Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
Delanie B. Macedo Ana Paula Abreu; Ana Claudia S Reis; Luciana R Montenegro; Andrew Dauber; Daiane Beneduzzi; Priscilla Cukier; Leticia F. G Silveira; Milena G Teles; Rona S Carroll; Gil Guerra Junior; Guilherme Guaragna Filho; Zoran Gucev; Ivo J. P Arnhold; Margaret de Castro; Ayrton C Moreira; Carlos Eduardo Martinelli Jr.; Joel N Hirschhorn; Berenice B Mendonca; Vinicius N Brito; Sonir R Antonini; Ursula B Kaiser; Ana Claudia Latronico
Journal of Clinical Endocrinology and Metabolism Springfield v. 99, n. 6, p. E1097-E1103, 2014
Springfield 2014
Localização:
FM - Fac. Medicina
(BCSEP 023 2014 ) e outros locais(Acessar)
Ataxin-2 as potential disease modifier in C90RF72 expansion carriers
Marka van Blitterswijk Mullen Bianca; Michael Heckman; Lea T Grinberg; Matthew Backer; Mariely de Jesus Hernandez; Patricia Brown; Melissa Murray; Ging Yuek Hsiung; Heather Stewart; Anna Karydas; Elizabeth Finger; Andrew Kertesz; Eillen Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo Hatanpaa; Charles White III; Manuela Neumann; Michael Strong; Thomas Beach; Zbigniew Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucelli; Keith Josephs; Joseph Parisi; David Knopman; Ronald Peterson; Ian Mackenzie Seeley, william; Bruce Miller; Kevin Boylan; Neil Graff-Radford; Bradley Boeve; Dennis Dickson; Rosa Rademarkers
Neurobiology of aging New York v. 35, n. 3, p. 2421e13-2421e17, 2014
New York 2014
Localização:
FM - Fac. Medicina
(BCSEP 016 2014 )(Acessar)
Genetic modifiers in carriers of repeat expansions in the C90RF72 gene
Marka van Blitterswijk Bianca Mullen; Aleksandra Wojtas; Michael G Heckman; Nancy N Diedhi; Matthew C Baker; Mariely De Jesus-Hernandez; Patricia H Brown; Melissa E Murray; Ging-Yuek R Hsiung; Heather Stewart; Anna M Karydas; Elizabeth Finger; Andrew Kertesz; Eileen H Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo J Hatanpaa; Charles L White III; Manuela Neumann; Michael J Strong; Thomas G Beach; Zbigniew Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucekki; Keith Josephs; Joseph Parisi; David Knopman; Ronald Peterson; Ian Mackenzie; William Seeley; Lea Grinberg; Bruce Miller; Kevin Boylan; Neil Graff-Radford; Bradley Boeve; Dennis Dickson; Rosa Rademakers
Molecular Neurodegeneration London v. 9, p. 38, 2014
London 2014
Localização:
FM - Fac. Medicina
(BCSEP 574 2014 )(Acessar)
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
Marka van Blitterswijk Bianca Mullen; Alexandra M Nicholson; Kevin F Bieniek; Michael G Heckman; Matthew C Baker; Mariely DeJesus‑Hernandez; NiCole A Finch; Patricia H Brown; Melissa E Murray; Ging‑Yuek R Hsiung; Heather Stewart; Anna M Karydas; Elizabeth Finger; Andrew Kertesz; Eileen H Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo J Hatanpaa; Charles L White III; Michael J Strong; Thomas G Beach; Zbigniew K Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucelli; Keith A Josephs; Joseph E Parisi; David S Knopman; Ronald C Petersen; Ian R Mackenzie; William W Seeley; Lea T Grinberg; Bruce L Miller; Kevin B Boylan; Neill R Graff‑Radford; Bradley F Boeve; Dennis W Dickson; Rosa Rademakers
Acta Neuropathologica Berlin v. 127, n. 3, p. 397-406, 2014
Berlin 2014
Localização:
FM - Fac. Medicina
(BCSEP 090 2014 )(Acessar)