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The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: barp a. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.
Farnè M, Fortunato F, Neri M, Farnè M, Balla C, Albamonte E, Barp A, Armaroli A, Perugini E, Carinci V, Facchini M, Chiarini L, Sansone VA, Straudi S, Tugnoli V, Sette E, Sensi M, Bertini M, Evangelista T, Ferlini A, Gualandi F. Farnè M, et al. Among authors: barp a. Eur J Med Genet. 2023 Jun;66(6):104749. doi: 10.1016/j.ejmg.2023.104749. Epub 2023 Mar 21. Eur J Med Genet. 2023. PMID: 36948289
Anti-HMGCR myopathy: barriers to prompt recognition.
Barp A, Merve A, Shah S, Desikan M, Hanna MG, Bugiardini E. Barp A, et al. Pract Neurol. 2023 Jun;23(3):239-242. doi: 10.1136/pn-2022-003589. Epub 2022 Dec 23. Pract Neurol. 2023. PMID: 36564213
Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center.
Ferrari Aggradi CR, Falcier E, Lizio A, Pirola A, Casiraghi J, Zanolini A, Carraro E, Mauro L, Rao F, Roma E, Iannello A, De Mattia E, Barp A, Lupone S, Gatti V, Italiano C, Sansone VA. Ferrari Aggradi CR, et al. Among authors: barp a. Can Respir J. 2022 Jun 18;2022:2321909. doi: 10.1155/2022/2321909. eCollection 2022. Can Respir J. 2022. PMID: 35762008 Free PMC article.
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy.
Mayhew AG, Moat D, McDermott MP, Eagle M, Griggs RC, King WM, James MK, Muni-Lofra R, Shillington A, Gregson S, Pallant L, Skura C, Staudt LA, Eichinger K, McMurchie H, Rabb R, Di Marco M, Brown S, Zanin R, Arnoldi MT, McIntyre M, Wilson A, Alfano LN, Lowes LP, Blomgren C, Milev E, Iodice M, Pasternak A, Chiu A, Lehnert I, Claus N, Dieruf KA, Rolle E, Nicorici A, Andres B, Hobbiebrunken E, Roetmann G, Kern V, Civitello M, Vogt S, Hayes MJ, Scholtes C, Lacroix C, Gunn T, Warner S, Newman J, Barp A, Kundrat K, Kovelman S, Powers PJ, Guglieri M; Muscle Study Group and TREAT-NMD. Mayhew AG, et al. Among authors: barp a. Neuromuscul Disord. 2022 Jun;32(6):460-467. doi: 10.1016/j.nmd.2022.02.012. Epub 2022 Feb 26. Neuromuscul Disord. 2022. PMID: 35618576 Free article.
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.
Falzarano MS, Grilli A, Zia S, Fang M, Rossi R, Gualandi F, Rimessi P, El Dani R, Fabris M, Lu Z, Li W, Mongini T, Ricci F, Pegoraro E, Bello L, Barp A, Sansone VA, Hegde M, Roda B, Reschiglian P, Bicciato S, Selvatici R, Ferlini A. Falzarano MS, et al. Among authors: barp a. HGG Adv. 2021 Aug 24;3(1):100054. doi: 10.1016/j.xhgg.2021.100054. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047845 Free PMC article.
Whole-body muscle MRI in McArdle disease.
Tobaly D, Laforêt P, Stojkovic T, Behin A, Petit FM, Barp A, Bello L, Carlier P, Carlier RY. Tobaly D, et al. Among authors: barp a. Neuromuscul Disord. 2022 Jan;32(1):5-14. doi: 10.1016/j.nmd.2021.07.397. Epub 2021 Aug 5. Neuromuscul Disord. 2022. PMID: 34711478
39 results