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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Olsen RKJ, et al. Among authors: pegoraro e. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006. Am J Hum Genet. 2016. PMID: 27259049 Free PMC article.
Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient.
Gianazza E, Vergani L, Wait R, Brizio C, Brambilla D, Begum S, Giancaspero TA, Conserva F, Eberini I, Bufano D, Angelini C, Pegoraro E, Tramontano A, Barile M. Gianazza E, et al. Among authors: pegoraro e. Electrophoresis. 2006 Mar;27(5-6):1182-98. doi: 10.1002/elps.200500687. Electrophoresis. 2006. PMID: 16470778
Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy.
Malena A, Pennuto M, Tezze C, Querin G, D'Ascenzo C, Silani V, Cenacchi G, Scaramozza A, Romito S, Morandi L, Pegoraro E, Russell AP, Sorarù G, Vergani L. Malena A, et al. Among authors: pegoraro e. Acta Neuropathol. 2013 Jul;126(1):109-21. doi: 10.1007/s00401-013-1122-9. Epub 2013 May 4. Acta Neuropathol. 2013. PMID: 23644820
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.
Botta A, Visconti VV, Fontana L, Bisceglia P, Bengala M, Massa R, Bagni I, Cardani R, Sangiuolo F, Meola G, Antonini G, Petrucci A, Pegoraro E, D'Apice MR, Novelli G. Botta A, et al. Among authors: pegoraro e. Front Genet. 2021 Jun 21;12:668094. doi: 10.3389/fgene.2021.668094. eCollection 2021. Front Genet. 2021. PMID: 34234810 Free PMC article.
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.
Pegoraro E, Cepollaro F, Prandini P, Marin A, Fanin M, Trevisan CP, El-Messlemani AH, Tarone G, Engvall E, Hoffman EP, Angelini C. Pegoraro E, et al. Am J Pathol. 2002 Jun;160(6):2135-43. doi: 10.1016/s0002-9440(10)61162-5. Am J Pathol. 2002. PMID: 12057917 Free PMC article.
337 results