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Year Number of Results
1976 1
2006 2
2007 2
2008 2
2009 6
2010 9
2011 4
2012 2
2013 3
2014 4
2015 1
2016 3
2017 6
2018 1
2019 2
2020 9
2021 6
2022 4
2023 5
2024 3

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65 results

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Page 1
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: horga a. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: horga a. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T; patisiran Global OLE study group. Adams D, et al. Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16. Lancet Neurol. 2021. PMID: 33212063 Clinical Trial.
A Phase 2 Randomized Trial Evaluating the Antiviral Activity and Safety of the Direct-Acting Antiviral Bemnifosbuvir in Ambulatory Patients with Mild or Moderate COVID-19 (MOONSONG Study).
Boffito M, Dolan E, Singh K, Holmes W, Wildum S, Horga A, Pietropaolo K, Zhou XJ, Clinch B, Collinson N, Ukachukwu V. Boffito M, et al. Among authors: horga a. Microbiol Spectr. 2023 Aug 17;11(4):e0007723. doi: 10.1128/spectrum.00077-23. Epub 2023 Jun 20. Microbiol Spectr. 2023. PMID: 37338393 Free PMC article. Clinical Trial.
Nivolumab: An «Immune storm» in a patient with history of myasthenia gravis.
Montalvo Moraleda T, Horga A, Galán Dávila L, Guerrero Sola A, Silva Hernández L. Montalvo Moraleda T, et al. Among authors: horga a. Neurologia (Engl Ed). 2020 Nov-Dec;35(9):692-694. doi: 10.1016/j.nrl.2019.11.007. Epub 2020 Jan 28. Neurologia (Engl Ed). 2020. PMID: 32005531 Free article. English, Spanish. No abstract available.
Natalizumab for relapsing-remitting multiple sclerosis.
Horga A, Tintoré M. Horga A, et al. Neurologia. 2011 Jul-Aug;26(6):357-68. doi: 10.1016/j.nrl.2010.10.004. Epub 2010 Dec 28. Neurologia. 2011. PMID: 21193250 Free article. Review. English, Spanish.
Post-COVID symptoms of potential peripheral nervous and muscular origin.
Silva-Hernández L, Cabal-Paz B, Mayo-Canalejo D, Horga A. Silva-Hernández L, et al. Among authors: horga a. Neurol Perspect. 2021 Dec;1:S25-S30. doi: 10.1016/j.neurop.2021.11.002. Epub 2021 Dec 14. Neurol Perspect. 2021. PMID: 38620983 Free PMC article. Review.
65 results