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Molecular Genetics and Metabolism|February 4, 2014
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patientsMichela Catteruccia, Daniela Verrigni, Diego Martinelli, et al.European Radiology|May 20, 2022
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseasesMirco Cosottini, Graziella Donatelli, Ivana Ricca, et al.Orphanet Journal of Rare Diseases|February 5, 2013
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in ItalyFilippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, et al.Journal of Neurology|November 20, 2009
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxiaPia Irene Anna Rossi, Carlotta Maria Vaccari, Alessandra Terracciano, et al.European Journal of Human Genetics : EJHG|January 14, 2010
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1HLuigi Bisceglia, Stefano Zoccolella, Alessandra Torraco, et al.Movement Disorders Clinical Practice|May 29, 2025
Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic ParalysisUmar Zubair, Nicole Battaglia, Julian E Alecu, et al.Journal of Neurology|June 1, 2011
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRIMaria Laura Stromillo, Alessandro Malandrini, Maria Teresa Dotti, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 17, 2018
Italian recommendations for diagnosis and management of congenital myasthenic syndromesLorenzo Maggi, Pia Bernasconi, Adele D'Amico, et al.Journal of Medical Genetics|November 21, 2023
Familial Alzheimer's disease associated with heterozygous <i>NPC1</i> mutationDiego Lopergolo, Silvia Bianchi, Gian Nicola Gallus, et al.Biomolecules|July 29, 2023
Tanshinone IIA and Cryptotanshinone Counteract Inflammation by Regulating Gene and miRNA Expression in Human SGBS AdipocytesSara Carpi, Stefano Quarta, Stefano Doccini, et al.Pageof 20