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Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Coratti G, Bovis F, Pera MC, Scoto M, Montes J, Pasternak A, Mayhew A, Muni-Lofra R, Duong T, Rohwer A, Dunaway Young S, Civitello M, Salmin F, Mizzoni I, Morando S, Pane M, Albamonte E, D'Amico A, Brolatti N, Sframeli M, Marini-Bettolo C, Sansone VA, Bruno C, Messina S, Bertini E, Baranello G, Day J, Darras BT, De Vivo DC, Hirano M, Muntoni F, Finkel R, Mercuri E; ISMAC group. Coratti G, et al. Among authors: muntoni f. Eur J Neurol. 2024 Aug;31(8):e16309. doi: 10.1111/ene.16309. Epub 2024 Apr 24. Eur J Neurol. 2024. PMID: 38656662 Free PMC article.
Congenital muscular dystrophies.
Mercuri E, Sewry C, Brown SC, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Semin Pediatr Neurol. 2002 Jun;9(2):120-31. doi: 10.1053/spen.2002.33802. Semin Pediatr Neurol. 2002. PMID: 12138996 Review.
Fracture prevalence in Duchenne muscular dystrophy.
McDonald DG, Kinali M, Gallagher AC, Mercuri E, Muntoni F, Roper H, Jardine P, Jones DH, Pike MG. McDonald DG, et al. Among authors: muntoni f. Dev Med Child Neurol. 2002 Oct;44(10):695-8. doi: 10.1017/s0012162201002778. Dev Med Child Neurol. 2002. PMID: 12418795 Free article.
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. Mercuri E, et al. Among authors: muntoni f. Arch Neurol. 2004 May;61(5):690-4. doi: 10.1001/archneur.61.5.690. Arch Neurol. 2004. PMID: 15148145
Can clinical signs identify newborns with neuromuscular disorders?
Vasta I, Kinali M, Messina S, Guzzetta A, Kapellou O, Manzur A, Cowan F, Muntoni F, Mercuri E. Vasta I, et al. Among authors: muntoni f. J Pediatr. 2005 Jan;146(1):73-9. doi: 10.1016/j.jpeds.2004.08.047. J Pediatr. 2005. PMID: 15644826
952 results