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Page 1
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium; Carracedo Á, Alonso Á, Dopazo J. Peña-Chilet M, et al. Among authors: alonso a. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137. doi: 10.1093/nar/gkaa794. Nucleic Acids Res. 2021. PMID: 32990755 Free PMC article.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, 't Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S. Laurie S, et al. Among authors: alonso a. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.
Gallon R, Sheth H, Hayes C, Redford L, Alhilal G, O'Brien O, Spiewak H, Waltham A, McAnulty C, Izuogu OG, Arends MJ, Oniscu A, Alonso AM, Laguna SM, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J. Gallon R, et al. Among authors: alonso am. Hum Mutat. 2020 Jan;41(1):332-341. doi: 10.1002/humu.23906. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31471937 Free PMC article.
A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.
Redford L, Alhilal G, Needham S, O'Brien O, Coaker J, Tyson J, Amorim LM, Middleton I, Izuogu O, Arends M, Oniscu A, Alonso ÁM, Laguna SM, Gallon R, Sheth H, Santibanez-Koref M, Jackson MS, Burn J. Redford L, et al. Among authors: alonso am. PLoS One. 2018 Aug 29;13(8):e0203052. doi: 10.1371/journal.pone.0203052. eCollection 2018. PLoS One. 2018. PMID: 30157243 Free PMC article.
Coexisting Parkinson's and Wilson's Disease: Chance or Connection?
Gasca-Salas C, Alonso A, González-Redondo R, Obeso JA. Gasca-Salas C, et al. Among authors: alonso a. Can J Neurol Sci. 2017 Mar;44(2):215-218. doi: 10.1017/cjn.2016.327. Epub 2016 Nov 10. Can J Neurol Sci. 2017. PMID: 27831460 No abstract available.
The decline in postural balance has a negative impact on the performance of functional tasks in individuals with Parkinson's Disease.
Luna NMS, Bobbio TG, de Graaf M, Greve JMD, Ernandes RC, Dias AS, Lino MHDS, Soares-Junior JM, Baracat EC, Mochizuki L, Brech GC, Alonso AC. Luna NMS, et al. Among authors: alonso ac. Clinics (Sao Paulo). 2024 May 16;79:100382. doi: 10.1016/j.clinsp.2024.100382. eCollection 2024. Clinics (Sao Paulo). 2024. PMID: 38759438 Free article.
Andexanet for Factor Xa Inhibitor-Associated Acute Intracerebral Hemorrhage.
Connolly SJ, Sharma M, Cohen AT, Demchuk AM, Członkowska A, Lindgren AG, Molina CA, Bereczki D, Toni D, Seiffge DJ, Tanne D, Sandset EC, Tsivgoulis G, Christensen H, Beyer-Westendorf J, Coutinho JM, Crowther M, Verhamme P, Amarenco P, Roine RO, Mikulik R, Lemmens R, Veltkamp R, Middeldorp S, Robinson TG, Milling TJ Jr, Tedim-Cruz V, Lang W, Himmelmann A, Ladenvall P, Knutsson M, Ekholm E, Law A, Taylor A, Karyakina T, Xu L, Tsiplova K, Poli S, Kallmünzer B, Gumbinger C, Shoamanesh A; ANNEXA-I Investigators. Connolly SJ, et al. N Engl J Med. 2024 May 16;390(19):1745-1755. doi: 10.1056/NEJMoa2313040. N Engl J Med. 2024. PMID: 38749032 Clinical Trial.
3,338 results