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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
2002 2
2003 4
2004 3
2005 4
2006 3
2007 2
2008 3
2009 5
2010 5
2011 1
2012 6
2013 4
2014 7
2015 4
2016 5
2017 4
2018 7
2019 6
2020 7
2021 12
2022 4
2023 6
2024 3

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101 results

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Page 1
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: camacho a. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Effect of Intravenous Fluid Treatment With a Balanced Solution vs 0.9% Saline Solution on Mortality in Critically Ill Patients: The BaSICS Randomized Clinical Trial.
Zampieri FG, Machado FR, Biondi RS, Freitas FGR, Veiga VC, Figueiredo RC, Lovato WJ, Amêndola CP, Serpa-Neto A, Paranhos JLR, Guedes MAV, Lúcio EA, Oliveira-Júnior LC, Lisboa TC, Lacerda FH, Maia IS, Grion CMC, Assunção MSC, Manoel ALO, Silva-Junior JM, Duarte P, Soares RM, Miranda TA, de Lima LM, Gurgel RM, Paisani DM, Corrêa TD, Azevedo LCP, Kellum JA, Damiani LP, Brandão da Silva N, Cavalcanti AB; BaSICS investigators and the BRICNet members. Zampieri FG, et al. JAMA. 2021 Aug 10;326(9):1-12. doi: 10.1001/jama.2021.11684. Online ahead of print. JAMA. 2021. PMID: 34375394 Free PMC article.
Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis.
Armangue T, Spatola M, Vlagea A, Mattozzi S, Cárceles-Cordon M, Martinez-Heras E, Llufriu S, Muchart J, Erro ME, Abraira L, Moris G, Monros-Giménez L, Corral-Corral Í, Montejo C, Toledo M, Bataller L, Secondi G, Ariño H, Martínez-Hernández E, Juan M, Marcos MA, Alsina L, Saiz A, Rosenfeld MR, Graus F, Dalmau J; Spanish Herpes Simplex Encephalitis Study Group. Armangue T, et al. Lancet Neurol. 2018 Sep;17(9):760-772. doi: 10.1016/S1474-4422(18)30244-8. Epub 2018 Jul 23. Lancet Neurol. 2018. PMID: 30049614 Free PMC article.
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Among authors: camacho a. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
A case of hypocholesterolemia under study.
Camacho A, Ariza MJ, Amigó N, Macías Guillén P, Sánchez Chaparro MÁ, Valdivielso P. Camacho A, et al. Clin Investig Arterioscler. 2023 Sep-Oct;35(5):244-247. doi: 10.1016/j.arteri.2023.05.003. Epub 2023 Jun 9. Clin Investig Arterioscler. 2023. PMID: 37302939 Free article. English, Spanish.
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez C, Natera-de Benito D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez-Quereda L. Segarra-Casas A, et al. Among authors: camacho a. J Med Genet. 2023 Jun;60(6):615-619. doi: 10.1136/jmg-2022-108828. Epub 2022 Dec 19. J Med Genet. 2023. PMID: 36535754 Free PMC article.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. Among authors: camacho a. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
Olanzapine-induced myoclonic status.
Camacho A, García-Navarro M, Martínez B, Villarejo A, Pomares E. Camacho A, et al. Clin Neuropharmacol. 2005 May-Jun;28(3):145-7. doi: 10.1097/01.wnf.0000165351.10841.fa. Clin Neuropharmacol. 2005. PMID: 15965316
101 results