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Journal of Clinical Medicine|April 3, 2021
Partial Lipodystrophy and LMNA p.R545H VariantSilvia Magno, Giovanni Ceccarini, Andrea Barison, et al.Neurogenetics|February 10, 2018
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature reviewFrancesco Mari, Beatrice Berti, Alessandro Romano, et al.Human Molecular Genetics|March 5, 2015
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathyClaudia Nesti, Maria Chiara Meschini, Brigitte Meunier, et al.Journal of Neurology|March 11, 2021
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ<sub>10</sub> deficiency in muscle or skin fibroblastsSerena Mero, Leonardo Salviati, Vincenzo Leuzzi, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 29, 2017
Novel POLG mutations and variable clinical phenotypes in 13 Italian patientsPaola Da Pozzo, Elena Cardaioli, Anna Rubegni, et al.Orphanet Journal of Rare Diseases|October 10, 2021
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseasesAnna Ardissone, Claudio Bruno, Daria Diodato, et al.Muscle & Nerve|August 9, 2021
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1Chiara Ticci, Denise Cassandrini, Anna Rubegni, 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|February 3, 2019
Muscle pain in mitochondrial diseases: a picture from the Italian networkMassimiliano Filosto, Stefano Cotti Piccinelli, Costanza Lamperti, et al.Annals of Clinical and Translational Neurology|March 28, 2020
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52Angelica D'Amore, Alessandra Tessa, Valentina Naef, et al.Pageof 6