Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Niemann-Pick Disease, Type B and NPC1[original query] |
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| Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population. Journal of human genetics 2009 Dec 54 (12): 727-31. Hotta Kikuko, Nakamura Michihiro, Nakamura Takahiro, Matsuo Tomoaki, Nakata Yoshio, Kamohara Seika, Miyatake Nobuyuki, Kotani Kazuaki, Komatsu Ryoya, Itoh Naoto, Mineo Ikuo, Wada Jun, Masuzaki Hiroaki, Yoneda Masato, Nakajima Atsushi, Funahashi Tohru, Miyazaki Shigeru, Tokunaga Katsuto, Kawamoto Manabu, Ueno Takato, Hamaguchi Kazuyuki, Tanaka Kiyoji, Yamada Kentaro, Hanafusa Toshiaki, Oikawa Shinichi, Yoshimatsu Hironobu, Nakao Kazuwa, Sakata Toshiie, Matsuzawa Yuji, Kamatani Naoyuki, Nakamura Yusu |
| 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 |
| 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 |
| 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 |
| Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. Molecular neurobiology 2019 3 56 (9): 6426-6435. Polese-Bonatto Márcia, Bock Hugo, Farias Ana Carolina S, Mergener Rafaella, Matte Maria Cristina, Gil Mirela S, Nepomuceno Felipe, Souza Fernanda T S, Gus Rejane, Giugliani Roberto, Saraiva-Pereira Maria Lui |
| Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease. Neurobiology of aging 2020 Apr . Ouled Amar Bencheikh Bouchra, Senkevich Konstantin, Rudakou Uladzislau, Yu Eric, Mufti Kheireddin, Ruskey Jennifer A, Asayesh Farnaz, Laurent Sandra B, Spiegelman Dan, Fahn Stanley, Waters Cheryl, Monchi Oury, Dauvilliers Yves, Espay Alberto J, Dupré Nicolas, Greenbaum Lior, Hassin-Baer Sharon, Rouleau Guy A, Alcalay Roy N, Fon Edward A, Gan-Or Z |
| Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1. Scientific reports 2020 11 10 (1): 18787. Chiorean Andreea, Garver William S, Meyre Dav |
| NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts. Neurobiology of aging 2023 4 . Somerville Emma N, Krohn Lynne, Yu Eric, Rudakou Uladzislau, Senkevich Konstantin, Ruskey Jennifer A, Asayesh Farnaz, Ahmad Jamil, Spiegelman Dan, Dauvilliers Yves, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Ibrahim Abubaker, Stefani Ambra, Högl Birgit, Gigli Gian Luigi, Valente Mariarosaria, Janes Francesco, Bernardini Andrea, Dusek Petr, Sonka Karel, Kemlink David, Plazzi Giuseppe, Antelmi Elena, Biscarini Francesco, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Doring Friederike, Figorilli Michela, Puligheddu Monica, De Cock Valerie Cochen, Oertel Wolfgang, Janzen Annette, Ferini-Strambi Luigi, Heibreder Anna, Monaca Christelle Charley, Abril Beatriz, Dijkstra Femke, Viaene Mineke, Boeve Bradley F, Postuma Ronald B, Rouleau Guy A, Gan-Or Z |
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