A comprehensive screening of copy number variability in dementia with Lewy bodies

Autor: Kun-Rodrigues, Celia, Orme, Tatiana, Carmona, Susana, Hernandez, Dena G., Ross, Owen A., Eicher, John D., Shepherd, Claire, Parkkinen, Laura, Darwent, Lee, Heckman, Michael G., Scholz, Sonja W., Troncoso, Juan C., Pletnikova, Olga, Dawson, Ted, Rosenthal, Liana, Ansorge, Olaf, Clarimon, Jordi, Lleo, Alberto, Morenas-Rodriguez, Estrella, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Barber, Imelda, Braae, Anne, Brown, Kristelle, Morgan, Kevin, Troakes, Claire, Al-Sarraj, Safa, Lashley, Tammaryn, Holton, Janice, Compta, Yaroslau, Van Deerlin, Vivianna, Serrano, Geidy E., Beach, Thomas G., Lesage, Suzanne, Galasko, Douglas, Masliah, Eliezer, Santana, Isabel, Pastor, Pau, Diez-Fairen, Monica, Aguilar, Miquel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Revesz, Tamas, Lees, Andrew, Boeve, Brad F., Petersen, Ronald C., Ferman, Tanis J., Escott-Price, Valentina, Graff-Radford, Neill, Cairns, Nigel J., Morris, John C., Pickering-Brown, Stuart, Mann, David, Halliday, Glenda M., Hardy, John, Trojanowski, John Q., Dickson, Dennis W., Singleton, Andrew, Stone, David J., Guerreiro, Rita, Bras, Jose

Publikováno v: In Neurobiology of Aging March 2019 75:223-223

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type 1

Autor: Faller, Kiterie, Ridyard, Alison, Gutierrez-Quintana, R, Rupp, Angie, Kun-Rodrigues, Celia, Orme, Tatiana, Tylee, Karen L., Church, Heather J., Guerreiro, Rita, Bras, Jose M.

Publikováno v: Faller, K, Ridyard, A, Gutierrez-Quintana, R, Rupp, A, Kun-Rodrigues, C, Orme, T, Tylee, K L, Church, H J, Guerreiro, R & Bras, J M 2020, ' A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type 1 ', Journal of Veterinary Internal Medicine . https://doi.org/10.1111/jvim.15868

Background: Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder caused by a deficiency of the enzyme α-L-iduronidase, leading to accumulation of undegraded dermatan and heparan sulphates in the cells and secondary multi-organ dysfun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::ff50168624af25cbbf3921fe0cbd50cb
https://hdl.handle.net/20.500.11820/ad2e2693-7932-49a7-805e-7e60ad45a230

Additional file 1 of Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Autor: Orme, Tatiana, Hernandez, Dena, Ross, Owen, Kun-Rodrigues, Celia, Darwent, Lee, Shepherd, Claire, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence, Marder, Karen, Afina Lemstra, Rogaeva, Ekaterina, George-Hyslop, Peter St., Londos, Elisabet, Zetterberg, Henrik, Morgan, Kevin, Troakes, Claire, Al-Sarraj, Safa, Tammaryn Lashley, Holton, Janice, Yaroslau Compta, Vivianna Deerlin, Trojanowski, John, Geidy Serrano, Beach, Thomas, Lesage, Suzanne, Galasko, Douglas, Masliah, Eliezer, Santana, Isabel, Pau Pastor, Tienari, Pentti, Myllykangas, Liisa, Oinas, Minna, Revesz, Tamas, Lees, Andrew, Boeve, Brad, Petersen, Ronald, Tanis Ferman, Escott-Price, Valentina, Graff-Radford, Neill, Cairns, Nigel, Morris, John, Pickering-Brown, Stuart, Mann, David, Halliday, Glenda, Stone, David, Dickson, Dennis, Hardy, John, Singleton, Andrew, Guerreiro, Rita, Bras, Jose

Additional file 1: Table S1. Sources of samples. Research groups, clinical teams and brain banks where the DLB samples included in this study were collected from.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0467bf37074b320e901679c5e6b4f219

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.

Autor: Faller, Kiterie M. E., Ridyard, Alison E., Gutierrez‐Quintana, Rodrigo, Rupp, Angie, Kun‐Rodrigues, Celia, Orme, Tatiana, Tylee, Karen L., Church, Heather J., Guerreiro, Rita, Bras, Jose

Publikováno v: Journal of Veterinary Internal Medicine; Sep2020, Vol. 34 Issue 5, p1813-1824, 12p

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