Zobrazeno 1 - 10 of 955 pro vyhledávání: '"Hoffman, EP"'
1
Congenital titinopathy: comprehensive characterisation and pathogenic insights
Autor: Oates, EC, Jones, KJ, Donkervoort, S, Charlton, A, Brammah, S, Smith, JE, Ware, JS, Yau, KS, Swanson, LC, Whiffin, N, Peduto, AJ, Bournazozs, A, Waddell, LB, Farrar, MA, Sampaio, HA, Teoh, HL, Lamont, PJ, Mowat, D, Fitzsimons, RB, Corbett, AJ, Ryan, MM, O'Grady, GL, Sandaradura, SA, Ghaoui, R, Joshi, HB, Marshall, JL, Nolan, MA, Kaur, S, Punetha, J, Topf, A, Harris, E, Bakshi, M, Genetti, CA, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, JR, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, ME, Foley, AR, Bharucha-Goebel, D, Collins, J, Connolly, AM, Gilbreath, HR, Iannaccone, ST, Castro, D, Cummings, BB, Webster, RI, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H, Thomas, NH, Foulds, NC, Illingworth, MA, McLean, CA, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, ST, Kamsteeg, EJ, Hoffman, EP, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, KN, Clarke, NF, Lek, M, Beggs, AH, Bonnermann, CG, MacArthur, DG, Granzier, H, Davis, MR, Laing, NG
Objective: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods: Using massively parallel sequencing we identified 30 patients from 27 families with two
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::94520875be073f9f913cd6fda3ccf75f
http://hdl.handle.net/10044/1/60869
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2
Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study
Autor: Bello, L, Kesari, A, Gordish-Dressman, H, Cnaan, A, Morgenroth, LP, Punetha, J, Duong, T, Henricson, EK, Pegoraro, E, McDonald, CM, Hoffman, EP
Publikováno v: Bello, L; Kesari, A; Gordish-Dressman, H; Cnaan, A; Morgenroth, LP; Punetha, J; et al.(2015). Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study. Annals of Neurology, 77(4), 684-696. doi: 10.1002/ana.24370. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/3b81r134
© 2015 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association. Objective We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::9df28af6b31a956b9d0431d336bec3bb
http://www.escholarship.org/uc/item/3b81r134
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5
In utero Fetal Muscle Biopsy Alters Diagnosis and Carrier Risks in Duchenne and Becker Muscular Dystrophy
Autor: Evans, Mi, Krivchenia, El, Johnson, Mp, Quintero, Ra, King, M, Pegoraro, Elena, Hoffman, Ep, Dubrovsky, Al, Taratuto, Al, Sevlever, G, Schultz, M, Hoop, Rc
Publikováno v: Fetal Diagnosis and Therapy. 10:71-75
We have previously shown that Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. In Becker muscular dystrophy (BMD), there is a variable dystrophin staining pa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b36f868c783fc693da0949b85401935
https://doi.org/10.1159/000264206
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