami;
    • Ishii, Akira;
    • Kawata, Tatsuya;
    • Shirakawa, Aina;
    • Tanaka, Mayuko;
    • Kondo, Yuki;
    • Takeo, Toru;
    • Nakagata, Naomi;
    • Miwa, Toru;
    • Takeda, Hiroki;
    • Orita, Yorihisa;
    • Motoyama, Keiichi;
    • Higashi, Taishi;
    • Arima, Hidetoshi;
    • Seki, Takahiro;
    • Kurauchi, Yuki;
    • Katsuki, Hiroshi;
    • Higaki, Katsumi
    Publication type:
    Article
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    Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C.

    Published in:
    International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5018, doi. 10.3390/ijms20205018
    By:
    • Maekawa, Masamitsu;
    • Jinnoh, Isamu;
    • Matsumoto, Yotaro;
    • Narita, Aya;
    • Mashima, Ryuichi;
    • Takahashi, Hidenori;
    • Iwahori, Anna;
    • Saigusa, Daisuke;
    • Fujii, Kumiko;
    • Abe, Ai;
    • Higaki, Katsumi;
    • Yamauchi, Shosei;
    • Ozeki, Yuji;
    • Shimoda, Kazutaka;
    • Tomioka, Yoshihisa;
    • Okuyama, Torayuki;
    • Eto, Yoshikatsu;
    • Ohno, Kousaku;
    • T Clayton, Peter;
    • Yamaguchi, Hiroaki
    Publication type:
    Article
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    In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C.

    Published in:
    International Journal of Molecular Sciences, 2019, v. 20, n. 5, p. 1152, doi. 10.3390/ijms20051152
    By:
    • Yasmin, Nushrat;
    • Ishitsuka, Yoichi;
    • Fukaura, Madoka;
    • Yamada, Yusei;
    • Nakahara, Shuichi;
    • Ishii, Akira;
    • Kondo, Yuki;
    • Takeo, Toru;
    • Nakagata, Naomi;
    • Motoyama, Keiichi;
    • Higashi, Taishi;
    • Okada, Yasuyo;
    • Nishikawa, Junichi;
    • Ichikawa, Atsushi;
    • Iohara, Daisuke;
    • Hirayama, Fumitoshi;
    • Higaki, Katsumi;
    • Ohno, Kousaku;
    • Matsuo, Muneaki;
    • Irie, Tetsumi
    Publication type:
    Article
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    Four Novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD).

    Published in:
    International Journal of Molecular Sciences, 2015, v. 16, n. 4, p. 6668, doi. 10.3390/ijms16046668
    By:
    • Dehghan Manshadi, Masoumeh;
    • Kamalidehghan, Behnam;
    • Keshavarzi, Fatemeh;
    • Aryani, Omid;
    • Dadgar, Sepideh;
    • Arastehkani, Ahoora;
    • Tondar, Mahdi;
    • Ahmadipour, Fatemeh;
    • Meng, Goh Yong;
    • Houshmand, Massoud
    Publication type:
    Article
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