Works matching DE "NEURONAL ceroid-lipofuscinosis"

Results: 617
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    Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03747-8
    By:
    • Mole, Sara E.;
    • Gissen, Paul;
    • Nordstrom, Shannon;
    • Wait, Suzanne;
    • Allen, Louise;
    • Antonini, Mathilda;
    • Brownnutt, Liz;
    • Brown, Richard;
    • Cole, Barbara;
    • Gibbon, Frances;
    • Henderson, Robert H.;
    • Kenrick, Sarah;
    • Sisic, Zlatko;
    • Thompson, Bob;
    • Nightingale, Joanna
    Publication type:
    Article
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    Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1228
    By:
    • Kozina, Anastasiya A.;
    • Okuneva, Elena G.;
    • Baryshnikova, Natalia V.;
    • Kondakova, Olga B.;
    • Nikolaeva, Ekaterina A.;
    • Fedoniuk, Inessa D.;
    • Mikhailova, Svetlana V.;
    • Krasnenko, Anna Y.;
    • Stetsenko, Ivan F.;
    • Plotnikov, Nikolay A.;
    • Klimchuk, Olesia I.;
    • Popov, Yaroslav V.;
    • Surkova, Ekaterina I.;
    • Shatalov, Peter A.;
    • Rakitko, Alexander S.;
    • Ilinsky, Valery V.
    Publication type:
    Article
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    CLN8 disease caused by large genomic deletions.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 85, doi. 10.1002/mgg3.263
    By:
    • Beesley, Clare;
    • Guerreiro, Rita J.;
    • Bras, Jose T.;
    • Williams, Ruth E.;
    • Taratuto, Ana Lia;
    • Eltze, Christin;
    • Mole, Sara E.
    Publication type:
    Article
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    Ocular Manifestations of Neuronal Ceroid Lipofuscinoses.

    Published in:
    Seminars in Ophthalmology, 2021, v. 36, n. 7, p. 582, doi. 10.1080/08820538.2021.1936571
    By:
    • Singh, Rohan Bir;
    • Gupta, Prakash;
    • Kartik, Akash;
    • Farooqui, Naba;
    • Singhal, Sachi;
    • Shergill, Sukhman;
    • Singh, Kanwar Partap;
    • Agarwal, Aniruddha
    Publication type:
    Article
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    Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.

    Published in:
    Journal of Paediatrics & Child Health, 2021, v. 57, n. 4, p. 519, doi. 10.1111/jpc.15250
    By:
    • Lourenço, Charles M;
    • Pessoa, Andre;
    • Mendes, Carmen C;
    • Rivera‐Nieto, Carolina;
    • Vergara, Diane;
    • Troncoso, Mónica;
    • Gardner, Emily;
    • Mallorens, Francisca;
    • Tavera, Lina;
    • Lizcano, Luis A;
    • Atanacio, Nora;
    • Guelbert, Norberto;
    • Specola, Norma;
    • Mancilla, Nury;
    • Souza, Carolina F M;
    • Mole, Sara E
    Publication type:
    Article
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    Neuronal ceroid lipofuscinosis type 2: an Australian case series.

    Published in:
    2020
    By:
    • Johnson, Alexandra M;
    • Mandelstam, Simone;
    • Andrews, Ian;
    • Boysen, Katja;
    • Yaplito‐Lee, Joy;
    • Fietz, Michael;
    • Nagarajan, Lakshmi;
    • Rodriguez‐Casero, Victoria;
    • Ryan, Monique M;
    • Smith, Nicholas;
    • Scheffer, Ingrid E;
    • Ellaway, Carolyn;
    • Yaplito-Lee, Joy;
    • Rodriguez-Casero, Victoria
    Publication type:
    journal article
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    Corrigendum.

    Published in:
    2014
    Publication type:
    Correction Notice
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    Late Infantile Neuronal Ceroid Lipofuscinosis: Mutations in the CLN2 Gene and Clinical Course in Spanish Patients.

    Published in:
    Journal of Child Neurology, 2013, v. 28, n. 4, p. 470, doi. 10.1177/0883073812448459
    By:
    • Pérez-Poyato, María S.;
    • Marfa, Mercé Pineda;
    • Abizanda, Isidre Ferrer;
    • Rodriguez-Revenga, Laia;
    • Sánchez, Victoria Cusí;
    • González, María J Martínez;
    • Puñal, Jesús Eiris;
    • Pérez, Alfonso Verdú;
    • González, M Mar García;
    • Bermejo, Antonio Martínez;
    • Hernández, Elena Martín;
    • Rosell, M Josep Coll;
    • Gort, Laura;
    • Milá, Montserrat
    Publication type:
    Article
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