Genome sequence analyses identify novel risk loci for multiple system atrophy

Autor: Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vilas, Saez-Atienzar, Sara, Reho, Paolo, Kaivola, Karri, Walton, Ronald L., Reynolds, Regina H., Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klaus, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G., Tison, François, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christos, Chelban, Viorica, Wu, Lesley, Goh, Yee Y., Parkkinen, Laura, Hu, Michele T., Kobylecki, Christopher, Saxon, Jennifer A., Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N., Kwei, Kimberly T., Lubbe, Steven J., Mao, Qinwen, Flanagan, Margaret E., Castellani, Rudolph J., Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M., Rosenthal, Liana S., Pantelyat, Alexander, Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E., Beach, Thomas G., Pastor, Pau, Morris, Huw R., Albani, Diego, Clarimon, Jordi, Wenning, Gregor K., Hardy, John A., Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A., De Jager, Philip L., Low, Philip A., Singer, Wolfgang, Cheshire, William P., Wszolek, Zbigniew K., Dickson, Dennis W., Traynor, Bryan J., Gibbs, J. Raphael, Dalgard, Clifton L., Ross, Owen A., Houlden, Henry, Scholz, Sonja W.

Publikováno v: In Neuron 3 July 2024 112(13):2142-2156

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Detection of early Alzheimer's disease in MCI patients by the combination of MMSE and an episodic memory test

Autor: Berciano José, González-Perez Soraya, Sánchez-Juan Pascual, Mateo Ignacio, Vazquez-Higuera José, Rodríguez-Rodríguez Eloy, Pozueta Ana, Combarros Onofre

Publikováno v: BMC Neurology, Vol 11, Iss 1, p 78 (2011)

Abstract Background Mild cognitive impairment (MCI) is a heterogeneous clinical entity that comprises the prodromal phase of Alzheimer's disease (Pr-AD). New biomarkers are useful in detecting Pr-AD, but they are not universally available. We aimed t

Externí odkaz: https://doaj.org/article/4231a5d030ea4b69a94ca1146cfb2624

DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort

Autor: Berciano José, Valdivieso Fernando, Sastre Isabel, Frank Ana, Pozueta Ana, Mateo Ignacio, Rodríguez-Rodríguez Eloy, Sánchez-Juan Pascual, Vázquez-Higuera José, Bullido María J, Combarros Onofre

Publikováno v: BMC Medical Genetics, Vol 10, Iss 1, p 129 (2009)

Abstract Background As dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examin

Externí odkaz: https://doaj.org/article/4e4ff2708af54e58b6c0ee0f6f042be2

No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease

Autor: Arias-Vasquez Alejandro, Giannattasio Claudia, Green Alison, Bishop Matthew T, Sánchez-Juan Pascual, Poleggi Anna, Knight Richard SG, van Duijn Cornelia M

Publikováno v: BMC Medical Genetics, Vol 8, Iss 1, p 77 (2007)

Abstract Background A polymorphism at codon 129 of the prion protein gene (PRNP) is the only well-known genetic risk factor for Creutzfeldt-Jakob disease (CJD). However, there is increasing evidence that other loci outside the PRNP open reading frame

Externí odkaz: https://doaj.org/article/a1a4441ec7874a3389eff0b63448c5f6