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Page 1
Trisomy 16p: a longitudinal profile and photo essay.
Sommer A, Pastore M, Wenger G. Sommer A, et al. Among authors: pastore m. Am J Med Genet A. 2006 Jan 15;140(2):174-9. doi: 10.1002/ajmg.a.31027. Am J Med Genet A. 2006. PMID: 16353251
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Lalani SR, et al. Among authors: pastore m. Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16. Am J Hum Genet. 2014. PMID: 25439098 Free PMC article.
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN. Luo X, et al. Among authors: pastore mt. PLoS Genet. 2017 Jul 24;13(7):e1006905. doi: 10.1371/journal.pgen.1006905. eCollection 2017 Jul. PLoS Genet. 2017. PMID: 28742085 Free PMC article.
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MR. Shayota BJ, et al. Among authors: pastore mt. Mol Genet Genomic Med. 2019 Dec;7(12):e973. doi: 10.1002/mgg3.973. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568715 Free PMC article.
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, Podell M, Burghes AH. Monani UR, et al. Among authors: pastore mt. J Cell Biol. 2003 Jan 6;160(1):41-52. doi: 10.1083/jcb.200208079. Epub 2003 Jan 6. J Cell Biol. 2003. PMID: 12515823 Free PMC article.
554 results