Publicacions
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Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos F, Schlune A, Tsiakas K, Zerjav Tansek M and Baumgartner MR.
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
JOURNAL OF INHERITED METABOLIC DISEASE . 38(5): 957-967. Nº de cites: 31
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Hole M, Underhaug J, Diez H, Ying M, Røhr ÅK, Jorge-Finnigan A, Fernàndez-Castillo N, Garcia-Cazorla A, Andersson KK, Teigen K and Martinez A.
Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS . 1854(9): 1078-1089. Nº de cites: 19
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Candela-Cantó SA, Puerta P, Alamar M, Barcik U, Guillén A, Muchart-Lopez J, García-Fructuoso G and Ferrer-Rodríguez E.
Epidemiology and classification of arachnoid cysts in children
Neurocirugia . 26(5): 234-240. Nº de cites: 2
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Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell-Sampol L, Garcia-Cazorla A, Ozyürek H, Haliloglu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J and Doherty D.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
JOURNAL OF MEDICAL GENETICS . 52(8): 514-522. Nº de cites: 203
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Taboas-Pereira MA, Paredes-Mercado C, Xenia Alonso, Badosa-Pages J, Muchart-Lopez J and Poo P.
Drooling therapy in children with neurological disorders
REVISTA DE NEUROLOGIA . 61(2): 66-70. Nº de cites: 2
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Molero M, Serrano M, O'Callaghan-Gordo M, Sierra-March C, Pérez-Dueñas B, Garcia-Cazorla A and Artuch-Iriberri R.
Clinical, etiological and therapeutic aspects of cerebral folate deficiency
EXPERT REVIEW OF NEUROTHERAPEUTICS . 15(7): 793-802. Nº de cites: 20
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O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.
Mutation loads in different tissues from six pathogenic mtDNA point mutations
Mitochondrion . 22: 17-22. Nº de cites: 13
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Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, O'Callaghan-Gordo M, Campistol-Plana J, Zhao H, Campistol JM, Moraes CT and Izpisua Belmonte JC.
Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing
Cell . 161(3): 459-469. Nº de cites: 214
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Garcia-Cazorla A, Cortés-Saladelafont E and Duarte S.
Neuronal communication and synaptic metabolism in childhood epilepsy
REVISTA DE NEUROLOGIA . 60(5): 219-228. Nº de cites: 1
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Crow YJ, Chase DS, Schmidt JL, Szynkiewicz M, Forte GMA, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Genevieve, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J. V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D'Arrigo, Stefano, De Goede, Christian G. E. L., De Laet, Corinne, De Waele, Liesbeth M. H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, Antonio, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Lent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean-Pierre S. -M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenco, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E. V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas B, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Regal, Luc, Ricci, Federica, Rio, Marlene, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stoedberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona and Rice, Gillian I..
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 167(2): 296-312. Nº de cites: 374