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Page 1
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C. Garau J, et al. Among authors: de giorgis v, de simone m. J Clin Med. 2019 May 26;8(5):750. doi: 10.3390/jcm8050750. J Clin Med. 2019. PMID: 31130681 Free PMC article.
Blindness affects the developmental trajectory of the sleeping brain.
Vitali H, Campus C, Signorini S, De Giorgis V, Morelli F, Varesio C, Pasca L, Sammartano A, Gori M. Vitali H, et al. Among authors: de giorgis v. Neuroimage. 2024 Feb 1;286:120508. doi: 10.1016/j.neuroimage.2024.120508. Epub 2024 Jan 4. Neuroimage. 2024. PMID: 38181867 Free article.
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, Iascone M, Pezzoli L, Bellazzi R, Perotti G, De Giorgis V, Lunghi S, Coppola G, Orcesi S, Merli P, Savasta S, Veggiotti P, Zuffardi O. Della Mina E, et al. Among authors: de giorgis v. Eur J Hum Genet. 2015 Mar;23(3):354-62. doi: 10.1038/ejhg.2014.92. Epub 2014 May 21. Eur J Hum Genet. 2015. PMID: 24848745 Free PMC article.
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
De Giorgis V, Teutonico F, Cereda C, Balottin U, Bianchi M, Giordano L, Olivotto S, Ragona F, Tagliabue A, Zorzi G, Nardocci N, Veggiotti P. De Giorgis V, et al. Seizure. 2015 Jan;24:28-32. doi: 10.1016/j.seizure.2014.11.009. Epub 2014 Nov 26. Seizure. 2015. PMID: 25564316 Free article.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. Rice GI, et al. Among authors: de goede cgl, de giorgis v, de azua b, de laet c. Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10. Neuropediatrics. 2017. PMID: 28561207 Free PMC article.
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group; Chiapparini L, Garavaglia B, Orcesi S. Tonduti D, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y. Orphanet J Rare Dis. 2018. PMID: 30111349 Free PMC article.
Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome.
De Giorgis V, Masnada S, Varesio C, Chiappedi MA, Zanaboni M, Pasca L, Filippini M, Macasaet JA, Valente M, Ferraris C, Tagliabue A, Veggiotti P. De Giorgis V, et al. Brain Behav. 2019 Mar;9(3):e01224. doi: 10.1002/brb3.1224. Epub 2019 Feb 4. Brain Behav. 2019. PMID: 30714351 Free PMC article.
Developmental Outcomes of Aicardi Goutières Syndrome.
Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A. Adang L, et al. Among authors: de simone m, de giorgis v. J Child Neurol. 2020 Jan;35(1):7-16. doi: 10.1177/0883073819870944. Epub 2019 Sep 27. J Child Neurol. 2020. PMID: 31559893 Free PMC article.
103 results