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Page 1
Vestibular dysfunction: a frequent problem for adults with mitochondrial disease.
Holmes S, Male AJ, Ramdharry G, Woodward C, James N, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Bugiardini E, Poole OV, Quinlivan R, Hanna MG, Kaski D, Pitceathly RDS. Holmes S, et al. Among authors: skorupinska m, skorupinska i. J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):838-841. doi: 10.1136/jnnp-2018-319267. Epub 2018 Nov 26. J Neurol Neurosurg Psychiatry. 2019. PMID: 30478136 Free PMC article. No abstract available.
An observational study of asymmetry in CMT1A.
Pelayo-Negro AL, Carr AS, Laura M, Skorupinska M, Reilly MM. Pelayo-Negro AL, et al. Among authors: skorupinska m. J Neurol Neurosurg Psychiatry. 2015 May;86(5):589-90. doi: 10.1136/jnnp-2014-309096. Epub 2014 Oct 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25313262 Free PMC article. No abstract available.
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.
Laurá M, Singh D, Ramdharry G, Morrow J, Skorupinska M, Pareyson D, Burns J, Lewis RA, Scherer SS, Herrmann DN, Cullen N, Bradish C, Gaiani L, Martinelli N, Gibbons P, Pfeffer G, Phisitkul P, Wapner K, Sanders J, Flemister S, Shy ME, Reilly MM; Inherited Neuropathies Consortium. Laurá M, et al. Among authors: skorupinska m. Muscle Nerve. 2018 Feb;57(2):255-259. doi: 10.1002/mus.25724. Epub 2017 Jul 7. Muscle Nerve. 2018. PMID: 28632967 Free PMC article.
Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity.
Wallace A, Pietrusz A, Dewar E, Dudziec M, Jones K, Hennis P, Sterr A, Baio G, Machado PM, Laurá M, Skorupinska I, Skorupinska M, Butcher K, Trenell M, Reilly MM, Hanna MG, Ramdharry GM. Wallace A, et al. Among authors: skorupinska m, skorupinska i. Neurology. 2019 Apr 9;92(15):e1773-e1785. doi: 10.1212/WNL.0000000000007265. Epub 2019 Mar 8. Neurology. 2019. PMID: 30850441 Free PMC article. Clinical Trial.
Urogenital symptoms in mitochondrial disease: overlooked and undertreated.
Poole OV, Uchiyama T, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Holmes S, James N, Bugiardini E, Woodward C, Quinlivan R, Emmanuel A, Hanna MG, Panicker JN, Pitceathly RDS. Poole OV, et al. Among authors: skorupinska m, skorupinska i. Eur J Neurol. 2019 Aug;26(8):1111-1120. doi: 10.1111/ene.13952. Epub 2019 Apr 30. Eur J Neurol. 2019. PMID: 30884027 Free PMC article.
Primary mitochondrial diseases increase susceptibility to bipolar affective disorder.
Colasanti A, Bugiardini E, Amawi S, Poole OV, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Holmes S, James N, Woodward CE, Quinlivan R, Young AH, Hanna MG, Pitceathly RDS. Colasanti A, et al. Among authors: skorupinska m, skorupinska i. J Neurol Neurosurg Psychiatry. 2020 Aug;91(8):892-894. doi: 10.1136/jnnp-2020-323632. Epub 2020 Jun 11. J Neurol Neurosurg Psychiatry. 2020. PMID: 32527838 No abstract available.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM. Pipis M, et al. Among authors: skorupinska m. J Neurol Neurosurg Psychiatry. 2022 Jan;93(1):48-56. doi: 10.1136/jnnp-2021-327186. Epub 2021 Sep 13. J Neurol Neurosurg Psychiatry. 2022. PMID: 34518334 Free PMC article.
Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy.
O'Donnell LF, Cortese A, Rossor AM, Laura M, Blake J, Skorupinska M, Lunn MP, Thornton JS, Currò R, Morrow JM, Reilly MM. O'Donnell LF, et al. Among authors: skorupinska m. J Neurol Neurosurg Psychiatry. 2022 Jul 22:jnnp-2022-329432. doi: 10.1136/jnnp-2022-329432. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35868853 No abstract available.
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. 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.
41 results