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Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
Riva A, Gambadauro A, Dipasquale V, Casto C, Ceravolo MD, Accogli A, Scala M, Ceravolo G, Iacomino M, Zara F, Striano P, Cuppari C, Di Rosa G, Cutrupi MC, Salpietro V, Chimenz R. Riva A, et al. Among authors: ceravolo g, ceravolo md. Int J Mol Sci. 2021 Apr 25;22(9):4471. doi: 10.3390/ijms22094471. Int J Mol Sci. 2021. PMID: 33922911 Free PMC article.
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.
Casto C, Dipasquale V, Ceravolo I, Gambadauro A, Aliberto E, Galletta K, Granata F, Ceravolo G, Falzia E, Riva A, Piccolo G, Cutrupi MC, Striano P, Accogli A, Zara F, Di Rosa G, Gitto E, Calì E, Efthymiou S, Salpietro V, Houlden H, Chimenz R. Casto C, et al. Among authors: ceravolo i, ceravolo g. Brain Sci. 2021 Aug 29;11(9):1150. doi: 10.3390/brainsci11091150. Brain Sci. 2021. PMID: 34573171 Free PMC article.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Update on leukodystrophies and developing trials.
Ceravolo G, Zhelcheska K, Squadrito V, Pellerin D, Gitto E, Hartley L, Houlden H. Ceravolo G, et al. J Neurol. 2024 Jan;271(1):593-605. doi: 10.1007/s00415-023-11996-5. Epub 2023 Sep 27. J Neurol. 2024. PMID: 37755460 Free PMC article. Review.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: ceravolo g. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
Preterm Patent Ductus Arteriosus: controversies overview.
Warm A, Gasbarro A, Concolino D, Sio A, Ceravolo G, Nicocia G, Ferrarolo C, Cucinotta U, Sestito S, Calabrò MP, Gitto E, Cordaro S. Warm A, et al. Among authors: ceravolo g. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):127-129. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000612 Review. No abstract available.
Dilated cardiomyopathy in mucolipidosis type 2.
Carboni E, Sestito S, Lucente M, Morrone A, Zampini L, Chimenz R, Ceravolo MD, De Sarro R, Ceravolo G, Calabrò MP, Parisi F, Moricca MT, Pensabene L, Musolino D, Concolino D. Carboni E, et al. Among authors: ceravolo g, ceravolo md. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):71-77. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000604
99 results