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Public Health Genomics and Precision Health Knowledge Base (v5.8)

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Records 1-6

Query Trace: Niemann-Pick Disease, Type C and NPC1[orginal query]

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. Orphanet journal of rare diseases 2016 11 (1): 121. Koens L H, Kuiper A, Coenen M A, Elting J W J, de Vries J J, Engelen M, Koelman J H T M, van Spronsen F J, Spikman J M, de Koning T J, Tijssen M A Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. American journal of medical genetics. Part A 2012 Nov 158A (11): 2775-80. Fu Rao, Yanjanin Nicole M, Elrick Matthew J, Ware Christopher, Lieberman Andrew P, Porter Forbes Similar articles in PubMed
Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels. Arteriosclerosis, thrombosis, and vascular biology 2010 Aug 30 (8): 1614-20. Uronen Riikka-Liisa, Lundmark Per, Orho-Melander Marju, Jauhiainen Matti, Larsson Kristina, Siegbahn Agneta, Wallentin Lars, Zethelius Björn, Melander Olle, Syvänen Ann-Christine, Ikonen Eli Similar articles in PubMed
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics 2009 Jul 10 (3): 229-39. Fancello Tatiana, Dardis Andrea, Rosano Camillo, Tarugi Patrizia, Tappino Barbara, Zampieri Stefania, Pinotti Elisa, Corsolini Fabio, Fecarotta Simona, D'Amico Adele, Di Rocco Maja, Uziel Graziella, Calandra Sebastiano, Bembi Bruno, Filocamo Mirel Similar articles in PubMed

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