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Refinado por: assunto: Mutation remover Base de dados/Biblioteca: ClinicalKey remover
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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study
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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

Ross, Owen A, Dr ; Soto-Ortolaza, Alexandra I, BSc ; Heckman, Michael G, MS ; Aasly, Jan O, Prof ; Abahuni, Nadine, MD ; Annesi, Grazia, Prof ; Bacon, Justin A, BSc ; Bardien, Soraya, PhD ; Bozi, Maria, MD ; Brice, Alexis, Prof ; Brighina, Laura, MD ; Van Broeckhoven, Christine, Prof ; Carr, Jonathan, Prof ; Chartier-Harlin, Marie-Christine, Prof ; Dardiotis, Efthimios, MD ; Dickson, Dennis W, Prof ; Diehl, Nancy N, BS ; Elbaz, Alexis, Prof ; Ferrarese, Carlo, Prof ; Ferraris, Alessandro, MD ; Fiske, Brian, PhD ; Gibson, J Mark, Prof ; Gibson, Rachel, PhD ; Hadjigeorgiou, Georgios M, MD ; Hattori, Nobutaka, Prof ; Ioannidis, John PA, Prof ; Jasinska-Myga, Barbara, MD ; Jeon, Beom S, Prof ; Kim, Yun Joong, Prof ; Klein, Christine, Prof ; Kruger, Rejko, MD ; Kyratzi, Elli, MD ; Lesage, Suzanne, PhD ; Lin, Chin-Hsien, MD ; Lynch, Timothy, Prof ; Maraganore, Demetrius M, Prof ; Mellick, George D, PhD ; Mutez, Eugénie, MD ; Nilsson, Christer, Prof ; Opala, Grzegorz, Prof ; Park, Sung Sup, Prof ; Puschmann, Andreas, MD ; Quattrone, Aldo, Prof ; Sharma, Manu, PhD ; Silburn, Peter A, Prof ; Sohn, Young Ho, Prof ; Stefanis, Leonidas, MD ; Tadic, Vera, MD ; Theuns, Jessie, PhD ; Tomiyama, Hiroyuki, MD ; Uitti, Ryan J, Prof ; Valente, Enza Maria, Prof ; van de Loo, Simone, PhD ; Vassilatis, Demetrios K, PhD ; Vilariño-Güell, Carles, PhD ; White, Linda R, Prof ; Wirdefeldt, Karin, MD ; Wszolek, Zbigniew K, Prof ; Wu, Ruey-Meei, Prof ; Farrer, Matthew J, Prof

Lancet neurology, 2011-10, Vol.10 (10), p.898-908 [Periódico revisado por pares]

England: Elsevier Ltd

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2
Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods
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Artigo
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Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods

Donkervoort, Sandra ; Chan, Sophelia HS ; Hotchkiss, Leslie ; Bradley, Nathaniel ; Nguyen, David ; Leach, Meganne E ; Mohassel, Payam ; Hu, Ying ; Thangarajh, Mathula ; Bharucha-Goebel, Diana ; Kan, Amanda ; Ho, Ronnie SL ; Reyes, Christine ; Nance, Jessica ; Moore, Steven A ; Foley, A. Reghan ; Bönnemann, Carsten G

Neuromuscular disorders : NMD, 2017-06, Vol.27 (6), p.531-536 [Periódico revisado por pares]

England: Elsevier B.V

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3
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy
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Artigo
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Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy

Lakdawala, Neal K ; Dellefave, Lisa ; Redwood, Charles S ; Sparks, Elizabeth ; Cirino, Allison L ; Depalma, Steve ; Colan, Steven D ; Funke, Birgit ; Zimmerman, Rebekah S ; Robinson, Paul ; Watkins, Hugh ; Seidman, Christine E ; Seidman, J G ; McNally, Elizabeth M ; Ho, Carolyn Y

Journal of the American College of Cardiology, 2010-01, Vol.55 (4), p.320-329 [Periódico revisado por pares]

United States: Elsevier Limited

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4
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector
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Artigo
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Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector

Gaspar, H Bobby ; Parsley, Kathryn L ; Howe, Steven ; King, Doug ; Gilmour, Kimberly C ; Sinclair, Joanna ; Brouns, Gaby ; Schmidt, Manfred ; Von Kalle, Christof ; Barington, Torben ; Jakobsen, Marianne A ; Christensen, Hans O ; Al Ghonaium, Abdulaziz ; White, Harry N ; Smith, John L ; Levinsky, Roland J ; Ali, Robin R ; Kinnon, Christine ; Thrasher, Adrian J

The Lancet (British edition), 2004-12, Vol.364 (9452), p.2181-2187 [Periódico revisado por pares]

London: Elsevier Ltd

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