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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Ricci G, Mele F, Govi M, Ruggiero L, Sera F, Vercelli L, Bettio C, Santoro L, Mongini T, Villa L, Moggio M, Filosto M, Scarlato M, Previtali SC, Tripodi SM, Pegoraro E, Telese R, Di Muzio A, Rodolico C, Bucci E, Antonini G, D'Angelo MG, Berardinelli A, Maggi L, Piras R, Maioli MA, Siciliano G, Tomelleri G, Angelini C, Tupler R. Ricci G, et al. Among authors: telese r. Sci Rep. 2020 Dec 10;10(1):21648. doi: 10.1038/s41598-020-78578-7. Sci Rep. 2020. PMID: 33303865 Free PMC article.
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A. Filosto M, et al. Among authors: telese r. Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5. Epub 2019 Mar 16. Adv Ther. 2019. PMID: 30879255
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi P, Errichiello E, Toscano A, Mongini T, Moggio M, Ravaglia S, Filosto M, Servidei S, Musumeci O, Giannini F, Piperno A, Siciliano G, Ricci G, Di Muzio A, Rigoldi M, Tonin P, Croce MG, Pegoraro E, Politano L, Maggi L, Telese R, Lerario A, Sancricca C, Vercelli L, Semplicini C, Pasanisi B, Bembi B, Dardis A, Palmieri I, Cereda C, Valente EM, Danesino C. De Filippi P, et al. Among authors: telese r. Curr Issues Mol Biol. 2023 Apr 1;45(4):2847-2860. doi: 10.3390/cimb45040186. Curr Issues Mol Biol. 2023. PMID: 37185710 Free PMC article.
Validity of the wall goniometer as a screening tool to detect postural abnormalities in Parkinson's disease.
Tinazzi M, Gandolfi M, Artusi CA, Lanzafame R, Zanolin E, Ceravolo R, Capecci M, Andrenelli E, Ceravolo MG, Bonanni L, Onofrj M, Telese R, Bertolotti C, Polverino P, Manganotti P, Mazzucchi S, Giannoni S, Vacca L, Stocchi F, Casali M, Zibetti M, Lopiano L, Fasano A, Geroin C. Tinazzi M, et al. Among authors: telese r. Parkinsonism Relat Disord. 2019 Dec;69:159-165. doi: 10.1016/j.parkreldis.2019.10.024. Epub 2019 Oct 30. Parkinsonism Relat Disord. 2019. PMID: 31704143
Does the Degree of Trunk Bending Predict Patient Disability, Motor Impairment, Falls, and Back Pain in Parkinson's Disease?
Geroin C, Artusi CA, Gandolfi M, Zanolin E, Ceravolo R, Capecci M, Andrenelli E, Ceravolo MG, Bonanni L, Onofrj M, Telese R, Bellavita G, Catalan M, Manganotti P, Mazzucchi S, Giannoni S, Vacca L, Stocchi F, Casali M, Falup-Pecurariu C, Zibetti M, Fasano A, Lopiano L, Tinazzi M. Geroin C, et al. Among authors: telese r. Front Neurol. 2020 Mar 31;11:207. doi: 10.3389/fneur.2020.00207. eCollection 2020. Front Neurol. 2020. PMID: 32296383 Free PMC article.
16 results