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Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: loizzo al. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.
Autism and metabolic diseases.
Manzi B, Loizzo AL, Giana G, Curatolo P. Manzi B, et al. Among authors: loizzo al. J Child Neurol. 2008 Mar;23(3):307-14. doi: 10.1177/0883073807308698. Epub 2007 Dec 13. J Child Neurol. 2008. PMID: 18079313 Review.
ALTEA: anomalous long term effects in astronauts. A probe on the influence of cosmic radiation and microgravity on the central nervous system during long flights.
Narici L, Bidoli V, Casolino M, De Pascale MP, Furano G, Morselli A, Picozza P, Reali E, Sparvoli R, Licoccia S, Romagnoli P, Traversa E, Sannita WG, Loizzo A, Galper A, Khodarovich A, Korotkov MG, Popov A, Vavilov N, Avdeev S, Salnitskii VP, Shevchenko OI, Petrov VP, Trukhanov KA, Boezio M, Bonvicini W, Vacchi A, Zampa N, Battiston R, Mazzenga G, Ricci M, Spillantini P, Castellini G, Carlson P, Fuglesang C. Narici L, et al. Adv Space Res. 2003;31(1):141-6. doi: 10.1016/s0273-1177(02)00881-5. Adv Space Res. 2003. PMID: 12577991
The ALTEA facility on the International Space Station.
Narici L, Bidoli V, Casolino M, De Pascale MP, Furano G, Modena I, Morselli A, Picozza P, Reali E, Sparvoli R, Licoccia S, Romagnoli P, Traversa E, Sannita WG, Loizzo A, Galper A, Khodarovich A, Korotkov MG, Popov A, Vavilov N, Avdeev S, Salnitskii VP, Shevchenko OI, Petrov VP, Trukhanov KA, Boezio M, Bonvicini W, Vacchi A, Zampa N, Battiston R, Mazzenga G, Ricci M, Spillantini P, Castellini G, Carlson P, Fuglesang C. Narici L, et al. Phys Med. 2001;17 Suppl 1:255-7. Phys Med. 2001. PMID: 11776990