Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Celia Kun-Rodrigues"'
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:
Clemens Messerschmidt, Marco Foddis, Sonja Blumenau, Susanne Müller, Kajetan Bentele, Manuel Holtgrewe, Celia Kun-Rodrigues, Isabel Alonso, Maria do Carmo Macario, Ana Sofia Morgadinho, Ana Graça Velon, Gustavo Santo, Isabel Santana, Saana Mönkäre, Liina Kuuluvainen, Johanna Schleutker, Minna Pöyhönen, Liisa Myllykangas, Assunta Senatore, Daniel Berchtold, Katarzyna Winek, Andreas Meisel, Aleksandra Pavlovic, Vladimir Kostic, Valerija Dobricic, Ebba Lohmann, Hasmet Hanagasi, Gamze Guven, Basar Bilgic, Jose Bras, Rita Guerreiro, Dieter Beule, Ulrich Dirnagl, Celeste Sassi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these re
Externí odkaz:
https://doaj.org/article/fd269f7adb7a4eddb42c68dbb59da734
Autor:
Kiterie M. E. Faller, Alison E. Ridyard, Rodrigo Gutierrez‐Quintana, Angie Rupp, Celia Kun‐Rodrigues, Tatiana Orme, Karen L. Tylee, Heather J. Church, Rita Guerreiro, Jose Bras
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)
Abstract 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 sulfates in the cells and secondary multi
Externí odkaz:
https://doaj.org/article/a781ad876b6f449c84adc6e3ce5584c3
Autor:
Tatiana Orme, Dena Hernandez, Owen A. Ross, Celia Kun-Rodrigues, Lee Darwent, Claire E. Shepherd, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q. Trojanowski, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda Halliday, David J. Stone, Dennis W. Dickson, John Hardy, Andrew Singleton, Rita Guerreiro, Jose Bras
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-11 (2020)
Abstract Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are
Externí odkaz:
https://doaj.org/article/eb7da7eb422d4a428e7652ae48f842e3
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:
Rita Guerreiro, Elizabeth Gibbons, Miguel Tábuas-Pereira, Celia Kun-Rodrigues, Gustavo C. Santo, Jose Bras
Publikováno v:
Neurobiology of Disease, Vol 142, Iss , Pp 104946- (2020)
Frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) and vascular dementia (VaD) are the most common forms of dementia after Alzheimer's disease (AD). The heterogeneity of these disorders and/or the clinical overlap with other diseases hind
Externí odkaz:
https://doaj.org/article/523ee7231c9146e78314c7531b51fc99
Autor:
Rita Guerreiro, Kiterie M. E. Faller, Angie Rupp, Jose Bras, Alison Ridyard, Rodrigo Gutierrez-Quintana, Celia Kun-Rodrigues, Tatiana Orme, Heather J. Church, Karen Tylee
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)
Journal of Veterinary Internal Medicine
Journal of Veterinary Internal Medicine
Background:\ud \ud 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 sulfates in the cells and secondary multio
Autor:
Celia Kun-Rodrigues, Bettina Möller, Axel Rominger, Tatiana Bremova-Ertl, Susanne A. Schneider, Jose Bras, Marlene Moser, Clara Sztatecsny, Michael Strupp, Dirk A. Clevert, Dimitar Ninov, Stefanie Beck-Wödl, Matthias Brendel
Publikováno v:
Neurology. 94:e1702-e1715
ObjectiveTo characterize subclinical abnormalities in asymptomatic heterozygote NPC1 mutation carriers as markers of neurodegeneration.MethodsMotor function, cognition, mood, sleep, and smell function were assessed in 20 first-degree heterozygous rel
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
Autor:
Celia Kun-Rodrigues, Liina Kuuluvainen, Johanna Schleutker, Jose Bras, Minna Pöyhönen, Susana Carmona, Liisa Myllykangas, Rita Guerreiro, Saana Mönkäre
Publikováno v:
Eur J Hum Genet
Cerebral small vessel disease (CSVD) is the most important cause of vascular cognitive impairment (VCI). Most CSVD cases are sporadic but familial monogenic forms of the disorder have also been described. Despite the variants identified, many CSVD ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e7a31555aa0762bf2980941018cce34
http://hdl.handle.net/10138/333907
http://hdl.handle.net/10138/333907