Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Jose Berciano"'
Autor:
Svetlana Busiguina, Ana M. Fernandez, Vicente Barrios, Ruth Clark, Daniel L. Tolbert, Jose Berciano, Ignacio Torres-Aleman
Publikováno v:
Neurobiology of Disease, Vol 7, Iss 6, Pp 657-665 (2000)
Serum levels of insulin and insulin-like growth factors and their binding proteins (IGFs and IGFBPs, respectively) are changed in human neurodegenerative diseases of very different etiology, such as Alzheimer's disease, amyotrophic lateral sclerosis,
Externí odkaz:
https://doaj.org/article/099c97e329284b43b1ab52443877e911
Publikováno v:
Case Reports in Neurology (2024)
Introduction. Alexander disease is caused by mutations in GFAP, the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case, an
Externí odkaz:
https://doaj.org/article/8e803bdcfe7f44d4879dc3794e894c76
Autor:
Carlijn D.J.M. Borm, Florian Krismer, Gregor K. Wenning, Klaus Seppi, Werner Poewe, Maria Teresa Pellecchia, Paolo Barone, Erik L. Johnsen, Karen Østergaard, Tanya Gurevich, Ruth Djaldetti, Luisa Sambati, Pietro Cortelli, Igor Petrović, Vladimir S. Kostić, Hana Brožová, Evžen Růžička, Maria Jose Marti, Eduardo Tolosa, Margherita Canesi, Bart Post, Jorik Nonnekes, Bastiaan R. Bloem, Maria Stamelou, Vladimir S. Kostic, Thomas Klockgether, Richard Dodel, Michael Abele, Wassilios Meissner, Heinz Reichmann, Tim Lynch, Jaroslaw Slawek, Mag Klaus Seppi, Daniela Berg, Joaquim Ferreira, Henry Houlden, Niall P. Quinn, Håkan Widner, Alexander Gerhard, Karla Maria Eggert, Alberto Albanese, Francesca del Sorbo, Maria T. Pellecchia, Bas Bloem, Carlijn Borm, Alfredo Berardelli, Carlo Colosimo, Jose Berciano, Latchezar Traykov, Nir Giladi, Olivier Rascol, Monique Galitzky, Thomas Gasser
Publikováno v:
Parkinsonism & Related Disorders, 56, 33-40
Parkinsonism & Related Disorders, 56, pp. 33-40
Borm, C D J M, Krismer, F, Wenning, G K, Seppi, K, Poewe, W, Pellecchia, M T, Barone, P, Johnsen, E L, Østergaard, K, Gurevich, T, Djaldetti, R, Sambati, L, Cortelli, P, Petrović, I, Kostić, V S, Brožová, H, Růžička, E, Marti, M J, Tolosa, E, Canesi, M, Post, B, Nonnekes, J, Bloem, B R & European MSA Study Group (EMSA-SG) 2018, ' Axial motor clues to identify atypical parkinsonism : A multicentre European cohort study ', Parkinsonism and Related Disorders, vol. 56, pp. 33-40 . https://doi.org/10.1016/j.parkreldis.2018.06.015
Parkinsonism & Related Disorders, 56, pp. 33-40
Borm, C D J M, Krismer, F, Wenning, G K, Seppi, K, Poewe, W, Pellecchia, M T, Barone, P, Johnsen, E L, Østergaard, K, Gurevich, T, Djaldetti, R, Sambati, L, Cortelli, P, Petrović, I, Kostić, V S, Brožová, H, Růžička, E, Marti, M J, Tolosa, E, Canesi, M, Post, B, Nonnekes, J, Bloem, B R & European MSA Study Group (EMSA-SG) 2018, ' Axial motor clues to identify atypical parkinsonism : A multicentre European cohort study ', Parkinsonism and Related Disorders, vol. 56, pp. 33-40 . https://doi.org/10.1016/j.parkreldis.2018.06.015
Item does not contain fulltext OBJECTIVE: Differentiating Parkinson's disease (PD) from atypical parkinsonian disorders (APD) such as Multiple System Atrophy, parkinsonian type (MSA-p) or Progressive Supranuclear Palsy (PSP-RS) can be challenging. Ea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4220d0a02f401c3c9a914409fb38212d
https://doi.org/10.1016/j.parkreldis.2018.06.015
https://doi.org/10.1016/j.parkreldis.2018.06.015
Autor:
Healy, Daniel G., Mario, Falchi, O'Sullivan, Sean S., Bonifati, Vincenzo, Alexandra, Durr, Susan, Bressman, Alexis, Brice, Jan, Aasly, Zabetian, Cyrus P., Stefano, Goldwurm, Ferreira, Joaquim J., Eduardo, Tolosa, Kay, Denise M., Christine, Klein, Williams, David R., Connie, Marras, Lang, Anthony E., Wszolek, Zbigniew K., Jose, Berciano, Schapira, Anthony H. V., Timothy, Lynch, Bhatia, Kailash P., Thomas, Gasser, Lees, Andrew J., Wood, Nicholas W., International Lrrk Consortium, Collaborators, Tazir, M., Ysmail Dahlouk, F., Belarbi, S., Hecham, N., Barbosa, E., Chien, H. F., Rieder, C. R., Jardim, L. B., Rogaeva, E., Lesage, S., Lohmann, E., Vidailhet, M., Bonnet, A. M., Agid, Y., Pollak, P., Tison, F., Durif, F., Broussolle, E., Berg, D., Hagenah, J., Gosal, D., Gibson, M., Vanacore, Nicola, Berardelli, Alfredo, Fabbrini, Giovanni, Fabrizio, E., Meco, Giuseppe, Stocchi, F., Dalla Libera, A., De Mari, M., Lamberti, P., Cossu, G., Pezzoli, G., Zini, M., Tesei, S., Zecchinelli, A., Sironi, F., Antonini, A., Mariani, C., Sacilotto, G., Meucci, N., Canesi, M., Di Fonzo, A., Oostra, B., Correia Guedes, L., Rosa, Mm, Coelho, M., Sampaio, C., Gaig, C., C. S., Lu, Wu Chou, Y. H., Quinn, N. P., Abou Sleiman, P. M., Muqit, M. M., Khan, N. L., Gandhi, S., Vaughan, J., Payami, H., Nutt, J. J., Factor, S. A., Higgins, D. S., Farrer, M. J., Hulihan, M., Brown, L., Mata, I. F., Samii, A., Yearout, D., Griffith, A., Leis, B. C., Roberts, J. W.
Publikováno v:
Lancet Neurology, 7(7), 583-590. Lancet Publishing Group
The Lancet Neurology
The Lancet Neurology, 2008, 7 (7), pp.583-590
The Lancet Neurology, Elsevier, 2008, 7 (7), pp.583-590
The Lancet Neurology
The Lancet Neurology, 2008, 7 (7), pp.583-590
The Lancet Neurology, Elsevier, 2008, 7 (7), pp.583-590
Summary Background Mutations in LRRK2 , the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer three key clinical questions: can LRRK2 -associated PD b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86cd088b2dcd94204ede5ac47e6f14f6
Autor:
Daniel G, Healy, Patrick M, Abou-Sleiman, Tetsutaro, Ozawa, Andrew J, Lees, Kailash, Bhatia, Kourosh R, Ahmadi, Ullrich, Wullner, Jose, Berciano, J Carsten, Moller, Christoph, Kamm, Katrin, Burk, Paolo, Barone, Eduardo, Tolosa, Niall, Quinn, David B, Goldstein, Nicholas W, Wood, Paolo, Barrone
Publikováno v:
Annals of Neurology. 55:443-446
A functional -1021C --> T polymorphism in the dopamine beta-hydroxylase gene has been demonstrated to regulate plasma DBH activity. We report that individuals with genetically determined low serum DBH activity (genotype T/T) have protection against P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2695551bec813719d0a102a015bcbf6
https://doi.org/10.1002/ana.20063
https://doi.org/10.1002/ana.20063
Autor:
Cinta Lleixà, Lorena Martín-Aguilar, Elba Pascual-Goñi, Teresa Franco, Marta Caballero, Noemí de Luna, Eduard Gallardo, Xavier Suárez-Calvet, Laura Martínez-Martínez, Jordi Diaz-Manera, Ricard Rojas-García, Elena Cortés-Vicente, Joana Turón, Carlos Casasnovas, Christian Homedes, Gerardo Gutiérrez-Gutiérrez, María Concepción Jimeno-Montero, José Berciano, Maria José Sedano-Tous, Tania García-Sobrino, Julio Pardo-Fernández, Celedonio Márquez-Infante, Iñigo Rojas-Marcos, Ivonne Jericó-Pascual, Eugenia Martínez-Hernández, Germán Morís de la Tassa, Cristina Domínguez-González, Cándido Juárez, Isabel Illa, Luis Querol
Publikováno v:
Journal of Neuroinflammation, Vol 18, Iss 1, Pp 1-13 (2021)
Abstract Background Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain unknown in a substa
Externí odkaz:
https://doaj.org/article/4683d496544444ce8ced3a1c5a156d32
Autor:
Martin, Köllensperger, Felix, Geser, Jean-Pierre, Ndayisaba, Sylvia, Boesch, Klaus, Seppi, Karen, Ostergaard, Erik, Dupont, A, Cardozo, Eduardo, Tolosa, Michael, Abele, Thomas, Klockgether, Farid, Yekhlef, Francois, Tison, Christine, Daniels, Günther, Deuschl, Miguel, Coelho, Cristina, Sampaio, Maria, Bozi, Niall, Quinn, Anette, Schrag, Chris J, Mathias, Clare, Fowler, Christer F, Nilsson, Håkan, Widner, Nicole, Schimke, Wolfgang, Oertel, Francesca, Del Sorbo, Alberto, Albanese, Maria Teresa, Pellecchia, Paolo, Barone, Ruth, Djaldetti, Carlo, Colosimo, Giuseppe, Meco, Antonio, Gonzalez-Mandly, Jose, Berciano, Tanya, Gurevich, Nir, Giladi, Monique, Galitzky, Olivier, Rascol, Christoph, Kamm, Thomas, Gasser, Uwe, Siebert, Werner, Poewe, Gregor K, Wenning
Publikováno v:
Köllensperger, M, Geser, F, Ndayisaba, J-P, Boesch, S, Seppi, K, Østergaard, K, Dupont, E, Cardozo, A, Tolosa, E, Abele, M, Klockgether, T, Yekhlef, F, Tison, F, Daniels, C, Deuschl, G, Coelho, M, Sampaio, C, Bozi, M, Quinn, N, Schrag, A, Mathias, C J, Fowler, C, Nilsson, C F, Widner, H, Schimke, N, Oertel, W, Del Sorbo, F, Albanese, A, Pellecchia, M T, Barone, P, Djaldetti, R, Colosimo, C, Meco, G, Gonzalez-Mandly, A, Berciano, J, Gurevich, T, Giladi, N, Galitzky, M, Rascol, O, Kamm, C, Gasser, T, Siebert, U, Poewe, W, Wenning, G K & EMSA-SG 2010, ' Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry ', Movement Disorders, vol. 25, no. 15, pp. 2604-12 . https://doi.org/10.1002/mds.23192
Multiple system atrophy (MSA) is a Parkinson's Disease (PD)-like α-synucleinopathy clinically characterized by dysautonomia, parkinsonism, cerebellar ataxia, and pyramidal signs in any combination. We aimed to determine whether the clinical presenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e3b13489c415150d92fa0168063fb714
https://pure.au.dk/portal/da/publications/presentation-diagnosis-and-management-of-multiple-system-atrophy-in-europe-final-analysis-of-the-european-multiple-system-atrophy-registry(484fe90e-63c0-44a1-a3b0-9966e4a0db1e).html
https://pure.au.dk/portal/da/publications/presentation-diagnosis-and-management-of-multiple-system-atrophy-in-europe-final-analysis-of-the-european-multiple-system-atrophy-registry(484fe90e-63c0-44a1-a3b0-9966e4a0db1e).html
Autor:
José Gazulla, Silvia Izquierdo-Alvarez, Emilio Ruiz-Fernández, Alba Lázaro-Romero, José Berciano
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 2, Pp 347-354 (2021)
Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novel CACNA1G va
Externí odkaz:
https://doaj.org/article/328eb3229eeb4e5ba26f3f73a8e986ef
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 2, Pp 414-421 (2021)
Cerebellar ataxia preceding the apparition of primary lateral sclerosis (PLS) is reported herein. Three individuals from 2 independent kindreds experienced ataxia before developing clinical signs of PLS. Disease onset was during the sixth decade or l
Externí odkaz:
https://doaj.org/article/34c207ee6d8b4bd98e81208bc1de2062
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by
Externí odkaz:
https://doaj.org/article/ce39a702080648d289723b9620a8e877