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Year Number of Results
2004 1
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56 results

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Page 1
Myoclonus in mitochondrial disorders.
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: vercelli l. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7. Mov Disord. 2014. PMID: 24510442
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: vercelli l. Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2. Clin Epigenetics. 2024. PMID: 39438900 Free PMC article.
Response to a letter to the editor.
Rubino E, Zhang M, Mongini T, Boschi S, Vercelli L, Vacca A, Govone F, Gai A, Giordana MT, Grinberg M, Rogaeva E, Rainero I. Rubino E, et al. Among authors: vercelli l. Neurobiol Aging. 2019 Jun;78:195-196. doi: 10.1016/j.neurobiolaging.2019.02.015. Epub 2019 Mar 1. Neurobiol Aging. 2019. PMID: 31027854 No abstract available.
microRNAs as biomarkers in Pompe disease.
Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G. Tarallo A, et al. Among authors: vercelli l. Genet Med. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997386 Free article.
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: vercelli l. 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.
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.
Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases. Mancuso M, et al. Neuromuscul Disord. 2012 Dec;22 Suppl 3(3-3):S226-9. doi: 10.1016/j.nmd.2012.10.012. Neuromuscul Disord. 2012. PMID: 23182644 Free PMC article. Review.
Redefining phenotypes associated with mitochondrial DNA single deletion.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: vercelli l. J Neurol. 2015 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Epub 2015 Mar 26. J Neurol. 2015. PMID: 25808502
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. Ben Yaou R, et al. Among authors: vercelli l. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. Brain Commun. 2021. PMID: 34240052 Free PMC article.
A 5-year clinical follow-up study from the Italian National Registry for FSHD.
Vercelli L, Mele F, Ruggiero L, Sera F, Tripodi S, Ricci G, Vallarola A, Villa L, Govi M, Maranda L, Di Muzio A, Scarlato M, Bucci E, Maggi L, Rodolico C, Moggio M, Filosto M, Antonini G, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Siciliano G, Tomelleri G, Santoro L, Mongini T, Tupler R. Vercelli L, et al. J Neurol. 2021 Jan;268(1):356-366. doi: 10.1007/s00415-020-10144-7. Epub 2020 Aug 19. J Neurol. 2021. PMID: 32813049 Free PMC article.
56 results