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American Journal of Medical Genetics. Part A|November 28, 2020
Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropoutStefania Magri, Lorenzo Nanetti, Alessia Mongelli, et al.Journal of Neurogenetics|November 27, 2024
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1Dora Varvara, Serena Lattante, Stefania Magri, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|July 12, 2021
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotypeMarta Gatti, Stefania Magri, Daniela Di Bella, et al.Journal of the Peripheral Nervous System : JPNS|December 17, 2016
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-LomGiuseppe Piscosquito, Stefania Magri, Paola Saveri, et al.Journal of the Peripheral Nervous System : JPNS|August 27, 2015
Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutationsGiuseppe Piscosquito, Paola Saveri, Stefania Magri, et al.Journal of the Peripheral Nervous System : JPNS|August 21, 2020
Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth diseaseStefania Magri, Federica Rachele Danti, Francesca Balistreri, et al.Cerebellum (London, England)|August 23, 2024
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New CasesClaudia Ciaccio, Matilde Taddei, Chiara Pantaleoni, et al.Seizure|March 16, 2017
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutationFrancesca Ragona, Barbara Castellotti, Barbara Salis, et al.American Journal of Medical Genetics. Part A|August 23, 2019
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutationsMarta Gatti, Stefania Magri, Lorenzo Nanetti, et al.Journal of Neuromuscular Diseases|May 6, 2026
Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literatureElena Abati, Carola Rita Ferrari Aggradi, Stefania Magri, et al.Pageof 6