Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Niemann-Pick Disease, Type C and NPC2[original query] |
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NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening. Journal of neurology 2015 Sep . Synofzik Matthis, Harmuth Florian, Stampfer Miriam, Müller Vom Hagen Jennifer, Schöls Ludger, Bauer Pet |
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Mar . Wassif Christopher A, Cross Joanna L, Iben James, Sanchez-Pulido Luis, Cougnoux Antony, Platt Frances M, Ory Daniel S, Ponting Chris P, Bailey-Wilson Joan E, Biesecker Leslie G, Porter Forbes |
Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia. Orphanet journal of rare diseases 2018 6 13 (1): 91. Johnen Andreas, Pawlowski Matthias, Duning Thom |
Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. Biomedical reports 2018 6 9 (1): 65-73. Masserrat Abbas, Sharifpanah Fatemeh, Akbari Leila, Tonekaboni Seyed Hasan, Karimzadeh Parvaneh, Asharafi Mahmood Reza, Mazouei Safoura, Sauer Heinrich, Houshmand Masso |
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- Page last updated:May 06, 2024
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