Works matching Pick's disease


Results: 2154
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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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    Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 679, doi. 10.3390/jcm9030679
    By:
    • Dardis, Andrea;
    • Zampieri, Stefania;
    • Gellera, Cinzia;
    • Carrozzo, Rosalba;
    • Cattarossi, Silvia;
    • Peruzzo, Paolo;
    • Dariol, Rosalia;
    • Sechi, Annalisa;
    • Deodato, Federica;
    • Caccia, Claudio;
    • Verrigni, Daniela;
    • Gasperini, Serena;
    • Fiumara, Agata;
    • Fecarotta, Simona;
    • Carecchio, Miryam;
    • Filosto, Massimiliano;
    • Santoro, Lucia;
    • Borroni, Barbara;
    • Bordugo, Andrea;
    • Brancati, Francesco
    Publication type:
    Article
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    Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

    Published in:
    2020
    By:
    • Mengel, Eugen;
    • Bembi, Bruno;
    • del Toro, Mireia;
    • Deodato, Federica;
    • Gautschi, Matthias;
    • Grunewald, Stephanie;
    • Grønborg, Sabine;
    • Héron, Bénédicte;
    • Maier, Esther M.;
    • Roubertie, Agathe;
    • Santra, Saikat;
    • Tylki-Szymanska, Anna;
    • Day, Simon;
    • Symonds, Tara;
    • Hudgens, Stacie;
    • Patterson, Marc C.;
    • Guldberg, Christina;
    • Ingemann, Linda;
    • Petersen, Nikolaj H. T.;
    • Kirkegaard, Thomas
    Publication type:
    journal article
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    Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030039
    By:
    • Kubaski, Francyne;
    • Burlina, Alberto;
    • Polo, Giulia;
    • Pereira, Danilo;
    • Herbst, Zackary M.;
    • Silva, Camilo;
    • Trapp, Franciele B.;
    • Michelin-Tirelli, Kristiane;
    • Lopes, Franciele F.;
    • Burin, Maira G.;
    • Brusius-Facchin, Ana Carolina;
    • Netto, Alice B. O.;
    • Faqueti, Larissa;
    • Iop, Gabrielle D.;
    • Poletto, Edina;
    • Giugliani, Roberto
    Publication type:
    Article
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