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953 results

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Page 1
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Doherty CM, Morrow JM, Zuccarino R, Howard P, Wastling S, Pipis M, Zafeiropoulos N, Stephens KJ, Grider T, Feely SME, Nopoulous P, Skorupinska M, Milev E, Nicolaisen E, Dudzeic M, McDowell A, Dilek N, Muntoni F, Rossor AM, Shah S, Laura M, Yousry TA, Thedens D, Thornton J, Shy ME, Reilly MM. Doherty CM, et al. Among authors: muntoni f. Ann Clin Transl Neurol. 2024 Mar;11(3):607-617. doi: 10.1002/acn3.51979. Epub 2024 Jan 3. Ann Clin Transl Neurol. 2024. PMID: 38173284 Free PMC article.
Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019.
Mercuri E, Messina S, Montes J, Muntoni F, Sansone VA; all participants and the SMA PROM working group. Mercuri E, et al. Among authors: muntoni f. Neuromuscul Disord. 2020 May;30(5):431-436. doi: 10.1016/j.nmd.2020.02.019. Epub 2020 Mar 7. Neuromuscul Disord. 2020. PMID: 32386743 Free article. No abstract available.
Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy.
Saoudi A, Mitsogiannis MD, Zarrouki F, Fergus C, Stojek E, Talavera S, Moore-Frederick D, Kelly VP, Goyenvalle A, Montanaro F, Muntoni F, Prenderville JA, Sokolowska E, Vaillend C. Saoudi A, et al. Among authors: muntoni f. Dis Model Mech. 2024 Dec 1;17(12):dmm050707. doi: 10.1242/dmm.050707. Epub 2024 Dec 24. Dis Model Mech. 2024. PMID: 39718030 Free article.
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: muntoni f. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint.
Servais L, Strijbos P, Poleur M, Mirea A, Butoianu N, Sansone VA, Vuillerot C, Schara-Schmidt U, Scoto M, Seferian AM, Previtali SC, Tulinius M, Nascimento A, Furlong P, Singh T, Dreghici RD, Goemans N, Mercuri E, Straub V, Ormazabal MG, Braid J, Muntoni F, Tricot A, Annoussamy M, Eggenspieler D. Servais L, et al. Among authors: muntoni f. Sci Rep. 2024 Nov 29;14(1):29681. doi: 10.1038/s41598-024-80177-9. Sci Rep. 2024. PMID: 39613806 Free PMC article.
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Among authors: muntoni f. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
Understanding North Star Ambulatory Assessment total scores and their implications for standards of care using observational data.
Stimpson G, James MK, Guglieri M, Wolfe A, Manzur A, Sarkozy A, Baranello G, Muntoni F, Mayhew A; UK NorthStar Clinical Network. Stimpson G, et al. Among authors: muntoni f. Eur J Paediatr Neurol. 2024 Nov;53:123-130. doi: 10.1016/j.ejpn.2024.09.004. Epub 2024 Sep 27. Eur J Paediatr Neurol. 2024. PMID: 39500128 Free article.
Characterization of patients with Duchenne muscular dystrophy across previously developed health states.
Muntoni F, Goemans N, Posner N, Signorovitch J, Johnson M, He C, Dorling P, Beaverson K, Alvir J, Mahn M, Ward SJ, McDonald CM, Mercuri E; PRO-DMD-01 study, the Imaging DMD study, iMDEX, the collaborative Trajectory Analysis Project (cTAP). Muntoni F, et al. PLoS One. 2024 Oct 30;19(10):e0307118. doi: 10.1371/journal.pone.0307118. eCollection 2024. PLoS One. 2024. PMID: 39475941 Free PMC article.
953 results