Zobrazeno 1 - 10
of 231
pro vyhledávání: '"María‐José Martí"'
Autor:
Viviana Torres, Jesica Pérez‐Montesino, Rubén Fernández‐Santiago, Manel Fernández, Ana Camara, Yaroslau Compta, María‐José Martí, Àlex Guerra Beltran, José Rios, Francesc Valldeoriola, Mario Ezquerra
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 8, Pp 2222-2229 (2024)
Abstract Impulse control disorders and their consequences display variability among individuals, indicating potential involvement of environmental and genetic factors. In this retrospective study, we analyzed a cohort of Parkinson's disease patients
Externí odkaz:
https://doaj.org/article/bf0de04c7cda432a871f493d306981d5
Autor:
Marta Soto, Manel Fernández, Paloma Bravo, Sara Lahoz, Alicia Garrido, Antonio Sánchez-Rodríguez, María Rivera-Sánchez, María Sierra, Paula Melón, Ana Roig-García, Anna Naito, Bradford Casey, Jordi Camps, Eduardo Tolosa, María-José Martí, Jon Infante, Mario Ezquerra, Rubén Fernández-Santiago
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-12 (2023)
Abstract The LRRK2 G2019S pathogenic mutation causes LRRK2-associated Parkinson’s disease (L2PD) with incomplete penetrance. LRRK2 non-manifesting carriers (L2NMC) are at PD high risk but predicting pheno-conversion is challenging given the lack of
Externí odkaz:
https://doaj.org/article/fc4ea8c201b04435b88fd67d9335edac
Autor:
Azulay, Jean-Philippe, Balaguer, Ernest, Bhatia, Perminder, Bodis-Wollner, Ivan, Brownstone, Paul, Boulloche, Nicolas, Calegan, Gerald J., II, Castelnovo, Giovanni, Chou, Kelvin L., Corvol, Jean-Christophe, Danisi, Fabio, Defebvre, Luc, Desojo, Lydia Vela, Durif, Franck, Ehret, Reinhard, Evans, Bradley K., Forchetti, Concetta, Friedman, Joseph H., Fogel, Wolfgang, Garniga, Matilde Calopa, Gil, Ramon A., Ginsberg, Paul L., Glasberg, Mark R., Griffith, Alida, Groves, Jeffrey W., Gudesblatt, Mark, Hermanowicz, Neal, Herrera, Maria A., Houeto, Jean-Luc, Hutchman, Robert M., Isaacson, Stuart H., Jagadeesan, Singar, Jog, Mandar, Keegan, Andrew, Klostermann, Fabian, Krystkowiak, Pierre, Kulisevsky Bojarsky, Jaime, Kumar, Rajeev, Lacey, Dennis, Lasker, Bruce, LaVaccare, John, Lavallee, Michelle M., Piudo, Maria Rosario Luquin, Mahler, Andreas, Domenech, Maria José Martí, Martinez Castrillo, Juan Carlos, Mate, Laszlo J., Mendis, Tilak, Metman, Leonard Verhagen, Muhlack, Siegfried Martin, Müller, Thomas, Park, Ariane, Patton, James, Peckham, Elizabeth, Grandas Pérez, Francisco, Rabin, Marcie, Rascol, Olivier, Reifschneider, Gerd, Remy, Philippe, Rivera, Pablo Mir, Schwarz, Johannes, Roullet-Solignac, Isabelle, Salazar, Gabriel, Sergay, Stephen M., Sherman, Scott, Shubin, Richard, Spikol, Lorraine, Steigerwald, Frank, Tönges, Lars, Truong, Daniel D., Ugarte, Antonio, Vivancos Matellano, Francisco, Witte, Arnold, Zesiewicz, Theresa, Zauber, Sarah Elizabeth, deVries, Tina, Jaros, Mark, Quartel, Adrian, Jacobs, David
Publikováno v:
In Parkinsonism and Related Disorders March 2022 96:65-73
Autor:
Alicia Garrido, Leticia Pérez‐Sisqués, Cristina Simonet, Genís Campoy‐Campos, Júlia Solana‐Balaguer, Núria Martín‐Flores, Manel Fernández, Marta Soto, Donina Obiang, Ana Cámara, Francesc Valldeoriola, Esteban Muñoz, Yaroslau Compta, Esther Pérez‐Navarro, Jordi Alberch, Eduardo Tolosa, María‐José Martí, Mario Ezquerra, Cristina Malagelada, Rubén Fernández‐Santiago
The purpose of this study was to investigate whether differential phosphorylation states of blood markers can identify patients with LRRK2 Parkinson's disease (PD). We assessed phospho(P)-Ser-935-LRRK2 and P-Ser-473-AKT levels in peripheral blood cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637d0bc22c457b3012c86ab96ebac67d
http://hdl.handle.net/2445/194378
http://hdl.handle.net/2445/194378
Autor:
Pilar Santacruz, Lluís Planellas, María-José Martí, Gerard Maya, Celia Painous, Joan Santamaria
Publikováno v:
Sleep Medicine. 84:389-396
Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurologic disorder included in the group of neurodegeneration with brain iron accumulation diseases (NBIA). Information regarding sleep in patients with PKAN is limited. Ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f890523be5cc2223b3168d16c94490c
https://doi.org/10.1016/j.sleep.2021.06.019
https://doi.org/10.1016/j.sleep.2021.06.019
Autor:
Estela Pérez‑Santamarina, Pedro García‑Ruiz, Dolores Martínez‑Rubio, Mario Ezquerra, Irene Pla‑Navarro, Jorge Puente, María José Martí, Francesc Palau, Janet Hoenicka
Publikováno v:
Scientific Reports. 12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c65a3dcd9baced90f3e901fefca6041e
https://doi.org/10.1038/s41598-022-17301-0
https://doi.org/10.1038/s41598-022-17301-0
Autor:
Esteban Muñoz, Oriol Grau, Nuria Caballol, Alexandra Pérez-Soriano, Celia Painous, Ellen Gelpi, Mar Guasp, Francesc Valldeoriola, Alicia Garrido, Ana Cámara, Guenter H. Höglinger, Gesine Respondek, Almudena Sánchez-Gómez, María José Martí, Yaroslau Compta, Laura Molina-Porcel
Publikováno v:
Parkinsonism & related disorders 84, 77-81 (2021). doi:10.1016/j.parkreldis.2021.01.015
Introduction The MDS-PSP criteria expand the phenotypic spectrum of PSP by adding to Richardson's syndrome (PSP-RS) other presentations such as PSP-parkinsonism (PSP–P), PSP-pure-gait-freezing (PSP-PGF), PSP-speech-language (PSP-SL), PSP-frontal (P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b5a24682f5e9680bfd5476bc8196fe2
https://doi.org/10.1016/j.parkreldis.2021.01.015
https://doi.org/10.1016/j.parkreldis.2021.01.015
Autor:
Gregor K. Wenning, Jose-Alberto Palma, Italo Biaggioni, Wolfgang Singer, Horacio Kaufmann, María José Martí, Klaus Seppi, Lucy Norcliffe-Kaufmann, Patricio Millar Vernetti, Florian Krismer, Iva Stankovic, Alessandra Fanciulli, Phillip A. Low, Han Joon Kim, Rebecca A. Betensky, Werner Poewe, Marcelo Merello, Maria Teresa Pellecchia, Miguel Perez
Publikováno v:
Clinical Autonomic Research
Purpose The unified multiple system atrophy (MSA) rating scale (UMSARS) was developed almost 20 years ago as a clinical rating scale to capture multiple aspects of the disease. With its widespread use, the shortcomings of the UMSARS as a clinical out
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57979a4a0bc43a1556a0f0143372a08
https://doi.org/10.1007/s10286-021-00782-w
https://doi.org/10.1007/s10286-021-00782-w
Autor:
Neus Rabaneda-Lombarte, José Manuel Vidal-Taboada, Tony Valente, Mario Ezquerra, Rubén Fernández-Santiago, María José Martí, Yaroslau Compta, Josep Saura, Carme Solà
Publikováno v:
npj Parkinson's Disease. 8
Neuroinflammation, in which activated microglia are involved, appears to contribute to the development of Parkinson’s disease (PD). However, the role of microglial activation and the mechanisms governing this process remain uncertain. We focused on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369ab3b819867334882496002d564028
https://doi.org/10.1038/s41531-022-00290-2
https://doi.org/10.1038/s41531-022-00290-2
Autor:
Rebecca L. Wallings, Laura P. Hughes, Hannah A. Staley, Zachary D. Simon, Nikolaus R. McFarland, Roy N. Alcalay, Alicia Garrido, María José Martí, Eduardo Tolosa Sarró, Nicolas Dzamko, Malú Gámez Tansey
Publikováno v:
Frontiers in cellular neuroscience. 16
Both leucine-rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GCase) are promising targets for the treatment of Parkinson’s disease (PD). Evidence suggests that both proteins are involved in biological pathways involving the lysosome. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f31af623f9e23c04551d813dff5851
https://pubmed.ncbi.nlm.nih.gov/35755775
https://pubmed.ncbi.nlm.nih.gov/35755775