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Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Doherty CM, Howard P, O'Donnell LF, Zuccarino R, Wastling S, Milev E, Banks T, Shah S, Zafeiropoulos N, Stephens KJ, Sarkozy A, Grider T, Feely SME, Manzur A, Shy RR, Skorupinska M, Pipis M, Nicolaisen E, McDowell A, Dilek N, Rossor AM, Laura M, Clark C, Muntoni F, Thedens D, Thornton J, Morrow JM, Shy ME, Reilly MM. Doherty CM, et al. Among authors: laura m. Ann Neurol. 2024 Apr 13. doi: 10.1002/ana.26934. Online ahead of print. Ann Neurol. 2024. PMID: 38613459
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.
Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D; CMT-TRIAAL/CMT-TRAUK Group; Young P, Laurà M, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW. Mannil M, et al. Among authors: laura m. Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 2014 Jun 19. Neuromuscul Disord. 2014. PMID: 25085517 Clinical Trial.
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: laura 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.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Among authors: laura m. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 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: laura 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.
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
Carr AS, Polke JM, Wilson J, Pelayo-Negro AL, Laura M, Nanji T, Holt J, Vaughan J, Rankin J, Sweeney MG, Blake J, Houlden H, Reilly MM. Carr AS, et al. Among authors: laura m. J Peripher Nerv Syst. 2015 Jun;20(2):67-71. doi: 10.1111/jns.12117. J Peripher Nerv Syst. 2015. PMID: 26114802
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Sanmaneechai O, et al. Among authors: laura m. Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25. Brain. 2015. PMID: 26310628 Free PMC article.
185 results