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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN. Clarke NF, et al. Among authors: smith rl. Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278. Hum Mutat. 2010. PMID: 20583297
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN. Clarke NF, et al. Among authors: smith rl. Ann Neurol. 2008 Mar;63(3):329-37. doi: 10.1002/ana.21308. Ann Neurol. 2008. PMID: 18300303
Sickle Trait and Alpha Thalassemia Increase NOS-Dependent Vasodilation of Human Arteries Through Disruption of Endothelial Hemoglobin-eNOS Interactions.
Brooks SD, Ruhl AP, Zeng X, Cruz P, Hassan SA, Kamenyeva O, Hakim MA, Ridley LA, Nagata BM, Kabat J, Ganesan S, Smith RL, Jackson M, Nino de Rivera J, McLure AJ, Jackson JM, Emeh RO, Tesfuzigta N, Laurence K, Joyce S, Yek C, Chea S, Alves DA, Isakson BE, Manning J, Davis JL, Ackerman HC. Brooks SD, et al. Among authors: smith rl. Circulation. 2025 Jan 7;151(1):8-30. doi: 10.1161/CIRCULATIONAHA.123.066003. Epub 2024 Dec 5. Circulation. 2025. PMID: 39633569 Free PMC article.
Midterm survival, clinical, and hemodynamic outcomes of a novel mechanical mitral valve prosthesis.
Ruel M, Chu MWA, Graeve A, Gerdisch MW, Damiano RJ Jr, Smith RL 2nd, Keeling WB, Wait MA, Hagberg RC, Quinn RD, Sethi GK, Floridia R, Barreiro CJ, Pruitt AL, Accola KD, Dagenais F, Markowitz AH, Ye J, Sekela ME, Tsuda RY, Duncan DA, Swistel DG, Harville LE, DeRose JJ, Lehr EJ, Alexander JH, Puskas JD; PROACT Mitral Investigators. Ruel M, et al. Among authors: smith rl 2nd. J Thorac Cardiovasc Surg. 2024 Nov 29:S0022-5223(24)01110-3. doi: 10.1016/j.jtcvs.2024.11.029. Online ahead of print. J Thorac Cardiovasc Surg. 2024. PMID: 39617318
1,641 results