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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
A pilot study of proximal strength training in Charcot-Marie-Tooth disease.
Ramdharry GM, Pollard A, Anderson C, Laurá M, Murphy SM, Dudziec M, Dewar EL, Hutton E, Grant R, Reilly MM. Ramdharry GM, et al. Among authors: dudziec m. J Peripher Nerv Syst. 2014 Dec;19(4):328-32. doi: 10.1111/jns.12100. J Peripher Nerv Syst. 2014. PMID: 25582960 Clinical Trial.
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: dudziec m. 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.
Randomised feasibility study of physiotherapy for patients with functional motor symptoms.
Nielsen G, Buszewicz M, Stevenson F, Hunter R, Holt K, Dudziec M, Ricciardi L, Marsden J, Joyce E, Edwards MJ. Nielsen G, et al. Among authors: dudziec m. J Neurol Neurosurg Psychiatry. 2017 Jun;88(6):484-490. doi: 10.1136/jnnp-2016-314408. Epub 2016 Sep 30. J Neurol Neurosurg Psychiatry. 2017. PMID: 27694498 Clinical Trial.