Publications
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Kim, Jonggeol Jeffrey, Vitale, Dan, Otani, Diego Veliz, Lian, Michelle Mulan, Heilbron, Karl, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cannon, Paul, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Eriksson, Nicholas, Filshtein, Teresa, Fitch, Alison, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Granka, Julie M., Hernandez, Alejandro, Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Kukar, Katelyn, Kwong, Alan, Lin, Keng-Han, Llamas, Bianca A., Lowe, Maya, McCreight, Jey C., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Nandakumar, Priyanka, Nguyen, Dominique T., Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Reynoso, Alexandra, Schloetter, Madeleine, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Su, Qiaojuan Jane, Tat, Susana A., Tchakoute, Christophe Toukam, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Wong, Corinna D., Iwaki, Hirotaka, Lake, Julie, Solsberg, Caroline Warly, Leonard, Hampton, Makarious, Mary B., Tan, Eng-King, Singleton, Andrew B., Bandres-Ciga, Sara, Noyce, Alastair J., Gatto, Emilia M., Kauffman, Marcelo, Khachatryan, Samson, Tavadyan, Zaruhi, Shepherd, Claire E., Hunter, Julie, Kumar, Kishore, Ellis, Melina, Renteria, Miguel E., Koks, Sulev, Zimprich, Alexander, Schumacher-Schuh, Artur F., Rieder, Carlos, Awad, Paula Saffie, Tumas, Vitor, Camargos, Sarah, Fon, Edward A., Monchi, Oury, Fon, Ted, Galleguillos, Benjamin Pizarro, Miranda, Marcelo, Bustamante, Maria Leonor, Olguin, Patricio, Chana, Pedro, Tang, Beisha, Shang, Huifang, Guo, Jifeng, Chan, Piu, Luo, Wei, Arboleda, Gonzalo, Orozc, Jorge, del Rio, Marlene Jimenez, Hernandez, Alvaro, Salama, Mohamed, Kamel, Walaa A., Zewde, Yared Z., Brice, Alexis, Corvol, Jean-Christophe, Westenberger, Ana, Illarionova, Anastasia, Mollenhauer, Brit, Klein, Christine, Vollstedt, Eva-Juliane, Hopfner, Franziska, Hoglinger, Gunter, Madoev, Harutyun, Trinh, Joanne, Junker, Johanna, Lohmann, Katja, Lange, Lara M., Sharma, Manu, Groppa, Sergiu, Gasser, Thomas, Fang, Zih-Hua, Akpalu, Albert, Xiromerisiou, Georgia, Hadjigorgiou, Georgios, Dagklis, Ioannis, Tarnanas, Ioannis, Stefanis, Leonidas, Stamelou, Maria, Dadiotis, Efthymios, Medina, Alex, Chan, Germaine Hiu-Fai, Ip, Nancy, Cheung, Nelson Yuk-Fai, Chan, Phillip, Zhou, Xiaopu, Kishore, Asha, Divya, K. P., Pal, Pramod, Kukkle, Prashanth Lingappa, Rajan, Roopa, Borgohain, Rupam, Salari, Mehri, Quattrone, Andrea, Valente, Enza Maria, Parnetti, Lucilla, Avenali, Micol, Schirinzi, Tommaso, Funayama, Manabu, Hattori, Nobutaka, Shiraishi, Tomotaka, Karimova, Altynay, Kaishibayeva, Gulnaz, Shambetova, Cholpon, Krueger, Rejko, Tan, Ai Huey, Ahmad-Annuar, Azlina, Norlinah, Mohamed Ibrahim, Murad, Nor Azian Abdul, Azmin, Shahrul, Lim, Shen-Yang, Mohamed, Wael, Tay, Yi Wen, Martinez-Ramirez, Daniel, Rodriguez-Violante, Mayela, Reyes-Perez, Paula, Tserensodnom, Bayasgalan, Ojha, Rajeev, Anderson, Tim J., Pitcher, Toni L., Sanyaolu, Arinola, Okubadejo, Njideka, Ojo, Oluwadamilola, Aasly, Jan O., Pihlstrom, Lasse, Tan, Manuela, Ur-Rehman, Shoaib, Veliz-Otani, Diego, Cornejo-Olivas, Mario, Doquenia, Maria Leila, Rosales, Raymond, Vinuela, Angel, Iakovenko, Elena, Al Mubarak, Bashayer, Umair, Muhammad, Amod, Ferzana, Carr, Jonathan, Bardien, Soraya, Jeon, Beomseok, Kim, Yun Joong, Cubo, Esther, Alvarez, Ignacio, Hoenicka J, Beyer, Katrin, Perinan, Maria Teresa, Pastor, Pau, El-Sadig, Sarah, Brolin, Kajsa, Zweier, Christiane, Tinkhauser, Gerd, Krack, Paul, Lin, Chin-Hsien, Wu, Hsiu-Chuan, Kung, Pin-Jui, Wu, Ruey-Meei, Wu, Yihru, Amouri, Rim, Ben Sassi, Samia, Basak, A. Nazl, Genc, Gencer, Cakmak, Ozguer Oztop, Ertan, Sibel, Martinez-Carrasco, Alejandro, Schrag, Anette, Schapira, Anthony, Carroll, Camille, Bale, Claire, Grosset, Donald, Stafford, Eleanor J., Houlden, Henry, Morris, Huw R., Hardy, John, Mok, Kin Ying, Rizig, Mie, Wood, Nicholas, Williams, Nigel, Okunoye, Olaitan, Lewis, Patrick Alfryn, Kaiyrzhanov, Rauan, Weil, Rimona, Love, Seth, Stott, Simon, Jasaityte, Simona, Dey, Sumit, Obese, Vida, Espay, Alberto, O'Grady, Alyssa, Sobering, Andrew K., Siddiqi, Bernadette, Casey, Bradford, Fiske, Brian, Jonas, Cabell, Cruchaga, Carlos, Pantazis, Caroline B., Comart, Charisse, Wegel, Claire, Hall, Deborah, Hernandez, Dena, Shiamim, Ejaz, Riley, Ekemini, Faghri, Faraz, Serrano, Geidy E., Chen, Honglei, Mata, Ignacio F., Sarmiento, Ignacio Juan Keller, Williamson, Jared, Jankovic, Joseph, Shulman, Joshua, Solle, Justin C., Murphy, Kaileigh, Nuytemans, Karen, Kieburtz, Karl, Markopoulou, Katerina, Marek, Kenneth, Levine, Kristin S., Chahine, Lana M., Ibanez, Laura, Screven, Laurel, Ruffrage, Lauren, Shulman, Lisa, Marsili, Luca, Kuhl, Maggie, Dean, Marissa, Koretsky, Mathew, Puckelwartz, Megan J., Inca-Martinez, Miguel, Louie, Naomi, Mencacci, Niccolo Emanuele, Albin, Roger, Alcalay, Roy, Walker, Ruth, Chowdhury, Sohini, Dumanis, Sonya, Lubbe, Steven, Xie, Tao, Foroud, Tatiana, Beach, Thomas, Sherer, Todd, Song, Yeajin, Nguyen, Duan, Nguyen, Toan, Atadzhanov, Masharip, Blauwendraat, Cornelis, Nalls, Mike A., Foo, Jia Nee and Mata, Ignacio.
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease
NATURE GENETICS . 56(1): .
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Cantarero-Abad L, García-Vargas G, Hoenicka J and Palau F.
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites
BIOLOGY OPEN . 12(4): . Number of citations: 1
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Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
ACTA NEUROPATHOLOGICA . 145(4): 479-496.
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Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
Annals of Clinical and Translational Neurology . 10(3): 408-425.
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Casas-Alba D, Hoenicka J, Vilanova-Adell A, Vega-Hana L, Pijuan-Marquilles J and Palau F.
Diagnostic strategies in patients with undiagnosed and rare diseases
Journal of Translational Genetics and Genomics . 6(3): 322-332.
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 6
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Rosas I, Morís G, Coto E, Blázquez-Estrada M, Suárez E, García-Fernández C, Martínez C, Herrera ID, Pérez-Oliveira S, Álvarez V, Menéndez-González M and Spain_PD consortium.
Smoking is associated with age at disease onset in Parkinson's disease.
PARKINSONISM & RELATED DISORDERS . 97: 79-83. Number of citations: 1
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Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient
EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442. Number of citations: 1
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Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Number of citations: 7
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Nuevo-Tapioles C, Santacatterina F, Sánchez-Garrido B, Arenas CN, Robledo-Bérgamo A, Martínez-Valero P, Cantarero-Abad L, Pardo B, Hoenicka J, Murphy MP, Satrústegui J, Palau F and Cuezva JM.
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease.
HUMAN MOLECULAR GENETICS . 30(24): 2441-2455. Number of citations: 3