Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Neuronal Ceroid-Lipofuscinoses and CLN6[original query] |
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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain : a journal of neurology 2009 Mar 132 (Pt 3): 810-9. Kousi Maria, Siintola Eija, Dvorakova Lenka, Vlaskova Hana, Turnbull Julie, Topcu Meral, Yuksel Deniz, Gokben Sarenur, Minassian Berge A, Elleder Milan, Mole Sara E, Lehesjoki Anna-Eli |
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. Molecular genetics & genomic medicine 2020 5 8 (7): e1228. 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 |
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center. Orphanet journal of rare diseases 2022 5 17 (1): 179. Rus Corina-Marcela, Weissensteiner Thomas, Pereira Catarina, Susnea Iuliana, Danquah Bright D, Morales Torres Galina, Rocha Maria Eugenia, Cozma Claudia, Saravanakumar Deepa, Mannepalli Sumanth, Kandaswamy Krishna K, Di Bucchianico Sebastiano, Zimmermann Ralf, Rolfs Arndt, Bauer Peter, Beetz Christi |
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