Pubblicazioni UOSI Malattie Neuromuscolari dell'età evolutiva

Brugnoni R, Canioni E, Filosto M, Pini A, Tonin P, Rossi T, Canavese C, Eoli M, Siciliano G, Lauria G, Mantegazza R, Maggi L.
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes. Neurogenetics. 2021 Oct 5. doi: 10.1007/s10048-021-00673-2. Epub ahead of print. PMID: 34608571.

Lombardo ME, Carraro E, Sancricca C, Armando M, Catteruccia M, Mazzone E, Ricci G, Salamino F, Santorelli FM, Filosto M; UILDM (Italian Muscular Dystrophy Association) and Italian Consensus Conference Group on motor rehabilitation in muscular dystrophy.
Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019).
Acta Myologica: myopathies. 2021 Jun 30;40(2):72-87. doi: 10.36185/2532-1900-046. PMID: 34355124; PMCID: PMC8290512.

Biagi L, Lenzi S, Cipriano E, Fiori S, Bosco P, Cristofani P, Astrea G, Pini A, Cioni G, Mercuri E, Tosetti M, Battini R.
Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging.
PLoS One. 2021 May 3;16(5):e0250420. doi: 10.1371/journal.pone.0250420. PMID: 33939732; PMCID: PMC8092766.

Bolotta A, Pini A, Abruzzo PM, Ghezzo A, Modesti A, Gamberi T, Ferreri C, Bugamelli F, Fortuna F, Vertuani S, Manfredini S, Zucchini C, Marini M. Effects of tocotrienol supplementation in Friedreich's ataxia: A model of oxidative stress pathology.
Experimental Biology Medicine (Maywood). 2020 Feb;245(3):201-212. doi: 10.1177/1535370219890873. Epub 2019 Dec 3. PMID: 31795754; PMCID: PMC7045332.

Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A.
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Frontiers in Genetics. 2020 Mar 3;11:131. doi:10.3389/fgene.2020.00131. PMID: 32194622; PMCID: PMC7063120.

Bello L, D'Angelo G, Villa M, Fusto A, Vianello S, Merlo B, Sabbatini D, Barp A, Gandossini S, Magri F, Comi GP, Pedemonte M, Tacchetti P, Lanzillotta V, Trucco F, D'Amico A, Bertini E, Astrea G, Politano L, Masson R, Baranello G, Albamonte E, De Mattia E, Rao F, Sansone VA, Previtali S, Messina S, Vita GL, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Vianello A, Bruno C, Hoffman EP, Morgenroth L, Gordish-Dressman H, McDonald CM; CINRG-DNHS Investigators, Pegoraro E.
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Ann Clin Transl Neurol. 2020 May;7(5):786-798. doi: 10.1002/acn3.51046. Epub 2020 Apr 28. PMID: 32343055; PMCID: PMC7261745.

D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di
Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM.
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study. 
Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. PMID: 30564185; PMCID: PMC6289125.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Orphanet Journal of Rare Diseases. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. PMID: 30257713; PMCID: PMC6158856.

D'Amico A, Catteruccia M, Baranello G, Politano L, Govoni A, Previtali SC, Pane M, D'Angelo MG, Bruno C, Messina S, Ricci F, Pegoraro E, Pini A,
Berardinelli A, Gorni K, Battini R, Vita G, Trucco F, Scutifero M, Petillo R, D'Ambrosio P, Ardissone A, Pasanisi B, Vita G, Mongini T, Moggio M, Comi GP, Mercuri E, Bertini E.
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.
Neuromuscular Disorders. 2017 May;27(5):447-451. doi: 10.1016/j.nmd.2017.02.006. Epub 2017 Feb 14. PMID: 28262469.