Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu Wai Man P. G Griffiths; G. S Gorman; C. M Lourenço; A. FWright; M. Auer Grumbach; A Toscano; O Musumeci; M. L Valentino; L Caporali; C Lamperti; C. M Tallaksen; P Duffey; J Miller; R. G Whittaker; M. R Baker; M. J Jackson; M. P Clarke; B Dhillon; B Czermin; J. D Stewart; G Hudson; P Reynier; D Bonneaus; Wilson Marques Júnior; G Lenaers; R McFarland; R. W Taylor; D. M Turnbull; M Votruba; M Zeviani; V Carelli; L. A Bindoff; R Horvath; P. Amati Bonneau; P. F Chinnery
Brain Oxford v. 133, n. 3, p. 771-786, 2010
Oxford 2010
Available at
FMRP - Fac. Medicina de Ribeirão Preto
(pcd 2166325 estantes deslizantes )(GetIt)
Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu Wai Man P. G Griffiths; G. S Gorman; C. M Lourenço; A. FWright; M. Auer Grumbach; A Toscano; O Musumeci; M. L Valentino; L Caporali; C Lamperti; C. M Tallaksen; P Duffey; J Miller; R. G Whittaker; M. R Baker; M. J Jackson; M. P Clarke; B Dhillon; B Czermin; J. D Stewart; G Hudson; P Reynier; D Bonneaus; Wilson Marques Júnior; G Lenaers; R McFarland; R. W Taylor; D. M Turnbull; M Votruba; M Zeviani; V Carelli; L. A Bindoff; R Horvath; P. Amati Bonneau; P. F Chinnery
Brain Oxford v. 133, n. 3, p. 771-786, 2010
Oxford 2010
Available at
FMRP - Fac. Medicina de Ribeirão Preto
(pcd 2166325 estantes deslizantes )(GetIt)
Ablepharon macrostomia syndrome a distinct genetic entity clinically related to the group of FRAS–FREM complex disorders
Denny Schanze Magdalena Harakalova; Cathy A Stevens; Francesco Brancati; Bruno Dallapiccola; Peter Farndon; Victor Evangelista de Faria Ferraz; Donna M. McDonald McGinn; Elaine H Zackai; Michael Wright; Stef van Lieshout; Maartje J Vogel; Mieke M. van Haelst; Martin Zenker
American Journal of Medical Genetics Hoboken v. 161A, n. 12, p. 3012\20133017, 2013
Hoboken 2013
Available at
FMRP - Fac. Medicina de Ribeirão Preto
(pcd 2484185 Estantes Deslizantes )(GetIt)