Below are the most recent publications written about "Pelizaeus-Merzbacher Disease" by people in Profiles.
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Moore KM, Wolf NI, Hobson G, Bowyer K, McSherry J, Hartin G, Wilde C, Shapiro S, Frank J, Manley D, Junge C. Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact. J Child Neurol. 2023 02; 38(1-2):78-84.
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Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. Am J Med Genet A. 2020 08; 182(8):1906-1912.
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Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM. Auditory function in Pelizaeus-Merzbacher disease. J Neurol. 2018 Jul; 265(7):1580-1589.
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Nevin ZS, Factor DC, Karl RT, Douvaras P, Laukka J, Windrem MS, Goldman SA, Fossati V, Hobson GM, Tesar PJ. Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes. Am J Hum Genet. 2017 Apr 06; 100(4):617-634.
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Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet. 2015 Mar; 11(3):e1005050.
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Taube JR, Sperle K, Banser L, Seeman P, Cavan BC, Garbern JY, Hobson GM. PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. Hum Mol Genet. 2014 Oct 15; 23(20):5464-78.
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Laukka JJ, Stanley JA, Garbern JY, Trepanier A, Hobson G, Lafleur T, Gow A, Kamholz J. Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease. J Neurol Sci. 2013 Dec 15; 335(1-2):75-81.
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Clark K, Sakowski L, Sperle K, Banser L, Landel CP, Bessert DA, Skoff RP, Hobson GM. Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication. J Neurosci. 2013 Jul 17; 33(29):11788-99.
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Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat. 2013 Aug; 34(8):1160-71.
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Hobson GM, Garbern JY. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Semin Neurol. 2012 Feb; 32(1):62-7.