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Pompe disease gene therapy.
Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, Collins SW, Conlon TJ, Clement N, Cleaver BD, Cloutier DA, Porvasnik SL, Islam S, Elmallah MK, Martin A, Smith BK, Fuller DD, Lawson LA, Mah CS. Byrne BJ, et al. Among authors: martin a. Hum Mol Genet. 2011 Apr 15;20(R1):R61-8. doi: 10.1093/hmg/ddr174. Epub 2011 Apr 25. Hum Mol Genet. 2011. PMID: 21518733 Free PMC article. Review.
Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.
Smith BK, Collins SW, Conlon TJ, Mah CS, Lawson LA, Martin AD, Fuller DD, Cleaver BD, Clément N, Phillips D, Islam S, Dobjia N, Byrne BJ. Smith BK, et al. Hum Gene Ther. 2013 Jun;24(6):630-40. doi: 10.1089/hum.2012.250. Hum Gene Ther. 2013. PMID: 23570273 Free PMC article. Clinical Trial.
A harmonized public resource of deeply sequenced diverse human genomes.
Koenig Z, Yohannes MT, Nkambule LL, Zhao X, Goodrich JK, Kim HA, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Walker MA, Lyu Y; gnomAD Project Consortium; Rehm H, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: martin ar. Genome Res. 2024 May 15:gr.278378.123. doi: 10.1101/gr.278378.123. Online ahead of print. Genome Res. 2024. PMID: 38749656
Body size interacts with the structure of the central nervous system: A multi-center in vivo neuroimaging study.
Labounek R, Bondy MT, Paulson AL, Bédard S, Abramovic M, Alonso-Ortiz E, Atcheson NT, Barlow LR, Barry RL, Barth M, Battiston M, Büchel C, Budde MD, Callot V, Combes A, Leener B, Descoteaux M, Loureiro de Sousa P, Dostál M, Doyon J, Dvorak AV, Eippert F, Epperson KR, Epperson KS, Freund P, Finsterbusch J, Foias A, Fratini M, Fukunaga I, Gandini Wheeler-Kingshott CAM, Germani G, Gilbert G, Giove F, Grussu F, Hagiwara A, Henry PG, Horák T, Hori M, Joers JM, Kamiya K, Karbasforoushan H, Keřkovský M, Khatibi A, Kim JW, Kinany N, Kitzler H, Kolind S, Kong Y, Kudlička P, Kuntke P, Kurniawan ND, Kusmia S, Laganà MM, Laule C, Law CSW, Leutritz T, Liu Y, Llufriu S, Mackey S, Martin AR, Martinez-Heras E, Mattera L, O'Grady KP, Papinutto N, Papp D, Pareto D, Parrish TB, Pichiecchio A, Prados F, Rovira À, Ruitenberg MJ, Samson RS, Savini G, Seif M, Seifert AC, Smith AK, Smith SA, Smith ZA, Solana E, Suzuki Y, Tackley GW, Tinnermann A, Valošek J, Van De Ville D, Yiannakas MC, Weber KA, Weiskopf N, Wise RG, Wyss PO, Xu J, Cohen-Adad J, Lenglet C, Nestrašil I. Labounek R, et al. Among authors: martin ar. bioRxiv [Preprint]. 2024 May 1:2024.04.29.591421. doi: 10.1101/2024.04.29.591421. bioRxiv. 2024. PMID: 38746371 Free PMC article. Preprint.
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