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Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.
Coratti G, Pane M, Brogna C, D'Amico A, Pegoraro E, Bello L, Sansone VA, Albamonte E, Ferraroli E, Mazzone ES, Fanelli L, Messina S, Sframeli M, Catteruccia M, Cicala G, Capasso A, Ricci M, Frosini S, De Luca G, Rolle E, De Sanctis R, Forcina N, Norcia G, Passamano L, Scutifero M, Gardani A, Pini A, Monaco G, D'Angelo MG, Leone D, Zanin R, Vita GL, Panicucci C, Bruno C, Mongini T, Ricci F, Berardinelli A, Battini R, Masson R, Baranello G, Dosi C, Bertini E, Nigro V, Politano L, Mercuri E. Coratti G, et al. Among authors: nigro v. Neuromuscul Disord. 2024 Jan;34:75-82. doi: 10.1016/j.nmd.2023.11.011. Epub 2023 Dec 3. Neuromuscul Disord. 2024. PMID: 38157655 Free article.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Sarcomere level mechanics of the fast skeletal muscle of the medaka fish larva.
Marcello M, Cetrangolo V, Morotti I, Squarci C, Caremani M, Reconditi M, Savarese M, Bianco P, Piazzesi G, Lombardi V, Udd B, Conte I, Nigro V, Linari M. Marcello M, et al. Among authors: nigro v. Am J Physiol Cell Physiol. 2024 Feb 1;326(2):C632-C644. doi: 10.1152/ajpcell.00530.2023. Epub 2023 Dec 25. Am J Physiol Cell Physiol. 2024. PMID: 38145303
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: nigro v. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: nigro v. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Accogli A, et al. Among authors: nigro v. Genet Med. 2024 May;26(5):101097. doi: 10.1016/j.gim.2024.101097. Epub 2024 Feb 5. Genet Med. 2024. PMID: 38334070 Free article.
323 results