Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and MFSD8[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 |
| Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012 Aug 53 (8): 1387-98. Lemke Johannes R, Riesch Erik, Scheurenbrand Tim, Schubach Max, Wilhelm Christian, Steiner Isabelle, Hansen Jörg, Courage Carolina, Gallati Sabina, Bürki Sarah, Strozzi Susi, Simonetti Barbara Goeggel, Grunt Sebastian, Steinlin Maja, Alber Michael, Wolff Markus, Klopstock Thomas, Prott Eva C, Lorenz Rüdiger, Spaich Christiane, Rona Sabine, Lakshminarasimhan Maya, Kröll Judith, Dorn Thomas, Krämer Günter, Synofzik Matthis, Becker Felicitas, Weber Yvonne G, Lerche Holger, Böhm Detlef, Biskup Sask |
| Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PloS one 2018 12 13 (12): e0207958. Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet |
| Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China. The European journal of neuroscience 2020 Nov . Huang Ling, Liu Zhen, Yuan Yanchun, Shen Lu, Jiang Hong, Tang Beisha, Wang Junling, Lei Lifa |
| Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. BMC genomics 2021 Aug 22 (1): 590. Lo Faro Valeria, Ten Brink Jacoline B, Snieder Harold, Jansonius Nomdo M, Bergen Arthur |
| Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants. Neurobiology of aging 2022 Aug 116 1-11. Nagy Zsófia Flóra, Pál Margit, Salamon András, Kafui Esi Zodanu Gloria, Füstös Dalma, Klivényi Péter, Széll Már |
| Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases. Journal of the neurological sciences 2024 12 468 123338. Sangeeth Thuppanattumadam Ananthasubramanian, Hansashree Padmanabha, C M Ravindranadh, Raghavendra Kenchiah, Saloni Bhatia, Rashmi Santhoshkumar, Tumulu Seetam Kumar, Ramya Sukrutha, Gautham Arunachal, K Karthik, Madhu Nagappa, Saraswati Nashi, Rohan Mahale, L G Viswananthan, M Pooja, A R Nagaraj, J Ravi Shekar, T C Yasha, Anita Mahadevan, Sanjib Sin |
- Page last reviewed:Feb 1, 2024
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