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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|July 23, 2021
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patientsIlaria Di Donato, Antonio Gallo, Ivana Ricca, et al.Orphanet Journal of Rare Diseases|May 14, 2017
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patientsElena Maria Pennisi, Marcello Arca, Enrico Bertini, et al.Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.Journal of Neurology|February 3, 2019
Muscle pain in mitochondrial diseases: a picture from the Italian networkMassimiliano Filosto, Stefano Cotti Piccinelli, Costanza Lamperti, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 9, 2025
Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)Habibah A P Agianda, Julian E Alecu, Amy Tam, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 2, 2025
Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 CasesDario Resch, Julian E Alecu, Kathryn Yang, et al.Journal of Neurology|July 15, 2019
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variantsFrancesco Nicita, Fabrizia Stregapede, Alessandra Tessa, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 7, 2024
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX StudyAlessandra Scaravilli, Davide Negroni, Claudio Senatore, et al.Nature Cell Biology|November 7, 2018
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesisAlberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|December 29, 2025
Basic Science and PathogenesisEmanuele Panza, Arun Meyyazhagan, Eliseo Picchi, et al.Pageof 20