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Effect of cariporide on ram sperm pH regulation and motility: possible role of NHE1.
Muzzachi S, Guerra L, Martino NA, Favia M, Punzi G, Silvestre F, Guaricci AC, Roscino MT, Pierri CL, Dell'Aquila ME, Casavola V, Lacalandra GM, Ciani E. Muzzachi S, et al. Among authors: punzi g. Reproduction. 2018 May;155(5):433-445. doi: 10.1530/REP-17-0456. Epub 2018 Feb 28. Reproduction. 2018. PMID: 29491124
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL. Edvardson S, et al. Among authors: punzi g. Am J Hum Genet. 2019 Jan 3;104(1):179-185. doi: 10.1016/j.ajhg.2018.11.018. Epub 2018 Dec 27. Am J Hum Genet. 2019. PMID: 30595371 Free PMC article.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S. Fichtman B, et al. Among authors: punzi g. Am J Hum Genet. 2019 Jul 3;105(1):48-64. doi: 10.1016/j.ajhg.2019.05.003. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178128 Free PMC article.
AGC1/2, the mitochondrial aspartate-glutamate carriers.
Amoedo ND, Punzi G, Obre E, Lacombe D, De Grassi A, Pierri CL, Rossignol R. Amoedo ND, et al. Among authors: punzi g. Biochim Biophys Acta. 2016 Oct;1863(10):2394-412. doi: 10.1016/j.bbamcr.2016.04.011. Epub 2016 Apr 28. Biochim Biophys Acta. 2016. PMID: 27132995 Free article. Review.
488 results