Human Genome Epidemiology Literature Finder
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Records 1 - 5 (of 5 Records) |
| Query Trace: Disease and CLN8[original query] |
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| A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochemical and biophysical research communications 2005 1 327 (2): 541-7. Katz Martin L, Khan Shahnawaz, Awano Tomoyuki, Shahid S Adam, Siakotos Aristotle N, Johnson Gary |
| 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 |
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
American journal of hematology 2012 Apr 87 (4): 377-83. Zhang Clarence K, Stein Philip B, Liu Jun, Wang Zuoheng, Yang Ruhua, Cho Judy H, Gregersen Peter K, Aerts Johannes M F G, Zhao Hongyu, Pastores Gregory M, Mistry Pramod |
| Next generation sequencing exome data analysis aids in the discovery of SNP and INDEL patterns in Parkinson's disease. Genomics 2020 4 112 (5): 3722-3728. Odumpatta Rajasree, Mohanapriya Arumug |
| 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 |
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