Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: 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 |
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population. Frontiers in aging neuroscience 2021 12 13 749109. Zhao Yu-Wen, Pan Hong-Xu, Liu Zhenhua, Wang Yige, Zeng Qian, Fang Zheng-Huan, Luo Teng-Fei, Xu Kun, Wang Zheng, Zhou Xun, He Runcheng, Li Bin, Zhao Guihu, Xu Qian, Sun Qi-Ying, Yan Xin-Xiang, Tan Jie-Qiong, Li Jin-Chen, Guo Ji-Feng, Tang Bei-S |
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder. Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) 2022 7 . Privitera Flavia, Trusso Maria Allegra, Valentino Floriana, Doddato Gabriella, Fallerini Chiara, Brunelli Giulia, D'Aurizio Romina, Furini Simone, Goracci Arianna, Fagiolini Andrea, Mari Francesca, Renieri Alessandra, Ariani Frances |
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 |
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences 2023 11 24 (22): . Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espin |
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