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Page 1
Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective.
Johnson NE, Heatwole CR, Dilek N, Sowden J, Kirk CA, Shereff D, Shy ME, Herrmann DN; Inherited Neuropathies Consortium. Johnson NE, et al. Neuromuscul Disord. 2014 Nov;24(11):1018-23. doi: 10.1016/j.nmd.2014.06.433. Epub 2014 Jun 27. Neuromuscul Disord. 2014. PMID: 25092060 Free PMC article.
Prospective study of muscle cramps in Charcot-Marie-tooth disease.
Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, Mcdermott MP, Shy ME, Herrmann DN. Johnson NE, et al. Muscle Nerve. 2015 Apr;51(4):485-8. doi: 10.1002/mus.24333. Epub 2015 Feb 11. Muscle Nerve. 2015. PMID: 25042364 Free PMC article. Clinical Trial.
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Rossor AM, et al. Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14. Brain. 2015. PMID: 25497877 Free PMC article.
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K; Muntoni F, North KN, Reilly MM. Oates EC, et al. Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664120 Free PMC article.