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636 results

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Page 1
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Strafella C, Colantoni L, Megalizzi D, Trastulli G, Piorgo EP, Primiano G, Sancricca C, Ricci G, Siciliano G, Caltagirone C, Filosto M, Tasca G, Ricci E, Cascella R, Giardina E. Strafella C, et al. Among authors: siciliano g. Clin Genet. 2024 Mar;105(3):335-339. doi: 10.1111/cge.14466. Epub 2023 Dec 2. Clin Genet. 2024. PMID: 38041579
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients.
Ricci G, Torri F, Govoni A, Chiappini R, Manca L, Vadi G, Roccella S, Magri F, Meneri M, Fassini F, Vacchiano V, Tomassini S, Gironella N, Coccia M, Comi G, Liguori R, Siciliano G. Ricci G, et al. Among authors: siciliano g. Acta Myol. 2023 Sep 30;42(2-3):65-70. doi: 10.36185/2532-1900-330. eCollection 2023. Acta Myol. 2023. PMID: 38090548 Free PMC article.
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: siciliano g. Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2. Clin Epigenetics. 2024. PMID: 39438900 Free PMC article.
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.
Doneddu PE, Akyil H, Manganelli F, Briani C, Cocito D, Benedetti L, Mazzeo A, Fazio R, Filosto M, Cosentino G, Di Stefano V, Antonini G, Marfia GA, Inghilleri M, Siciliano G, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Matà S, Rosso T, Minicuci GM, Lucchetta M, Cavaletti G, Liberatore G, Spina E, Campagnolo M, Peci E, Germano F, Gentile L, Strano C, Cotti Piccinelli S, Vegezzi E, Leonardi L, Mataluni G, Ceccanti M, Schirinzi E, Romozzi M, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. Among authors: siciliano g. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):614-621. doi: 10.1136/jnnp-2022-331011. Epub 2023 Apr 4. J Neurol Neurosurg Psychiatry. 2023. PMID: 37015771
636 results