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Orphanet Journal of Rare Diseases|March 12, 2015
New spastic paraplegia phenotype associated to mutation of NFU1Davide Tonduti, Imen Dorboz, Apolline Imbard, et al.Frontiers in Endocrinology|January 2, 2026
Endocrine system disturbances in children with inherited metabolic diseases: a narrative reviewVeronica Maria Tagi, Laura Fiori, Chiara Montanari, et al.International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|May 8, 2026
Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1Ylenia Vaia, Eleonora Mura, Fabio Bruschi, et al.Neurology|November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeRoberta La Piana, Carla Uggetti, Federico Roncarolo, et al.Journal of Human Genetics|March 31, 2021
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutationDavide Tonduti, Eleonora Mura, Silvia Masnada, et al.Molecular Genetics and Metabolism|March 4, 2019
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implicationsDavide Tonduti, Giana Izzo, Stefano D'Arrigo, et al.American Journal of Obstetrics and Gynecology|April 4, 2021
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restrictionBarbara Gardella, Mattia Dominoni, Camilla Caporali, et al.Seizure|February 16, 2021
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findingsValentina De Giorgis, Costanza Varesio, Maurizio Viri, et al.Journal of Child Neurology|March 24, 2011
Spinal cord calcification in an early-onset progressive leukoencephalopathySimona Orcesi, Roberta La Piana, Carla Uggetti, et al.Genes|March 25, 2022
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a ChildMartha Caterina Faraguna, Francesca Musto, Viola Crescitelli, et al.Pageof 11