Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Disease and NPC2[original query] |
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| Association study of cholesterol-related genes in Alzheimer's disease. Neurogenetics 2007 Aug 8 (3): 179-88. Wollmer M Axel, Sleegers Kristel, Ingelsson Martin, Zekanowski Cezary, Brouwers Nathalie, Maruszak Aleksandra, Brunner Fabienne, Huynh Kim-Dung, Kilander Lena, Brundin Rose-Marie, Hedlund Marie, Giedraitis Vilmantas, Glaser Anna, Engelborghs Sebastiaan, De Deyn Peter P, Kapaki Elisabeth, Tsolaki Magdalini, Daniilidou Makrina, Molyva Dimitra, Paraskevas George P, Thal Dietmar R, Barcikowska Maria, Kuznicki Jacek, Lannfelt Lars, Van Broeckhoven Christine, Nitsch Roger M, Hock Christoph, Papassotiropoulos Andre |
| 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 |
| Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders. PloS one 2013 8 (12): e82879. Zech Michael, Nübling Georg, Castrop Florian, Jochim Angela, Schulte Eva C, Mollenhauer Brit, Lichtner Peter, Peters Annette, Gieger Christian, Marquardt Thorsten, Vanier Marie T, Latour Philippe, Klünemann Hans, Trenkwalder Claudia, Diehl-Schmid Janine, Perneczky Robert, Meitinger Thomas, Oexle Konrad, Haslinger Bernhard, Lorenzl Stefan, Winkelmann Julia |
| 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 |
| Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Molecular genetics and metabolism 2020 2 129 (4): 292-302. Sidhu Rohini, Kell Pamela, Dietzen Dennis J, Farhat Nicole Y, Do An Ngoc Dang, Porter Forbes D, Berry-Kravis Elizabeth, Vite Charles H, Reunert Janine, Marquardt Thorsten, Giugliani Roberto, Lourenço Charles M, Bodamer Olaf, Wang Raymond Y, Plummer Ellen, Schaffer Jean E, Ory Daniel S, Jiang Xunti |
| New variants in Spanish Niemann-Pick type c disease patients. Molecular biology reports 2020 2 47 (3): 2085-2095. López de Frutos Laura, Cebolla Jorge J, Aldámiz-Echevarría Luis, de la Vega Ángela, Stanescu Sinziana, Lahoz Carlos, Irún Pilar, Giraldo Pil |
| Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition. Journal of Alzheimer's disease : JAD 2021 Aug . Sorrentino Federica, Arighi Andrea, Serpente Maria, Arosio Beatrice, Arcaro Marina, Visconte Caterina, Rotondo Emanuela, Vimercati Roberto, Ferri Evelyn, Fumagalli Giorgio G, Pietroboni Anna M, Carandini Tiziana, Scarpini Elio, Fenoglio Chiara, Galimberti Danie |
| Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD). Journal of clinical medicine 2021 10 10 (20): . Dardis Andrea, Pavan Eleonora, Fabris Martina, Da Riol Rosalia Maria, Sechi Annalisa, Fiumara Agata, Santoro Lucia, Ormazabal Maximiliano, Milanic Romina, Zampieri Stefania, Biasizzo Jessica, Scarpa Mauriz |
| Variants in the Niemann-pick type C genes are not associated with Alzheimer's disease: a large case-control study in the Chinese population. Neurobiology of aging 2022 Aug 116 49-54. Xiao Xuewen, Liao Xinxin, Zhou Yafang, Weng Ling, Guo Lina, Zhou Lu, Wang Xin, Liu Xixi, Liu Hui, Bi Xiangyun, Xu Tianyan, Zhu Yuan, Yang Qijie, Zhang Sizhe, Hao Xiaoli, Liu Yingzi, Zhang Weiwei, Li Jinchen, Shen Lu, Jiao B |
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