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Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B. Dardis A, et al. Among authors: filosto m. J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679. J Clin Med. 2020. PMID: 32138288 Free PMC article.
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: filosto m. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513
The brain in late-onset glycogenosis II: a structural and functional MRI study.
Borroni B, Cotelli MS, Premi E, Gazzina S, Cosseddu M, Formenti A, Gasparotti R, Filosto M, Padovani A. Borroni B, et al. Among authors: filosto m. J Inherit Metab Dis. 2013 Nov;36(6):989-95. doi: 10.1007/s10545-013-9601-7. Epub 2013 Apr 23. J Inherit Metab Dis. 2013. PMID: 23609349
Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype.
Borroni B, Cotelli MS, Marchina E, Filosto M, Premi E, Padovani A. Borroni B, et al. Among authors: filosto m. Clin Neurol Neurosurg. 2013 Oct;115(10):2217-8. doi: 10.1016/j.clineuro.2013.06.020. Epub 2013 Jul 27. Clin Neurol Neurosurg. 2013. PMID: 23895867 No abstract available.
Genotype-phenotype correlation in Pompe disease, a step forward.
De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C. De Filippi P, et al. Among authors: filosto m. Orphanet J Rare Dis. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z. Orphanet J Rare Dis. 2014. PMID: 25103075 Free PMC article.
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).
Filosto M, Cotti Piccinelli S, Caria F, Gallo Cassarino S, Baldelli E, Galvagni A, Volonghi I, Scarpelli M, Padovani A. Filosto M, et al. J Clin Med. 2018 Oct 26;7(11):389. doi: 10.3390/jcm7110389. J Clin Med. 2018. PMID: 30373120 Free PMC article. Review.
260 results