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Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Pizzamiglio C, Pitceathly RDS, Lunn MP, Brady S, De Marchi F, Galan L, Heckmann JM, Horga A, Molnar MJ, Oliveira ASB, Pinto WBVR, Primiano G, Santos E, Schoser B, Servidei S, Sgobbi Souza PV, Venugopalan V, Hanna MG, Dimachkie MM, Machado PM; Neuromuscular Diseases and COVID-19 Study Group. Pizzamiglio C, et al. Among authors: horga a. Eur J Neurol. 2023 Feb;30(2):399-412. doi: 10.1111/ene.15613. Epub 2022 Nov 18. Eur J Neurol. 2023. PMID: 36303290 Free PMC article.
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. Horga A, et al. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14. Neurology. 2016. PMID: 27629094 Free PMC article. Review.
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM. Tomaselli PJ, et al. Among authors: horga a. Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10. Neurology. 2017. PMID: 28283593 Free PMC article.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Horga A, et al. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13. J Neurol Neurosurg Psychiatry. 2017. PMID: 28501821 Free PMC article.
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Among authors: horga a. Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28508084 Free PMC article.
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H. Manole A, et al. Among authors: horga a. Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231. Brain. 2017. PMID: 29053833 Free PMC article.
66 results