Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nadia Dehghani"'
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract In just over a decade, advances in genome-wide association studies (GWAS) have offered an approach to stratify individuals based on genetic risk for disease. Using recent Alzheimer's disease (AD) GWAS results as the base data, we determined
Externí odkaz:
https://doaj.org/article/76c9ae3280364d8fbaf0b2afda8e3792
Autor:
Nadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, Catarina Gouveia, Kalina Foster, Hasmet Hanagasi, Ebba Lohmann, Bedia Samanci, Hakan Gurvit, Basar Bilgic, Jose Bras, Rita Guerreiro
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-12 (2021)
Abstract Background Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and triplications of SNCA h
Externí odkaz:
https://doaj.org/article/3333ee35e57a4fb0954bf1090899f4e8
Autor:
Rita Guerreiro, Valentina Escott-Price, Dena G. Hernandez, Celia Kun-Rodrigues, Owen A. Ross, Tatiana Orme, Joao Luis Neto, Susana Carmona, Nadia Dehghani, John D. Eicher, Claire Shepherd, Laura Parkkinen, Lee Darwent, Michael G. Heckman, Sonja W. Scholz, Juan C. Troncoso, Olga Pletnikova, Ted Dawson, Liana Rosenthal, Olaf Ansorge, Jordi Clarimon, Alberto Lleo, Estrella Morenas-Rodriguez, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Monica Diez-Fairen, Miquel Aguilar, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda M. Halliday, John Hardy, John Q. Trojanowski, Dennis W. Dickson, Andrew Singleton, David J. Stone, Jose Bras
Publikováno v:
Neurobiology of Disease, Vol 127, Iss , Pp 492-501 (2019)
Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well established
Externí odkaz:
https://doaj.org/article/8a8a606f7f4c49d690647ef64ba97f82
Autor:
Mariana Santos, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, José Barros, José Brás, Jorge Sequeiros, Rita Guerreiro
Publikováno v:
Cells, Vol 11, Iss 6, p 981 (2022)
Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in
Externí odkaz:
https://doaj.org/article/534e77106e9a4d248a700ba7784ccebc
Autor:
Nadia Dehghani, Zeynep Tufekcioglu, Gamze Guven, Kaitlyn Westra, Hasmet Hanagasi, Ebba Lohmann, Bedia Samanci, Hakan Gurvit, Basar Bilgic, Rita Guerreiro, Murat Emre, Jose Bras
Valosin-containing protein(VCP) mutations are causative for multisystem proteinopathy, a disease characterized by variable phenotypes including inclusion body myopathy, Paget’s disease of bone, and frontotemporal dementia. More recent reports ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa2c29a1ffda23eb3eddea0abd2ef151
https://doi.org/10.1101/2023.02.13.23285395
https://doi.org/10.1101/2023.02.13.23285395
Autor:
Nadia Dehghani, Gamze Guven, Kaitlyn Westra, Eve Gardner, Kimberly Paquette, Elizabeth Gibbons, Hasmet Hanagasi, Ebba Lohmann, Bedia Samancı, Hakan Gurvit, Başar Bilgiç, Jose Bras, Rita Guerreiro
Publikováno v:
Alzheimer's & Dementia. 18
Autor:
Carla Cordivari, Nadia Dehghani, Kailash P. Bhatia, Anna Latorre, Rita Guerreiro, Bettina Balint, Susana Carmona, Jose Bras
Publikováno v:
European Journal of Neurology. 27:1471-1477
Background and purpose Despite recent advances in neurogenetics that have facilitated the identification of a number of dystonia genes, many familial dystonia syndromes remain without known cause. The aim of the study was to identify the cause of aut
Publikováno v:
Scientific reports. 12(1)
In just over a decade, advances in genome-wide association studies (GWAS) have offered an approach to stratify individuals based on genetic risk for disease. Using recent Alzheimer's disease (AD) GWAS results as the base data, we determined each indi
Autor:
Gamze Guven, Hasmet Hanagasi, Başar Bilgiç, Ebba Lohmann, Catarina Gouveia, Celia Kun-Rodrigues, Rita Guerreiro, Kalina Foster, Hakan Gurvit, Nadia Dehghani, Jose Bras, Bedia Samanci
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-12 (2021)
Human Genomics
Human genomics 15(1), 48 (2021). doi:10.1186/s40246-021-00346-z
Human Genomics
Human genomics 15(1), 48 (2021). doi:10.1186/s40246-021-00346-z
Background Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and triplications of SNCA have been
Publikováno v:
Alzheimer's & Dementia. 16