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Page 1
Correlation of clinical and molecular features in spinal bulbar muscular atrophy.
Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG. Fratta P, et al. Among authors: skorupinska i. Neurology. 2014 Jun 10;82(23):2077-84. doi: 10.1212/WNL.0000000000000507. Epub 2014 May 9. Neurology. 2014. PMID: 24814851 Free PMC article.
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.
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.
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.
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Vivekanandam V, Männikkö R, Skorupinska I, Germain L, Gray B, Wedderburn S, Kozyra D, Sud R, James N, Holmes S, Savvatis K, Fialho D, Merve A, Pattni J, Farrugia M, Behr ER, Marini-Bettolo C, Hanna MG, Matthews E. Vivekanandam V, et al. Among authors: skorupinska i. Brain. 2022 Jun 30;145(6):2108-2120. doi: 10.1093/brain/awab445. Brain. 2022. PMID: 34919635
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.
The long exercise test as a functional marker of periodic paralysis.
Ribeiro A, Suetterlin KJ, Skorupinska I, Tan SV, Morrow JM, Matthews E, Hanna MG, Fialho D. Ribeiro A, et al. Among authors: skorupinska i. Muscle Nerve. 2022 May;65(5):581-585. doi: 10.1002/mus.27465. Epub 2021 Dec 6. Muscle Nerve. 2022. PMID: 34817893 Free PMC article.
Investigation of the psychometric properties of the inclusion body myositis functional rating scale with rasch analysis.
Ramdharry G, Morrow J, Hudgens S, Skorupinska I, Gwathmey K, Currence M, Herbelin L, Jawdat O, Pasnoor M, Mcvey A, Barohn RJ, Burns TM, Dimachkie MM, Amato AA, Hanna MG, Machado PM. Ramdharry G, et al. Among authors: skorupinska i. Muscle Nerve. 2019 Aug;60(2):161-168. doi: 10.1002/mus.26521. Epub 2019 Jun 7. Muscle Nerve. 2019. PMID: 31107564
25 results