المؤلفون: Guiliano, DB, Hall, N, Jones, SJM, Clark, LN, Corton, CH, Barrell, BG, Blaxter, ML^{Aff1, IDBMCgb2002310research0057_cor7}

المصدر: Genome Biology. 3(10)

المؤلفون: Bras, J, Guerreiro, R, Darwent, L, Parkkinen, L, Ansorge, O, Escott-Price, V, Hernandez, DG, Nalls, MA, Clark, LN, Honig, LS, Marder, K, Van Der Flier, WM, Lemstra, A, Scheltens, P, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Ortega-Cubero, S, Pastor, P, Ferman, TJ, Graff-Radford, NR, Ross, OA, Barber, I, Braae, A, Brown, K, Morgan, K, Maetzler, W, Berg, D, Troakes, C, Al-Sarraj, S, Lashley, T, Compta, Y, Revesz, T, Lees, A, Cairns, N, Halliday, GM, Mann, D, Pickering-Brown, S, Dickson, DW, Singleton, A, Hardy, J

المساهمون: Neurology, NCA - neurodegeneration

المصدر: Human Molecular Genetics, 23(23), 6139-6146. Oxford University Press
Human Molecular Genetics; 23(23), pp 6139-6146 (2014)
Human molecular genetics 23(23), 6139-6146 (2014). doi:10.1093/hmg/ddu334
Bras, J, Guerreiro, R, Darwent, L, Parkkinen, L, Ansorge, O, Escott-Price, V, Hernandez, D G, Nalls, M A, Clark, L N, Honig, L S, Marder, K, van der Flier, W M, Lemstra, A W, Scheltens, P, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Ortega-Cubero, S, Pastor, P, Ferman, T J, Graff-Radford, N R, Ross, O A, Barber, I, Braae, A, Brown, K, Morgan, K, Maetzler, W, Berg, D, Troakes, C, Al-Sarraj, S, Lashley, T, Compta, Y, Revesz, T, Lees, A, Cairns, N, Halliday, G M, Mann, D, Pickering-Brown, S, Dickson, D W, Singleton, A & Hardy, J 2014, ' Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies ', Human Molecular Genetics, vol. 23, no. 23, pp. 6139-6146 . https://doi.org/10.1093/hmg/ddu334
Human Molecular Genetics

مصطلحات موضوعية: Lewy Body Disease, Male, SCARB2 protein, human, genetics [Lysosome-Associated Membrane Glycoproteins], genetics [Receptors, Scavenger], etiology [Alzheimer Disease], genetics [Alzheimer Disease], Cohort Studies, pathology [Alzheimer Disease], Apolipoproteins E, genetics [Lewy Body Disease], Alzheimer Disease, genetics [Parkinson Disease], Risk Factors, ddc:570, mental disorders, Humans, SNCA protein, human, Genetic Association Studies, Receptors, Scavenger, pathology [Lewy Body Disease], Lysosome-Associated Membrane Glycoproteins, Parkinson Disease, Articles, pathology [Parkinson Disease], nervous system diseases, Genetic Loci, Case-Control Studies, genetics [alpha-Synuclein], alpha-Synuclein, genetics [Apolipoproteins E], etiology [Parkinson Disease], Female, Lysosomes, Medical Genetics, etiology [Lewy Body Disease], pathology [Lysosomes]

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::11d1591628116e495fde124e40374070
https://research.vumc.nl/en/publications/0c188d24-cc3f-4fa3-82a1-3795a5a9a294

المؤلفون: Wray, S, Self, M, Lewis, PA, Taanman, JW, Ryan, NS, Mahoney, CJ, Liang, Y, Devine, MJ, Sheerin, UM, Houlden, H, Morris, HR, Healy, D, Marti-Masso, JF, Preza, E, Barker, S, Sutherland, M, Corriveau, RA, D'Andrea, M, Schapira, AHV, Uitti, RJ, Guttman, M, Opala, G, Jasinska-Myga, B, Puschmann, A, Nilsson, C, Espay, AJ, Slawek, J, Gutmann, L, Boeve, BF, Boylan, K, Jon Stoessl, A, Ross, OA, Maragakis, NJ, Van Gerpen, J, Gerstenhaber, M, Gwinn, K, Dawson, TM, Isacson, O, Marder, KS, Clark, LN, Przedborski, SE, Finkbeiner, S, Rothstein, JD, Wszolek, ZK, Rossor, MN, Hardy, J, Gusella, JF, MacDonald, ME, Wheeler, VC, Ross, CA, Akimov, S, Arjomand, J, Thompson, LM, King, A, Hermanowicz, N, Winokur, S, Svendsen, CN, Mattis, V, Onorati, M, Cattaneo, E, Allen, ND, Kemp, PJ, Kim, KS, Przedborski, S, Feng, J, Lee, VMY, Trojanowski, JQ, James Surmeier, D, Henderson, CE, Maniatis, T, Eggan, K, Cudowicz, ME

المصدر: Wray, S; Self, M; Lewis, PA; Taanman, JW; Ryan, NS; Mahoney, CJ; et al.(2012). Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS ONE, 7(8). doi: 10.1371/journal.pone.0043099. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/0hr9m7bt

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______325::858a8a3006d4e18ea535d6f3ffd2375b
http://www.escholarship.org/uc/item/0hr9m7bt

المؤلفون: Marder, K, Tang, M-X, Mejia-Santana, H, Rosado, L, Louis, ED, Comella, C, Colcher, A, Siderowf, A, Jennings, D, Nance, M, Bressman, S, Scott, WK, Tanner, C, Mickel, S, Andrews, H, Waters, C, Fahn, S, Ross, B, Cote, L, Frucht, S, Ford, B, Alcalay, RN, Rezak, M, Novak, K, Friedman, JH, Pfeiffer, R, Marsh, L, Hiner, B, Greg, Neils, Verbitsky, M, Kisselev, S, Caccoppolo, E, Ottman, R, Clark, LN

مصطلحات موضوعية: Adult, Family Health, Male, Genotype, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Parkinson Disease, Hispanic or Latino, Middle Aged, Article, Cross-Sectional Studies, Gene Frequency, Risk Factors, Odds Ratio, Humans, Point Mutation, Female, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, Chromatography, High Pressure Liquid, Aged, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::38c540b824c3e84be316e3a322b0cc1b
https://europepmc.org/articles/PMC3329757/

المؤلفون: Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griff

المصدر: New England journal of medicine (Online) (2009).
info:cnr-pdr/source/autori:Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griff/titolo:Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease./doi:/rivista:New England journal of medicine (Online)/anno:2009/pagina_da:/pagina_a:/intervallo_pagine:/volume

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::6a89dd2c305ef1ae4da7c180d5411a7b
https://publications.cnr.it/doc/50023

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