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19 results

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Page 1
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. Balreira A, et al. Among authors: bansagi b. J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3. J Neurol. 2014. PMID: 25182700 Free PMC article.
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S. Herrmann DN, et al. Among authors: bansagi b. Am J Hum Genet. 2014 Sep 4;95(3):332-9. doi: 10.1016/j.ajhg.2014.08.007. Am J Hum Genet. 2014. PMID: 25192047 Free PMC article.
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H. Whittaker RG, et al. Among authors: bansagi b. Neurology. 2015 Dec 1;85(22):1964-71. doi: 10.1212/WNL.0000000000002185. Epub 2015 Oct 30. Neurology. 2015. PMID: 26519543 Free PMC article.
Genetic heterogeneity of motor neuropathies.
Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Bansagi B, et al. Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1. Neurology. 2017. PMID: 28251916 Free PMC article.
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Boczonadi V, et al. Among authors: bansagi b. Genet Med. 2018 Oct;20(10):1224-1235. doi: 10.1038/gim.2017.251. Epub 2018 Mar 8. Genet Med. 2018. PMID: 29517768 Free PMC article.
Phenotypic convergence of Menkes and Wilson disease.
Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R. Bansagi B, et al. Neurol Genet. 2016 Nov 17;2(6):e119. doi: 10.1212/NXG.0000000000000119. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27878136 Free PMC article.
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