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Page 1
The Pathogenesis and Therapy of Muscular Dystrophies.
Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. Guiraud S, et al. Among authors: kunkel lm. Annu Rev Genomics Hum Genet. 2015;16:281-308. doi: 10.1146/annurev-genom-090314-025003. Epub 2015 Jun 4. Annu Rev Genomics Hum Genet. 2015. PMID: 26048046 Review.
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. Vieira NM, et al. Among authors: kunkel lm. Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18. Hum Mol Genet. 2014. PMID: 24647604
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.
Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M. Vieira NM, et al. Among authors: kunkel lm. Cell. 2015 Nov 19;163(5):1204-1213. doi: 10.1016/j.cell.2015.10.049. Epub 2015 Nov 12. Cell. 2015. PMID: 26582133 Free PMC article.
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.
Serafini PR, Feyder MJ, Hightower RM, Garcia-Perez D, Vieira NM, Lek A, Gibbs DE, Moukha-Chafiq O, Augelli-Szafran CE, Kawahara G, Widrick JJ, Kunkel LM, Alexander MS. Serafini PR, et al. Among authors: kunkel lm. JCI Insight. 2018 Sep 20;3(18):e120493. doi: 10.1172/jci.insight.120493. eCollection 2018 Sep 20. JCI Insight. 2018. PMID: 30232282 Free PMC article.
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, de la Chapellet A, Kiuru A, Savontaus ML, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gailati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LA, van Paassen MB, van Ommen GJ, Kunkel LM. Koenig M, et al. Among authors: kunkel lm. Am J Hum Genet. 1989 Oct;45(4):498-506. Am J Hum Genet. 1989. PMID: 2491009 Free PMC article.
320 results