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Italian Journal of Pediatrics|November 17, 2017
Congenital myopathies: clinical phenotypes and new diagnostic toolsDenise Cassandrini, Rosanna Trovato, Anna Rubegni, et al.Journal of the Neurological Sciences|April 18, 2021
Neuroimaging patterns in paediatric onset hereditary spastic paraplegiasClaudia Dosi, Rosa Pasquariello, Chiara Ticci, et al.Cells|February 23, 2024
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, et al.BMC Medical Genetics|March 24, 2016
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case reportGuja Astrea, Antonio Petrucci, Denise Cassandrini, et al.Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.Annals of Clinical and Translational Neurology|April 3, 2020
Expanding the clinical and genetic heterogeneity of SPAX5Claudia Dosi, Daniele Galatolo, Anna Rubegni, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 27, 2017
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1Anna Rubegni, Tiziana Pisano, Giacomo Bacci, et al.Biochemical and Biophysical Research Communications|April 7, 2018
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW geneElena Cardaioli, Andrea Mignarri, Teresa Anna Cantisani, et al.International Journal of Molecular Sciences|December 11, 2025
Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical ExpressivityGiorgia D'Este, Alejandro Giorgetti, Denise Cassandrini, et al.Clinical Genetics|November 12, 2021
Bi-allelic variants in MDH2: Expanding the clinical phenotypeChiara Ticci, Claudia Nesti, Anna Rubegni, et al.Pageof 6