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Caveolin-3 in muscular dystrophyElizabeth M McNally Eloísa de Sá Moreira; David J Duggan; Carsten G Bönnemann; Michael P Lisanti; Hart G W Lidov; Mariz Vainzof; Maria Rita Passos-Bueno; Eric P Hoffman; Mayana Zatz; Louis M KunkelHuman Molecular Genetics v. 7, n. 5, p. 871-877, 1998Oxford 1998Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damageBarfield, Whitney L ; Uaesoontrachoon, Kitipong ; Wu, Chung-Sheih ; Lin, Stephen ; Chen, Yue ; Wang, Paul C ; Kanaan, Yasmine ; Bond, Vernon ; Hoffman, Eric PHuman molecular genetics, 2014-08, Vol.23 (15), p.4043-4050 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neuronsSterky, Fredrik H ; Hoffman, Alexander F ; Milenkovic, Dusanka ; Bao, Betty ; Paganelli, Arianna ; Edgar, Daniel ; Wibom, Rolf ; Lupica, Carl R ; Olson, Lars ; Larsson, Nils-GöranHuman molecular genetics, 2012-03, Vol.21 (5), p.1078-1089 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regenerationMelcon, Gisela ; Kozlov, Serguei ; Cutler, Dedra A. ; Sullivan, Terry ; Hernandez, Lidia ; Zhao, Po ; Mitchell, Stephanie ; Nader, Gustavo ; Bakay, Marina ; Rottman, Jeff N. ; Hoffman, Eric P. ; Stewart, Colin L.Human molecular genetics, 2006-02, Vol.15 (4), p.637-651 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Serum biomarkers associated with baseline clinical severity in young steroid-naïve Duchenne muscular dystrophy boysDang, Utkarsh J ; Ziemba, Michael ; Clemens, Paula R ; Hathout, Yetrib ; Conklin, Laurie S ; Hoffman, Eric PHuman molecular genetics, 2020-08, Vol.29 (15), p.2481-2495 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expressionSmith, Joel ; Read, Martin L ; Hoffman, Jon ; Brown, Rachel ; Bradshaw, Beth ; Campbell, Christopher ; Cole, Trevor ; Navas, Johanna Dieguez ; Eatock, Fiona ; Gundara, Justin S ; Lian, Eric ; Mcmullan, Dom ; Morgan, Neil V ; Mulligan, Lois ; Morrison, Patrick J ; Robledo, Mercedes ; Simpson, Michael A ; Smith, Vicki E ; Stewart, Sue ; Trembath, Richard C ; Sidhu, Stan ; Togneri, Fiona S ; Wake, Naomi C ; Wallis, Yvonne ; Watkinson, John C ; Maher, Eamonn R ; McCabe, Christopher J ; Woodward, Emma RHuman molecular genetics, 2016-05, Vol.25 (9), p.1836-1845 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the QuaternaryKILLIAN, J. Keith ; NOLAN, Catherine M ; WYLIE, Andrew A ; TAO LI ; VU, Thanh H ; HOFFMAN, Andrew R ; JIRTLE, Randy LHuman molecular genetics, 2001-08, Vol.10 (17), p.1721-1728 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Improved integrative framework combining association data with gene expression features to prioritize Crohn's disease genesNing, Kaida ; Gettler, Kyle ; Zhang, Wei ; Ng, Sok Meng ; Bowen, B Monica ; Hyams, Jeffrey ; Stephens, Michael C ; Kugathasan, Subra ; Denson, Lee A ; Schadt, Eric E ; Hoffman, Gabriel E ; Cho, Judy HHuman molecular genetics, 2015-07, Vol.24 (14), p.4147-4157 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficitsSchultheis, Patrick J ; Fleming, Sheila M ; Clippinger, Amy K ; Lewis, Jada ; Tsunemi, Taiji ; Giasson, Benoit ; Dickson, Dennis W ; Mazzulli, Joseph R ; Bardgett, Mark E ; Haik, Kristi L ; Ekhator, Osunde ; Chava, Anil Kumar ; Howard, John ; Gannon, Matt ; Hoffman, Elizabeth ; Chen, Yinhuai ; Prasad, Vikram ; Linn, Stephen C ; Tamargo, Rafael J ; Westbroek, Wendy ; Sidransky, Ellen ; Krainc, Dimitri ; Shull, Gary EHuman molecular genetics, 2013-05, Vol.22 (10), p.2067-2082 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited [alpha]-synuclein accumulation and age-dependent sensorimotor deficitsSchultheis, Patrick J ; Fleming, Sheila M ; Clippinger, Amy K ; Lewis, Jada ; Tsunemi, Taiji ; Giasson, Benoit ; Dickson, Dennis W ; Mazzulli, Joseph R ; Bardgett, Mark E ; Haik, Kristi L ; Ekhator, Osunde ; Chava, Anil Kumar ; Howard, John ; Gannon, Matt ; Hoffman, Elizabeth ; Chen, Yinhuai ; Prasad, Vikram ; Linn, Stephen C ; Tamargo, Rafael J ; Westbroek, Wendy ; Sidransky, Ellen ; Krainc, Dimitri ; Shull, Gary EHuman molecular genetics, 2013-05, Vol.22 (10), p.2067-2082 [Periódico revisado por pares]Texto completo disponível |