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Journal of Neurology|December 4, 2025
Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegiaFederica Novarella, Alessandra Tessa, Chiara Criscuolo, et al.Journal of Functional Morphology and Kinesiology|July 25, 2024
Convolutional Neural Network-Based Automated Segmentation of Skeletal Muscle and Subcutaneous Adipose Tissue on Thigh MRI in Muscular Dystrophy PatientsGiacomo Aringhieri, Guja Astrea, Daniela Marfisi, et al.Nutrients|November 27, 2019
The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB ActivationSara Carpi, Egeria Scoditti, Marika Massaro, et al.Parkinsonism & Related Disorders|October 18, 2019
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature reviewSerena Galosi, Emanuele Barca, Rosalba Carrozzo, et al.Frontiers in Genetics|September 5, 2024
Severe mitochondrial encephalomyopathy caused by <i>de novo</i> variants in <i>OPA1</i> geneMichela Di Nottia, Teresa Rizza, Enrico Baruffini, et al.European Journal of Neurology|April 17, 2025
An Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX StudyAlessandra Scaravilli, Gaia Mari, Ilaria Gabusi, et al.Journal of Neurology|June 16, 2024
An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX studyAlessandra Scaravilli, Ilaria Gabusi, Gaia Mari, et al.International Journal of Molecular Sciences|May 27, 2023
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy PhenotypesEmanuele Monda, Michele Lioncino, Martina Caiazza, et al.Neuromuscular Disorders : NMD|March 28, 2016
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriersMarco Savarese, Olimpia Musumeci, Teresa Giugliano, et al.Journal of Neurology|November 1, 2014
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutationsCecilia Mancini, Stefano Nassani, Yiran Guo, et al.Pageof 20