PUBLICATIONS
FEATURED PUBLICATIONS
RECENT PUBLICATIONS
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Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. PMID: 37977713
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Karolczak S, Deshwar AR, Aristegui E, Kamath BM, Lawlor MW, Andreoletti G, Volpatti J, Ellis JL, Yin C, Dowling JJ. Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy J Clin Invest. 2023 Sep 15; 133(18):e166275. doi: 10.1172/JCI166275. PMID: 37490339
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Slick RA, Tinklenberg JA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Granzier H, Geurts AM, Stowe DF, Hill RB, Lawlor MW. Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy Am J Pathol. 2023 Oct;193(10):1548-1567. doi: 10.1016/j.ajpath.2023.06.008. Epub 2023 Jul 5. PMID: 37419385
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Tinklenberg JA, Slick RA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Hardeman EC, Geurts AM, Stowe DF, Hill RB, Lawlor MW. Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. Am J Pathol. 2023 Oct;193(10):1528-1547. doi: 10.1016/j.ajpath.2023.06.009. Epub 2023 Jul 6. PMID: 37422147
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Gartz M, Haberman M, Sutton J, Slick RA, Luttrell SM, Mack DL, Lawlor MW. ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy. Exp Cell Res. 2023 Mar 15;424(2):113507. doi: 10.1016/j.yexcr.2023.113507. Epub 2023 Feb 14. PMID: 36796746
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Chen X, Lim DA, Lawlor MW, Dimmock D, Vite C, Lester T, Tavakkoli F, Sadhu C, Prasad S, Gray SJ. Biodistribution of adeno-associated virus gene therapy following CSF-directed administration. Hum Gene Ther. 2023 Jan 6. doi: 10.1089/hum.2022.163. PMID: 36606687
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Birch SM, Lawlor MW, Conlon TJ, Guo LJ, Crudele JM, Hawkins EC, Nghiem PP, Ahn M, Meng H, Beatka MJ, Fickau BA, Prieto JC, Styner MA, Struharik MJ, Shanks C, Brown KJ, Golebiowski D, Bettis AK, Balog-Alvarez CJ, Clement N, Coleman KE, Corti M, Pan X, Hauschka SD, Gonzalez JP, Morris CA, Schneider JS, Duan D, Chamberlain JS, Byrne BJ, Kornegay JN. Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophy. Sci Transl Med. 2023 Jan 4;15(677):eabo1815. doi: 10.1126/scitranslmed.abo1815. Epub 2023 Jan 4.PMID: 36599002
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Boehler JF, Brown KJ, Beatka M, Gonzalez JP, Donisa Dreghici R, Soustek-Kramer M, McGonigle S, Ganot A, Palmer T, Lowie C, Chamberlain JS, Lawlor MW, Morris CA. Clinical potential of microdystrophin as a surrogate endpoint. Neuromuscul Disord. 2022 Dec 14;S0960-8966(22)00731-3. doi: 10.1016/j.nmd.2022.12.007. PubMed PMID: 36575103.
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Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, Lee J, Coats J, Lilien C, Lowes LP, MacBean V, Neuhaus S, Noursalehi M, Pitts T, Finlay C, Christensen S, Rafferty G, Seferian AM, Tsuchiya E, James ES, Miller W, Sepulveda B, Vila MC, Prasad S, Rico S, Shieh PB; INCEPTUS investigators.. INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2022;9(4):503-516. doi: 10.3233/JND-210781. PubMed PMID: 35694931.
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Eggers M, Vannoy CH, Huang J, Purushothaman P, Brassard J, Fonck C, Meng H, Prom MJ, Lawlor MW, Cunningham J, Sadhu C, Mavilio F. Muscle-directed gene therapy corrects Pompe disease and uncovers species-specific GAA immunogenicity. EMBO Mol Med. 2022 Jan 11;14(1):e13968. doi: 10.15252/emmm.202113968. Epub 2021 Dec 1. PubMed PMID: 34850579; PubMed Central PMCID: PMC8749482.
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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, Haberman M, Prom MJ, Beatka MJ, Strande JL, Lawlor MW. A Long-Term Study Evaluating the Effects of Nicorandil Treatment on Duchenne Muscular Dystrophy-Associated Cardiomyopathy in mdx Mice. J Cardiovasc Pharmacol Ther. 2022 Jan-Dec;27:10742484221088655. doi: 10.1177/10742484221088655. PubMed PMID: 35353647.
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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.
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Lawlor MW, Dowling JJ. X-linked myotubular myopathy. Neuromuscul Disord. 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003. Review. PubMed PMID: 34736623.
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Sullivan RT, Lam NT, Haberman M, Beatka MJ, Afzal MZ, Lawlor MW, Strande JL. Cardioprotective effect of nicorandil on isoproterenol induced cardiomyopathy in the Mdx mouse model. BMC Cardiovasc Disord. 2021 Jun 15;21(1):302. doi: 10.1186/s12872-021-02112-4. PubMed PMID: 34130633; PubMed Central PMCID: PMC8207777.
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Hamm SE, Fathalikhani DD, Bukovec KE, Addington AK, Zhang H, Perry JB, McMillan RP, Lawlor MW, Prom MJ, Vanden Avond MA, Kumar SN, Coleman KE, Dupont JB, Mack DL, Brown DA, Morris CA, Gonzalez JP, Grange RW. Voluntary wheel running complements microdystrophin gene therapy to improve muscle function in mdx mice. Mol Ther Methods Clin Dev. 2021 Jun 11;21:144-160. doi: 10.1016/j.omtm.2021.02.024. eCollection 2021 Jun 11. PubMed PMID: 33850950; PubMed Central PMCID: PMC8020351.
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Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021 Mar 9;96(10):e1425-e1436. doi: 10.1212/WNL.0000000000011458. Epub 2021 Jan 4. PubMed PMID: 33397769; PubMed Central PMCID: PMC8055318.