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Page 1
Natural history of SGCE-associated myoclonus dystonia in children and adolescents.
De Francesch V, Cazurro-Gutiérrez A, Timmers ER, Español-Martín G, Ferrero-Turrión J, Gómez-Andrés D, Marcé-Grau A, Dougherty-de Miguel L, González V, Moreno-Galdó A, Tijssen MAJ, Pérez-Dueñas B. De Francesch V, et al. Among authors: gomez andres d. Dev Med Child Neurol. 2024 Dec 16. doi: 10.1111/dmcn.16214. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 39679832
Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera De Benito D, Nascimiento Osorio A, Estévez Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B, Savarese M. Di Feo MF, et al. Among authors: gomez andres d. Ann Clin Transl Neurol. 2024 Oct;11(10):2745-2755. doi: 10.1002/acn3.52189. Epub 2024 Aug 28. Ann Clin Transl Neurol. 2024. PMID: 39198997 Free PMC article.
Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE.
Turón-Viñas E, Boronat S, Gich I, González Álvarez V, García-Puig M, Camós Carreras M, Rodriguez-Palmero A, Felipe-Rucián A, Aznar-Laín G, Jiménez-Fàbrega X, Pérez de la Ossa N; Catalan Pediatric Stroke Study Group. Turón-Viñas E, et al. Stroke. 2024 Sep;55(9):2240-2246. doi: 10.1161/STROKEAHA.124.046846. Epub 2024 Jul 25. Stroke. 2024. PMID: 39051112
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain. Lasa-Aranzasti A, et al. Among authors: gomez andres d. Mov Disord. 2024 Sep;39(9):1578-1591. doi: 10.1002/mds.29881. Epub 2024 Jun 16. Mov Disord. 2024. PMID: 38881224
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi… See abstract for full author list ➔ Küry S, et al. Among authors: gomez andres d. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
EPITRANS. Quality assessment of the epilepsy transition process.
Ortiz de Zarate Z, Fonseca E, Abraira L, Santamarina E, Campos-Fernández D, Quintana M, Sánchez J, Goméz-Andrés D, Sala J, Raspall M, Felipe-Rucián A, Del Toro M, Macaya A, Toledo M. Ortiz de Zarate Z, et al. Among authors: gomez andres d. Eur J Paediatr Neurol. 2024 Jan;48:121-128. doi: 10.1016/j.ejpn.2024.01.004. Epub 2024 Jan 12. Eur J Paediatr Neurol. 2024. PMID: 38241904
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: gomez andres d. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum.
Illán-Gala I, Lorca-Puls DL, Tee BL, Ezzes Z, de Leon J, Miller ZA, Rubio-Guerra S, Santos-Santos M, Gómez-Andrés D, Grinberg LT, Spina S, Kramer JH, Wauters LD, Henry ML, Boxer AL, Rosen HJ, Miller BL, Seeley WW, Mandelli ML, Gorno-Tempini ML. Illán-Gala I, et al. Among authors: gomez andres d. Brain. 2024 Apr 4;147(4):1511-1525. doi: 10.1093/brain/awad396. Brain. 2024. PMID: 37988272 Free PMC article.
49 results