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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Among authors: muntoni f. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.
Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Wu TT, et al. Among authors: muntoni f. J Peripher Nerv Syst. 2023 Jun;28(2):237-251. doi: 10.1111/jns.12538. Epub 2023 Feb 17. J Peripher Nerv Syst. 2023. PMID: 36748295 Free PMC article.
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
Stimpson G, Ramsey D, Wolfe A, Mayhew A, Scoto M, Baranello G, Muni Lofra R, Main M, Milev E, Coratti G, Pane M, Sansone V, D'Amico A, Bertini E, Messina S, Bruno C, Albamonte E, Mazzone ES, Montes J, Glanzman AM, Zolkipli-Cunningham Z, Pasternak A, Duong T, Dunaway Young S, Civitello M, Marini-Bettolo C, Day JW, Darras BT, De Vivo DC, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Stimpson G, et al. Among authors: muntoni f. J Clin Med. 2023 Feb 28;12(5):1920. doi: 10.3390/jcm12051920. J Clin Med. 2023. PMID: 36902710 Free PMC article.
Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.
Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Milev E, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Wu TT, et al. Among authors: muntoni f. J Peripher Nerv Syst. 2023 Sep;28(3):382-389. doi: 10.1111/jns.12557. Epub 2023 May 18. J Peripher Nerv Syst. 2023. PMID: 37166413
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
Proud CM, Mercuri E, Finkel RS, Kirschner J, De Vivo DC, Muntoni F, Saito K, Tizzano EF, Desguerre I, Quijano-Roy S, Benguerba K, Raju D, Faulkner E, Servais L. Proud CM, et al. Among authors: muntoni f. Ann Clin Transl Neurol. 2023 Nov;10(11):2155-2160. doi: 10.1002/acn3.51889. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2023. PMID: 37691296 Free PMC article.
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys.
Stimpson G, Ridout D, Wolfe A, Milev E, O'Reilly E, Manzur A, Sarkozy A, Muntoni F, Cole TJ, Baranello G; NorthStar Network. Stimpson G, et al. Among authors: muntoni f. J Neuromuscul Dis. 2024;11(1):153-166. doi: 10.3233/JND-230159. J Neuromuscul Dis. 2024. PMID: 37980680 Free PMC article.
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Doherty CM, Howard P, O'Donnell LF, Zuccarino R, Wastling S, Milev E, Banks T, Shah S, Zafeiropoulos N, Stephens KJ, Sarkozy A, Grider T, Feely SME, Manzur A, Shy RR, Skorupinska M, Pipis M, Nicolaisen E, McDowell A, Dilek N, Rossor AM, Laura M, Clark C, Muntoni F, Thedens D, Thornton J, Morrow JM, Shy ME, Reilly MM. Doherty CM, et al. Among authors: muntoni f. Ann Neurol. 2024 Apr 13. doi: 10.1002/ana.26934. Online ahead of print. Ann Neurol. 2024. PMID: 38613459
926 results