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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Neuronal Ceroid-Lipofuscinoses and CLN8[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
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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