Works matching Niemann-Pick disease and genetics

Results: 77
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    Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

    Published in:
    Iranian Journal of Child Neurology, 2019, v. 13, n. 2, p. 155
    By:
    • Hashemian, Somayyeh;
    • Eshraghi, Peyman;
    • Dilaver, Nafi;
    • Galehdari, Hamid;
    • Shalbafan, Bita;
    • Vakili, Rahim;
    • Ghaemi, Nosrat;
    • Ahangari, Najmeh;
    • Varaghchi, Jamileh Rezazadeh;
    • Zeighami, Jawaher;
    • Sedaghat, Alireza;
    • Aminzadeh, Majid;
    • Hamid, Mohammad;
    • Saberi, Alihossein;
    • Ashtari, Fereshteh;
    • Karimiani, Ehsan Ghayoor;
    • Shariati, Gholamreza
    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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    Neurofibrillary tangles in Niemann-Pick disease type C.

    Published in:
    Acta Neuropathologica, 1995, v. 89, n. 3, p. 227, doi. 10.1007/BF00309338
    By:
    • Suzuki, Kipuko;
    • Parker, Colette;
    • Pentchev, Peter;
    • Katz, David;
    • Ghetti, Bernardino;
    • D'Agostino, Anthony;
    • Carstea, Eugene
    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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    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

    Published in:
    2017
    By:
    • Desai, Radha;
    • Frazier, Ann E.;
    • Durigon, Romina;
    • Patel, Harshil;
    • Jones, Aleck W.;
    • Rosa, Ilaria Dalla;
    • Lake, Nicole J.;
    • Compton, Alison G.;
    • Mountford, Hayley S.;
    • Tucker, Elena J.;
    • Mitchell, Alice L. R.;
    • Jackson, Deborah;
    • Sesay, Abdul;
    • Di Re, Miriam;
    • van den Heuvel, Lambert P.;
    • Burke, Derek;
    • Francis, David;
    • Lunke, Sebastian;
    • McGillivray, George;
    • Mandelstam, Simone
    Publication type:
    journal article
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