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Page 1
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Among authors: david e. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
Mixed vascular nevus syndrome: a report of four new cases and a literature review.
Ruggieri M, Polizzi A, Strano S, Schepis C, Morano M, Belfiore G, Palmucci S, Foti PV, Pirrone C, Sofia V, David E, Salpietro V, Mankad K, Milone P. Ruggieri M, et al. Among authors: david e. Quant Imaging Med Surg. 2016 Oct;6(5):515-524. doi: 10.21037/qims.2016.10.09. Quant Imaging Med Surg. 2016. PMID: 27942471 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 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.
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.
Salpietro V, Mankad K, Kinali M, Adams A, Valenzise M, Tortorella G, Gitto E, Polizzi A, Chirico V, Nicita F, David E, Romeo AC, Squeri CA, Savasta S, Marseglia GL, Arrigo T, Johanson CE, Ruggieri M. Salpietro V, et al. Among authors: david e. J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):107-15. doi: 10.1515/jpem-2013-0156. J Pediatr Endocrinol Metab. 2014. PMID: 24025722
What is the role of contrast-enhanced ultrasound in the evaluation of the endoleak of aortic endoprostheses? A comparison between CEUS and CT on a widespread scale.
David E, Cantisani V, Grazhdani H, Di Marzo L, Venturini L, Fanelli F, Di Segni M, Di Leo N, Brunese L, Calliada F, Ciccariello M, Bottari A, Ascenti G, D'Ambrosio F. David E, et al. J Ultrasound. 2016 Nov 23;19(4):281-287. doi: 10.1007/s40477-016-0222-5. eCollection 2016 Dec. J Ultrasound. 2016. PMID: 27965719 Free PMC article.
1,084 results