Below are the most recent publications written about "Charcot-Marie-Tooth Disease" by people in Profiles.
-
Mahmoud M, Doddapaneni H, Timp W, Sedlazeck FJ. PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
-
Hamedani AG, Wilson JA, Avery RA, Scherer SS. Optic Neuropathy in Charcot-Marie-Tooth Disease. J Neuroophthalmol. 2021 06 01; 41(2):233-238.
-
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain. 2020 12 01; 143(12):3589-3602.
-
Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L. GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. Am J Med Genet A. 2020 05; 182(5):1167-1176.
-
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 03 03; 94(9):e884-e896.
-
Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 12 02; 129(12):5568-5583.
-
Lee DC, Dankwa L, Edmundson C, Cornblath DR, Scherer SS. Yield of next-generation neuropathy gene panels in axonal neuropathies. J Peripher Nerv Syst. 2019 12; 24(4):324-329.
-
Serfecz J, Bazick H, Al Salihi MO, Turner P, Fields C, Cruz P, Renne R, Notterpek L. Downregulation of the human peripheral myelin protein 22 gene by miR-29a in cellular models of Charcot-Marie-Tooth disease. Gene Ther. 2019 12; 26(12):455-464.
-
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Ann Neurol. 2019 07; 86(1):55-67.
-
Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. POLG mutations presenting as Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019 06; 24(2):213-218.