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Page 1
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, Monforte M, Zampatti S, Primiano G, Sancricca C, Bortolani S, Torchia E, Ravera B, Torri F, Gadaleta G, Risi B, Caria F, Gerardi F, Carraro E, Gioiosa V, Garibaldi M, Tufano L, Frezza E, Massa R, Caltagirone C, Pennisi EM, Petrucci A, Pane M, Frongia A, Gragnani F, Scutifero M, Mandich P, Grandis M, Maioli MA, Casali C, Manfroi E, Politano L, Passamano L, Petillo R, Rodolico C, Pugliese A, Previtali SC, Sansone V, Vercelli L, Mongini TE, Ricci G, Siciliano G, Filosto M, Ricci E, Cascella R, Giardina E; FSHD Italian Clinical Group. Strafella C, et al. Among authors: bortolani s. Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2. Clin Epigenetics. 2024. PMID: 39438900 Free PMC article.
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone YM, Pugliese A, Primiano G, Sancricca C, Lopergolo D, Greco G, Gemelli C, Ravaglia S, Bencivenga RP, Velardo D, Magri F, Valentino ML, Cheli M, Torchia E, Lucchini M, Petrucci A, Ricci G, Garibaldi M, Astrea G, Rubegni A, Angelini CI, Ariatti A, Santorelli FM, Ruggieri A, Antonini G, Siciliano G, Filosto M, Mirabella M, Liguori R, Comi GP, Ruggiero L, Grandis M, Massa R, Malandrini A, Servidei S, Mongini TE, Rodolico C, Toscano A, Previtali SC, Tonin P, Diaz-Manera J, Monforte M, Ricci E, Maggi L, Tasca G. Bortolani S, et al. Neurology. 2024 Aug 27;103(4):e209697. doi: 10.1212/WNL.0000000000209697. Epub 2024 Aug 5. Neurology. 2024. PMID: 39102614
Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.
Govoni A, Ricci G, Bonanno S, Bello L, Magri F, Meneri M, Torri F, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Gadaleta G, Capece G, Caumo L, Tanel R, Saccani E, Vacchiano V, Sorarù G, D'Errico E, Tramacere I, Bortolani S, Rolle E, Gellera C, Zanin R, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Maioli MA, Simone IL, Mongini T, Corti S, Manca ML, Pegoraro E, Siciliano G, Comi GP, Maggi L. Govoni A, et al. Among authors: bortolani s. Muscle Nerve. 2024 Oct;70(4):816-823. doi: 10.1002/mus.28225. Epub 2024 Aug 2. Muscle Nerve. 2024. PMID: 39096012
Temporalis muscle thickness as a predictor of functional outcome after reperfusion therapies for acute ischemic stroke: a retrospective, cohort study.
Ravera B, Lombardi C, Bellavia S, Scala I, Cerulli F, Torchia E, Bortolani S, Rizzo PA, Frisullo G, Broccolini A, Della Marca G, Calabresi P, Monforte M. Ravera B, et al. Among authors: bortolani s. J Neurol. 2024 Sep;271(9):6015-6024. doi: 10.1007/s00415-024-12575-y. Epub 2024 Jul 19. J Neurol. 2024. PMID: 39028361
Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy.
Barzaghi L, Paoletti M, Monforte M, Bortolani S, Bonizzoni C, Thorsten F, Bergsland N, Santini F, Deligianni X, Tasca G, Ballante E, Figini S, Ricci E, Pichiecchio A. Barzaghi L, et al. Among authors: bortolani s. Muscle Nerve. 2024 Aug;70(2):248-256. doi: 10.1002/mus.28179. Epub 2024 Jun 14. Muscle Nerve. 2024. PMID: 38873946
Hospital admissions from the emergency department of adult patients affected by myopathies.
Monforte M, Torchia E, Bortolani S, Ravera B, Ricci E, Silvestri G, Servidei S, Primiano G, Mirabella M, Sabatelli M, Mercuri E, Franceschi F, Calabresi P, Covino M, Tasca G. Monforte M, et al. Among authors: bortolani s. Eur J Neurol. 2024 May;31(5):e16214. doi: 10.1111/ene.16214. Epub 2024 Jan 16. Eur J Neurol. 2024. PMID: 38226549 Free PMC article.
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.
Vicino A, Bello L, Bonanno S, Govoni A, Cerri F, Ferraro M, Capece G, Gadaleta G, Meneri M, Vacchiano V, Ricci G, D'Errico E, Tramacere I, Banfi P, Bortolani S, Zanin R, Maioli MA, Silvestrini M, Previtali SC, Berardinelli A, Turri M, Coccia M, Mantegazza R, Liguori R, Filosto M, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E, Maggi L. Vicino A, et al. Among authors: bortolani s. Neuromuscul Disord. 2023 Dec;33(12):911-916. doi: 10.1016/j.nmd.2023.10.002. Epub 2023 Oct 12. Neuromuscul Disord. 2023. PMID: 37945485
32 results