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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 2, 2023. (Total: 221654Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Neuronal Ceroid-Lipofuscinoses and NCL[original query]
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
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Orphanet journal of rare diseases 2013 8 .
Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.
Gene 2016 Aug .
Sleat David E, Gedvilaite Erika, Zhang Yeting, Lobel Peter, Xing Jinchu
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
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
BMC medical genetics 2020 5 21 (1): 100.
Li Wei, Fan Xin, Zhang Yue, Huang Limei, Jiang Tingting, Qin Zailong, Su Jiasun, Luo Jingrong, Yi Shang, Zhang Shujie, Shen Yipi
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