Corrigendum: Clinical and genetic analysis of Costa Rican patients with Parkinson's disease

Autor: Gabriel Torrealba-Acosta, Eric Yu, Tanya Lobo-Prada, Javier Ruíz-Martínez, Ana Gorostidi-Pagola, Ziv Gan-Or, Kenneth Carazo-Céspedes, Jean-François Trempe, Ignacio F. Mata, Jaime Fornaguera-Trías

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

Externí odkaz: https://doaj.org/article/ec97e38b4e224e7c8da58d8fff9fcb50

R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils

Autor: Teresa Ximelis, Eduardo Tolosa, Leticia Pérez Sisqués, Jonas Düring, Raja Sekhar Nirujogi, Francesc Valldeoriola, Alicia Garrido, Ioana Croitoru, Laura Molina Porcel, Alberto Bergareche-Yarza, Dario R. Alessi, Esther Sammler, Ying Fan, Neringa Pratuseviciute, Roy N. Alcalay, Cristina Malagelada, Ana Gorostidi Pagola, Sara Gomes, María José Martí, Laura Paternain Markinez, Javier Ruiz-Martínez, Elisabet Mondragón-Rezola, Ana Vinagre-Aragón, Richard A. Hickman, Shalini Padmanabhan

Publikováno v: Acta Neuropathologica

Heterozygous gain-of-kinase function variants in LRRK2 (leucine-rich repeat kinase 2) cause 1–2% of all cases of Parkinson’s disease (PD) albeit with incomplete and age-dependent penetrance. All pathogenic LRRK2 mutations reside within the two ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e18b8a16950f159c1167b789f7006b3d
https://doi.org/10.1007/s00401-021-02325-z

Identification of sixteen novel candidate genes for late onset Parkinson's disease

Autor: Gialluisi, Alessandro, Reccia, Mafalda Giovanna, Modugno, Nicola, Nutile, Teresa, Lombardi, Alessia, Di Giovannantonio, Luca Giovanni, Pietracupa, Sara, Ruggiero, Daniela, Scala, Simona, Gambardella, Stefano, Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A., Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helen, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Wood, Nicholas W., Lewis, Patrick, Schreglmann, Sebastian, Lovering, Rruth, R'Bibo, Lea, Manzoni, Claudia, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E., Clarke, Carl, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Cookson, Mark R., Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W., Narendra, Derek, Faghri, Faraz, Gibbs, J.Raphael, Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., Iwaki, Hirotaka, Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B., Scholz, Sonja W., Reed, Xylena, Alcalay, Roy N., Gan-Or, Zin, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Aguilar Barberà, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, M, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi Pagola, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, López de Munain Arregui, Adolfo, Macias, Daniel, Martínez Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-del-Barrio, Carlota, Menéndez González, Manuel, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Mondragon Rezola, Elisabet, Muñoz, Esteban, Pagonabarraga Mora, Javier, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Sanchez Rodriguez, Antonio, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Majamaa, Kari, Siitonen, Ari, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Shashkin, Chingiz, Zharkynbekova, Nazira, Akhmetzhanov, Vadim, Aitkulova, Akbota, Zholdybayeva, Elena, Zharmukhanov, Zharkyn, Kaishybayeva, Gulnaz, Karimova, Altynay, Sadykova, Dinara, Iacoviello, Licia, Gianfrancesco, F., Acampora, D., D'Esposito, M., Simeone, A., Ciullo, M., Esposito, T.

Publikováno v: Molecular neurodegeneration 16, 35 (2021)
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Molecular Neurodegeneration
Molecular neurodegeneration 16 (2021): 35. doi:10.1186/s13024-021-00455-2
info:cnr-pdr/source/autori:Gialluisi A.; Reccia M.G.; Modugno N.; Nutile T.; Lombardi A.; Di Giovannantonio L.G.; Pietracupa S.; Ruggiero D.; Scala S.; Gambardella S.; Iacoviello L.; Gianfrancesco F.; Acampora D.; D'Esposito M.; Simeone A.; Ciullo M.; Esposito T./titolo:Identification of sixteen novel candidate genes for late onset Parkinson's disease/doi:10.1186%2Fs13024-021-00455-2/rivista:Molecular neurodegeneration/anno:2021/pagina_da:35/pagina_a:/intervallo_pagine:35/volume:16
Gialluisi, A, Reccia, M G, Modugno, N, Nutile, T, Lombardi, A, Di Giovannantonio, L G, Pietracupa, S, Ruggiero, D, Scala, S, Gambardella, S, Iacoviello, L, Gianfrancesco, F, Acampora, D, D'Esposito, M, Simeone, A, Ciullo, M, Esposito, T & Morrison, K E 2021, ' Identification of sixteen novel candidate genes for late onset Parkinson's disease ', Molecular Neurodegeneration, vol. 16, 35 . https://doi.org/10.1186/s13024-021-00455-2
Molecular neurodegeneration, vol 16, iss 1
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-18 (2021)
Molecular neurodegeneration

Background Parkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. He

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c06eb493f63a6ca32b1a3e8f8714119
http://hdl.handle.net/10902/24037

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Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

Autor: Billingsley, Kimberley J, Barbosa, Ines A, Bandres-Ciga, Sara, Quinn, John P, Bubb, Vivien J, Deshpande, Charu, Botia, Juan A, Reynolds, Regina H, Zhang, David, Simpson, Michael A, Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J Raphael, Nalls, Mike A, Singleton, Andrew, Ryten, Mina, Koks, Sulev, Noyce, A, Tucci, A, Middlehurst, B, Kia, D, Tan, M, Houlden, H, Morris, HR, Plun-Favreau, H, Holmans, P, Hardy, J, Trabzuni, D, Bras, J, Mok, K, Kinghorn, K, Wood, N, Lewis, P, Guerreiro, R, Loverin, R, R'Bibo, L, Rizig, M, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Brice, A, Danjou, F, Lesage, S, Martinez, M, Giri, A, Schulte, C, Brockmann, K, Simon-Sanchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Nicolas, A, Cookson, M, Faghri, F, Hernandez, D, Shulman, J, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, N, Lungu, C, Scholz, S, Reed, X, Leonard, H, Rouleau, G, Krohan, L, van Hilten, J, Marinus, J, Adarmes-Gomez, A, Aguilar, M, Alvarez, I, Alvarez, V, Javier Barrero, F, Bergareche Yarza, J, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio Bernal, M, Boungiorne, M, Buiza-Rueda, Dolores, Camara, A, Carcel, M, Carrillo, F, Carrion-Claro, M, Cerdan, D, Clarimon, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, RI, Escamilla-Sevilla, F, Ezquerra, M, Fernandez, M, Fernandez-Santiago, R, Garcia, C, Garcia-Ruiz, P, Gomez-Garre, P, Gomez Heredia, M, Gonzalez-Aramburu, I, Gorostidi Pagola, A, Hoenicka, J, Infante, J, Jesus, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, M, Lopez-Sendon, J, de Munain Arregui, A Lopez, Macias, D, Martinez Torres, I, Marin, J, Jose Marti, M, Martinez-Castrillo, J, Mendez-del-Barrio, C, Menendez Gonzalez, M, Minguez, A, Mir, P, Mondragon Rezola, E, Munoz, E, Pagonabarraga, J, Pastor, P, Perez Errazquin, F, Perinan-Tocino, T, Ruiz-Martinez, J, Ruz, C, Sanchez Rodriguez, A, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Pablo Tartari, J, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-Gonzalez, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Taba, P, Majamaa, K, Siitonen, A, Okubadejo, N, Ojo, O, IPDGC

Publikováno v: NPJ Parkinson's Disease
NPJ Parkinson's disease, vol 5, iss 1
NPJ PARKINSONS DISEASE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Digibug. Repositorio Institucional de la Universidad de Granada
instname
npj Parkinson's Disease, Vol 5, Iss 1, Pp 1-9 (2019)
NPJ Parkinson's disease 5, 8 (2019)
UCrea Repositorio Abierto de la Universidad de Cantabria

Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we compre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe45b035f6dcadf93ffe24d1467d5d02
http://europepmc.org/articles/PMC6531455