Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Jordi Gascon"'
Publikováno v:
Case Reports in Neurological Medicine, Vol 2015 (2015)
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported. Undiagnosed and untreated patients are at the risk of death or suffering from irreversi
Externí odkaz:
https://doaj.org/article/625dc61e6c054bffa80e0b24493f0087
Autor:
Carol Dobson-Stone, Marianne Hallupp, Clement T Loy, Elizabeth M Thompson, Eric Haan, Carolyn M Sue, Peter K Panegyres, Cristina Razquin, Manuel Seijo-Martínez, Ramon Rene, Jordi Gascon, Jaume Campdelacreu, Birgit Schmoll, Alexander E Volk, William S Brooks, Peter R Schofield, Pau Pastor, John B J Kwok
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e56899 (2013)
A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the freq
Externí odkaz:
https://doaj.org/article/34d9fa3edd3248f2999405cb91c6ba3c
Autor:
Hastings, Caroline A., Goker-Alpan, Ozlem, Pena, Loren, Bayarri, Jordi Gascon, Martin-Hernandez, Elena, Sharma, Reena, Chacham, Orna Staretz, Spiegel, Ronen, Mengel, Eugen, Walterfang, Mark, Peters, Heidi, Fung, Victor S., Kiec-Wilk, Beata, Smith, Nicholas, Giugliani, Roberto, Guelbert, Norberto, Ezgu, Fatih, Ucar, Sema Kalkan, Murray, Bryan J., Brecht, Andreas F., Mejia, Joseph
Publikováno v:
In Molecular Genetics and Metabolism February 2024 141(2)
Autor:
Rebecca R Valentino, William J Scotton, Shanu F Roemer, Tammaryn Lashley, Michael G Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L Walton, Matthew C Baker, Hannah L Macpherson, Raquel Real, Alexandra I Soto-Beasley, Kin Mok, Tamas Revesz, Thomas T Warner, Zane Jaunmuktane, Bradley F Boeve, Elizabeth A Christopher, Michael DeTure, Ranjan Duara, Neill R Graff-Radford, Keith A Josephs, David S Knopman, Shunsuke Koga, Melissa E Murray, Kelly E Lyons, Rajesh Pahwa, Joseph E Parisi, Ronald C Petersen, Jennifer Whitwell, Lea T Grinberg, Bruce Miller, Athena Schlereth, William W Seeley, Salvatore Spina, Murray Grossman, David J Irwin, Edward B Lee, EunRan Suh, John Q Trojanowski, Vivianna M Van Deerlin, David A Wolk, Theresa R Connors, Patrick M Dooley, Matthew P Frosch, Derek H Oakley, Iban Aldecoa, Mircea Balasa, Ellen Gelpi, Sergi Borrego-Écija, Rosa Maria de Eugenio Huélamo, Jordi Gascon-Bayarri, Raquel Sánchez-Valle, Pilar Sanz-Cartagena, Gerard Piñol-Ripoll, Laura Molina-Porcel, Eileen H Bigio, Margaret E Flanagan, Tamar Gefen, Emily J Rogalski, Sandra Weintraub, Javier Redding-Ochoa, Koping Chang, Juan C Troncoso, Stefan Prokop, Kathy L Newell, Bernardino Ghetti, Matthew Jones, Anna Richardson, Andrew C Robinson, Federico Roncaroli, Julie Snowden, Kieren Allinson, Oliver Green, James B Rowe, Poonam Singh, Thomas G Beach, Geidy E Serrano, Xena E Flowers, James E Goldman, Allison C Heaps, Sandra P Leskinen, Andrew F Teich, Sandra E Black, Julia L Keith, Mario Masellis, Istvan Bodi, Andrew King, Safa-Al Sarraj, Claire Troakes, Glenda M Halliday, John R Hodges, Jillian J Kril, John B Kwok, Olivier Piguet, Marla Gearing, Thomas Arzberger, Sigrun Roeber, Johannes Attems, Christopher M Morris, Alan J Thomas, Bret M. Evers, Charles L White, Naguib Mechawar, Anne A Sieben, Patrick P Cras, Bart B De Vil, Peter Paul P.P. De Deyn, Charles Duyckaerts, Isabelle Le Ber, Danielle Seihean, Sabrina Turbant-Leclere, Ian R MacKenzie, Catriona McLean, Matthew D Cykowski, John F Ervin, Shih-Hsiu J Wang, Caroline Graff, Inger Nennesmo, Rashed M Nagra, James Riehl, Gabor G Kovacs, Giorgio Giaccone, Benedetta Nacmias, Manuela Neumann, Lee-Cyn Ang, Elizabeth C Finger, Cornelis Blauwendraat, Mike A Nalls, Andrew B Singleton, Dan Vitale, Cristina Cunha, Agostinho Carvalho, Zbigniew K Wszolek, Huw R Morris, Rosa Rademakers, John A Hardy, Dennis W Dickson, Jonathan D Rohrer, Owen A Ross
Publikováno v:
medRxiv
BackgroundPick’s disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eb436da4c7362a38f76655e19fddf0a
https://europepmc.org/articles/PMC10168402/
https://europepmc.org/articles/PMC10168402/
Autor:
Inés del Cerro, Gerard Blasco, Jordi Gascon, Inmaculada Rico, Mónica Giménez, Mikel Urretavizcaya, Pol Canal-Noguer, Virginia Soria, Andrés Guinea-Izquierdo, Isidre Ferrer, Ramón Reñé, Ignacio Martínez-Zalacaín, Angels Camins, Carles Soriano-Mas, Carlos Aguilera, José M. Menchón
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
PeerJ
PeerJ, Vol 9, p e10828 (2021)
Universidad de Barcelona
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
PeerJ
PeerJ, Vol 9, p e10828 (2021)
Background The locus coeruleus (LC) is the major noradrenergic source in the central nervous system. Structural alterations in the LC contribute to the pathophysiology of different neuropsychiatric disorders, which may increase to a variable extent t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::405cd60e62e074d26c54b1bca5f5f319
http://hdl.handle.net/2445/176018
http://hdl.handle.net/2445/176018
Akademický článek
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Autor:
Pudis, Michal, Bel, Laura Rodríguez, Piñera, Marina Suárez, Bescós, Sandra Bondia, Ramos, Carolina del Valle Martínez, Sanz, Belén Hervás, Moreno, Jorge Díaz, Bayarri, Jordi Gascón, Romera, Montserrat Cortés
Publikováno v:
In Revista Española de Medicina Nuclear e Imagen Molecular May 2023 42 Supplement 1:S192-S192
Publikováno v:
Journal of Bodywork and Movement Therapies. 22:348-353
Objectives To use ultrasound imaging to show how the needles in dry needling applied in the carpal tunnel can reach the transverse carpal ligament, acting on it in the form of traction-stretching when the fascial winding technique is performed. The p
Autor:
Juan Fortea, Marc Cruts, Tobi Van den Bossche, Jan Versijpt, Alessandro Padovani, Luisa Benussi, Roberta Ghidoni, Alexandre de Mendonça, Elena Lorenzo, Manuel Seijo-Martínez, Jaume Campdelacreu, Sandro Sorbi, Radoslav Matej, Peter Paul De Deyn, Panagiotis Alexopoulos, Olivier Deryck, Albert Lladó, Pau Pastor, Frederico Simões do Couto, Rik Vandenberghe, Estrella Gómez-Tortosa, Zdenek Rohan, Jordi Clarimón, Anne Sieben, Jordi Gascon, Isabel Santana, Maria A. Pastor, Maria Koutroumani, Madalena Martins, Sebastiaan Engelborghs, Janine Diehl-Schmid, Christine Van Broeckhoven, Benedetta Nacmias, Patrick Santens, Lubina Dillen, Ilse Gijselinck, Giuliano Binetti, Silvia Bagnoli, Bruno Bergmans, Agustín Ruiz, Raquel Sánchez-Valle, Barbara Borroni, Maria Rosário Almeida, Kristel Sleegers, Ellen Gelpi, Adrian Ivanoiu, Bavo Heeman, Cristina Razquin, Magda Tsolaki, Elena Iglesias, Caroline Graff, Johan Goeman, Alberto Lleó, Valentina Bessi, Laura Fratiglioni, Jan Verheijen, Alex Michotte, Jan De Bleecker, Rafael Blesa, Julie van der Zee, Eric Salmon, Ramón Reñé, Dirk Nuytten, Mathieu Vandenbulcke, Bart Dermaut, Håkan Thonberg, Christiana Willems
Publikováno v:
Neurobiology of Aging
Neurobiology of aging, Vol. 62, p. 245.e1-245.e7 (2018)
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging
Neurobiology of aging, Vol. 62, p. 245.e1-245.e7 (2018)
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ed5857598d419a89a3fe6fb32883e4
http://hdl.handle.net/2158/1107096
http://hdl.handle.net/2158/1107096
Autor:
Carles Soriano-Mas, Ramón Reñé, Andrés Guinea-Izquierdo, Carlos Aguilera, A.L. Leon, I. Martínez-Zalacaín, Mikel Urretavizcaya, Jordi Gascon, I. Del Cerro, Virginia Soria, J.M. Menchón
Publikováno v:
European Neuropsychopharmacology. 29:S456-S457