Genetic architecture of common non-Alzheimer’s disease dementias

por Guerreiro, Rita, Gibbons, Elizabeth, Tábuas-Pereira, Miguel, Kun-Rodrigues, Celia, Santo, Gustavo C., Bras, Jose
Publicado 2020

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

por Santos, Mariana, Damásio, Joana, Kun-Rodrigues, Célia, Barbot, Clara, Sequeiros, Jorge, Brás, José, Alonso, Isabel, Guerreiro, Rita
Publicado 2020

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

por Kun-Rodrigues, Celia, Ganos, Christos, Guerreiro, Rita, Schneider, Susanne A., Schulte, Claudia, Lesage, Suzanne, Darwent, Lee, Holmans, Peter, Singleton, Andrew, Bhatia, Kailash, Bras, Jose
Publicado 2015

Two Different High Throughput Sequencing Approaches Identify Thousands of De Novo Genomic Markers for the Genetically Depleted Bornean Elephant

por Sharma, Reeta, Goossens, Benoit, Kun-Rodrigues, Célia, Teixeira, Tatiana, Othman, Nurzhafarina, Boone, Jason Q., Jue, Nathaniel K., Obergfell, Craig, O'Neill, Rachel J., Chikhi, Lounès
Publicado 2012

Correction: Two Different High Throughput Sequencing Approaches Identify Thousands of De Novo Genomic Markers for the Genetically Depleted Bornean Elephant

por Sharma, Reeta, Goossens, Benoit, Kun-Rodrigues, Célia, Teixeira, Tatiana, Othman, Nurzhafarina, Boone, Jason Q., Jue, Nathaniel K., Obergfell, Craig, O'Neill, Rachel J., Chikhi, Lounès
Publicado 2013

A comprehensive analysis of copy number variation in a Turkish dementia cohort

por Dehghani, Nadia, Guven, Gamze, Kun-Rodrigues, Celia, Gouveia, Catarina, Foster, Kalina, Hanagasi, Hasmet, Lohmann, Ebba, Samanci, Bedia, Gurvit, Hakan, Bilgic, Basar, Bras, Jose, Guerreiro, Rita
Publicado 2021

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

por 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
Publicado 2020

PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice

por Messerschmidt, Clemens, Foddis, Marco, Blumenau, Sonja, Müller, Susanne, Bentele, Kajetan, Holtgrewe, Manuel, Kun-Rodrigues, Celia, Alonso, Isabel, do Carmo Macario, Maria, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Senatore, Assunta, Berchtold, Daniel, Winek, Katarzyna, Meisel, Andreas, Pavlovic, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Guven, Gamze, Bilgic, Basar, Bras, Jose, Guerreiro, Rita, Beule, Dieter, Dirnagl, Ulrich, Sassi, Celeste
Publicado 2021

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

por Orme, Tatiana, Hernandez, Dena, Ross, Owen A., Kun-Rodrigues, Celia, Darwent, Lee, Shepherd, Claire E., Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Morgan, Kevin, Troakes, Claire, Al-Sarraj, Safa, Lashley, Tammaryn, Holton, Janice, Compta, Yaroslau, Van Deerlin, Vivianna, Trojanowski, John Q., Serrano, Geidy E., Beach, Thomas G., Lesage, Suzanne, Galasko, Douglas, Masliah, Eliezer, Santana, Isabel, Pastor, Pau, 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, Stone, David J., Dickson, Dennis W., Hardy, John, Singleton, Andrew, Guerreiro, Rita, Bras, Jose
Publicado 2020