PUBLICATIONS
FEATURED PUBLICATIONS
RECENT PUBLICATIONS
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Karimi E, Gohlke J, van der Borgh M, Lindqvist J, Hourani Z, Kolb J, Cossette S, Lawlor MW, Ottenheijm C, Granzier H. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease and mechanisms and omecamtiv mecarbil force effects. Acta Neuropathol. 2024 Apr 18;147(1):72. doi: 10.1007/s00401-024-02726-w. PMID: 38634969
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Chang JC, Ryan MR, Stark MC, Liu S, Purushothaman P, Bolan F, Johnson CA, Champe M, Meng H, Lawlor MW, Halawani S, Ngaba LV, Lynch DR, Davis C, Gonzalo-Gil E, Lutz C, Urbinati F, Medicherla B, Fonck C. AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia. Mol Ther Methods Clin Dev. 2024 Jan 22;32(1):101193. doi: 10.1016/j.omtm.2024.101193. eCollection 2024 Mar 14. PMID: 38352270
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Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016/j.ebiom.2023.104894. Epub 2023 Dec 12. PMID: 380861569
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Molera C, Sarishvili T, Nascimento A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H, Lawlor MW. Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report. J Neuromuscul Dis. 2022;9(1):73-82. doi: 10.3233/JND-210712. PubMed PMID: 34366366; PubMed Central PMCID: PMC8842755.
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Gartz M, Beatka M, Prom MJ, Strande JL, Lawlor MW. Cardiomyocyte-produced miR-339-5p mediates pathology in Duchenne muscular dystrophy cardiomyopathy. Hum Mol Genet. 2021 Nov 16;30(23):2347-2361. doi: 10.1093/hmg/ddab199. PubMed PMID: 34270708; PubMed Central PMCID: PMC8600005.