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Page 1
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Hüning I, Iascone M, Isidor B, Järvelä I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kölbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppälä J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG; Undiagnosed Diseases Network; Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D. Lessel I, et al. Among authors: tolosa e. Am J Hum Genet. 2025 Jan 3:S0002-9297(24)00454-3. doi: 10.1016/j.ajhg.2024.12.012. Online ahead of print. Am J Hum Genet. 2025. PMID: 39798569 Free article.
Novel inhibitory effect of Omega-3 fatty acids regulating pancreatic cancer progression.
Garay MI, Mazo T, Ferrero V, Barotto NN, Lagares C, Granton MF, Moreira-Espinoza MJ, Cremonezzi DC, Comba A, Brunotto MN, Tolosa EJ, Fernandez-Zapico ME, Pasqualini ME. Garay MI, et al. Among authors: tolosa ej. Carcinogenesis. 2025 Jan 1:bgae081. doi: 10.1093/carcin/bgae081. Online ahead of print. Carcinogenesis. 2025. PMID: 39742417
α-Synuclein Gene Hypomethylation in LRRK2 Parkinson's Disease Patients.
de Mena L, Parés G, Garrido A, Pilco-Janeta DF, Fernández M, Pérez J, Tolosa E, Cámara A, Valldeoriola F, Ezquerra M, Martí MJ, Fernández-Santiago R; Barcelona LRRK2 Study Group. de Mena L, et al. Among authors: tolosa e. Mov Disord. 2024 Dec 23. doi: 10.1002/mds.30094. Online ahead of print. Mov Disord. 2024. PMID: 39711195
In-depth mass-spectrometry reveals phospho-RAB12 as a blood biomarker of G2019S LRRK2-driven Parkinson's disease.
Cortés A, Phung TK, de Mena L, Garrido A, Infante J, Ruíz-Martínez J, Galmés-Ordinas MÀ, Glendinning S, Pérez J, Roig A, Soto M, Cosgaya M, Ravasi V, Fernández M, Rubiano-Castro A, Díaz R, Hernández-Eguiazu H, Sánchez-Quintana C, Vinagre-Aragón A, Mondragón E, Croitoru I, Rivera-Sánchez M, Corrales-Pardo A, Sierra M, Tolosa E, Malagelada C, Nirujogi RS, Fernández-Irigoyen J, Santamaría E, Alessi DR, J Martí M, Ezquerra M, Fernández-Santiago R. Cortés A, et al. Among authors: tolosa e. Brain. 2024 Dec 20:awae404. doi: 10.1093/brain/awae404. Online ahead of print. Brain. 2024. PMID: 39705401
Cuneus atrophy and Parkinsonian phenoconversion in cognitively unimpaired patients with isolated REM sleep behavior disorder.
Baun AM, Iranzo A, Terkelsen MH, Stokholm MG, Stær K, Serradell M, Otto M, Svendsen KB, Garrido A, Vilas D, Santamaria J, Møller A, Gaig C, Brooks DJ, Borghammer P, Tolosa E, Eskildsen SF, Pavese N. Baun AM, et al. Among authors: tolosa e. J Neurol. 2024 Dec 16;272(1):59. doi: 10.1007/s00415-024-12762-x. J Neurol. 2024. PMID: 39680182
Fluorescence based live cell imaging identifies exon 14 skipped hepatocyte growth factor receptor (MET) degraders.
Mallareddy JR, Yang L, Lin WH, Feathers R, Ayers-Ringler J, Tolosa E, Kizhake AG, Kizhake S, Kubica SP, Boghean L, Alvarez S, Naldrett MJ, Singh S, Rana S, Zahid M, Schaefer-Klein J, Roden A, Kosari F, Anastasiadis PZ, Borad M, Natarajan A, Mansfield AS. Mallareddy JR, et al. Among authors: tolosa e. bioRxiv [Preprint]. 2024 Nov 25:2024.11.22.624922. doi: 10.1101/2024.11.22.624922. bioRxiv. 2024. PMID: 39651287 Free PMC article. Preprint.
Preferences regarding Disclosure of Risk for Parkinson's Disease in a Population-based Study.
Mahlknecht P, Leiter S, Horlings C, Schwarzová K, Egner I, Stockner H, Marini K, Theyer C, Zamarian L, Djamshidian A, Seppi K, Farfan F, Garrido A, Ghosh S, Krüger R, McIntyre D, Mollenhauer B, Noyce A, Pauly C, Pilco-Janeta DF, Rege K, Satagopam VP, Schade S, Simonet C, Trenkwalder C, Poewe W; HeBA Consortium. Mahlknecht P, et al. Mov Disord Clin Pract. 2024 Nov 18. doi: 10.1002/mdc3.14264. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 39558636
922 results