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L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C, Fahey M, Menzies L, Baptista J, Carpineta L, Tortora D, Fulcheri E, Gaetano Vellone V, Paladini D, Spaccini L, Toto V, Trayers C, Ben Sira L, Reches A, Malinger G, Salpietro V, De Marco P, Srour M, Zara F, Capra V, Rossi A, Severino M. Accogli A, et al. Among authors: tortora d. Ann Clin Transl Neurol. 2021 Oct;8(10):2004-2012. doi: 10.1002/acn3.51448. Epub 2021 Sep 12. Ann Clin Transl Neurol. 2021. PMID: 34510796 Free PMC article.
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Mirabelli-Badenier M, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M. Mirabelli-Badenier M, et al. Among authors: tortora d. Metab Brain Dis. 2015 Jun;30(3):681-6. doi: 10.1007/s11011-014-9612-6. Epub 2014 Aug 26. Metab Brain Dis. 2015. PMID: 25156245
Diagnostic Approach to Pediatric Spine Disorders.
Rossi A, Martinetti C, Morana G, Severino M, Tortora D. Rossi A, et al. Among authors: tortora d. Magn Reson Imaging Clin N Am. 2016 Aug;24(3):621-44. doi: 10.1016/j.mric.2016.04.001. Magn Reson Imaging Clin N Am. 2016. PMID: 27417404 Review.
146 results