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Results: 1 to 20 of 305

1.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Sweeney HL, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'Donnell MW, Peltz SW, McDonald CM; PTC124-GD-007-DMD Study Group.

Muscle Nerve. 2014 Jul 5. doi: 10.1002/mus.24332. [Epub ahead of print]

PMID:
25042182
[PubMed - as supplied by publisher]
2.

Responsiveness of the MD-Childhood Rating Scale in dyskinetic cerebral palsy patients undergoing anticholinergic treatment.

Battini R, Casarano M, Sgandurra G, Olivieri I, Di Pietro R, Romeo DM, Mercuri E, Cioni G.

Eur J Paediatr Neurol. 2014 Jun 19. pii: S1090-3798(14)00108-1. doi: 10.1016/j.ejpn.2014.06.004. [Epub ahead of print]

PMID:
25022341
[PubMed - as supplied by publisher]
3.

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

Tasca G, Monforte M, Iannaccone E, Laschena F, Ottaviani P, Leoncini E, Boccia S, Galluzzi G, Pelliccioni M, Masciullo M, Frusciante R, Mercuri E, Ricci E.

PLoS One. 2014 Jun 16;9(6):e100292. doi: 10.1371/journal.pone.0100292. eCollection 2014.

PMID:
24932477
[PubMed - in process]
Free PMC Article
4.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

PMID:
24692096
[PubMed - in process]
5.

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients.

Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Schaefer K, D'Amico A, Colia G, Palermo C, Scoto M, Mayhew A, Eagle M, Servais L, Vigo M, Febrer A, Korinthenberg R, Jeukens M, de Viesser M, Totoescu A, Voit T, Bushby K, Muntoni F, Goemans N, Bertini E, Pane M, Mercuri E.

Neuromuscul Disord. 2014 Apr;24(4):347-52. doi: 10.1016/j.nmd.2014.01.003. Epub 2014 Jan 16.

PMID:
24491485
[PubMed - in process]
6.

Behavioral profile in RASopathies.

Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S.

Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23.

PMID:
24458522
[PubMed - in process]
7.

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.

Pane M, Mazzone ES, Fanelli L, De Sanctis R, Bianco F, Sivo S, D'Amico A, Messina S, Battini R, Scutifero M, Petillo R, Frosini S, Scalise R, Vita G, Bruno C, Pedemonte M, Mongini T, Pegoraro E, Brustia F, Gardani A, Berardinelli A, Lanzillotta V, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bonfiglio S, Rolle E, Colia G, Catteruccia M, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Morandi L, Bertini E, Politano L, Sormani M, Mercuri E.

Neuromuscul Disord. 2014 Mar;24(3):201-6. doi: 10.1016/j.nmd.2013.11.014. Epub 2013 Dec 5.

PMID:
24440357
[PubMed - in process]
Free Article
8.

Sleep disorders in children with cerebral palsy: neurodevelopmental and behavioral correlates.

Romeo DM, Brogna C, Quintiliani M, Baranello G, Pagliano E, Casalino T, Sacco A, Ricci D, Mallardi M, Musto E, Sivo S, Cota F, Battaglia D, Bruni O, Mercuri E.

Sleep Med. 2014 Feb;15(2):213-8. doi: 10.1016/j.sleep.2013.08.793. Epub 2013 Dec 13.

PMID:
24424102
[PubMed - in process]
9.

6 minute walk test in Duchenne MD patients with different mutations: 12 month changes.

Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E.

PLoS One. 2014 Jan 8;9(1):e83400. doi: 10.1371/journal.pone.0083400. eCollection 2014.

PMID:
24421885
[PubMed - in process]
Free PMC Article
10.

A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results.

Orcesi S, Ariaudo G, Mercuri E, Beghi E, Rezzani C, Balottin U; SOLE NMDs Study Group.

J Child Neurol. 2014 Feb;29(2):167-81. doi: 10.1177/0883073813511859. Epub 2013 Dec 18.

PMID:
24352162
[PubMed - in process]
11.

Natural history of pulmonary function in collagen VI-related myopathies.

Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG.

Brain. 2013 Dec;136(Pt 12):3625-33. doi: 10.1093/brain/awt284. Epub 2013 Nov 22.

PMID:
24271325
[PubMed - indexed for MEDLINE]
12.

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy.

Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.

PLoS One. 2013 Nov 11;8(11). doi: 10.1371/annotation/cbe611fe-cda9-4d98-9574-0ac18e109daa. eCollection 2013.

PMID:
24244257
[PubMed - as supplied by publisher]
Free PMC Article
13.

Muscular dystrophy: new challenges and review of the current clinical trials.

Mercuri E, Muntoni F.

Curr Opin Pediatr. 2013 Dec;25(6):701-7. doi: 10.1097/MOP.0b013e328365ace5. Review.

PMID:
24240289
[PubMed - indexed for MEDLINE]
14.

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.

J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.

PMID:
24162038
[PubMed - in process]
15.

Antepartum and intrapartum factors preceding neonatal hypoxic-ischemic encephalopathy.

Martinez-Biarge M, Diez-Sebastian J, Wusthoff CJ, Mercuri E, Cowan FM.

Pediatrics. 2013 Oct;132(4):e952-9. doi: 10.1542/peds.2013-0511. Epub 2013 Sep 9.

PMID:
24019409
[PubMed - indexed for MEDLINE]
16.

Prognostic value of the qualitative assessments of general movements in late-preterm infants.

Brogna C, Romeo DM, Cervesi C, Scrofani L, Romeo MG, Mercuri E, Guzzetta A.

Early Hum Dev. 2013 Dec;89(12):1063-6. doi: 10.1016/j.earlhumdev.2013.08.008. Epub 2013 Sep 1.

PMID:
24001477
[PubMed - indexed for MEDLINE]
17.

Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy.

Mayhew A, Mazzone ES, Eagle M, Duong T, Ash M, Decostre V, Vandenhauwe M, Klingels K, Florence J, Main M, Bianco F, Henrikson E, Servais L, Campion G, Vroom E, Ricotti V, Goemans N, McDonald C, Mercuri E; Performance of the Upper Limb Working Group.

Dev Med Child Neurol. 2013 Nov;55(11):1038-45. doi: 10.1111/dmcn.12213. Epub 2013 Aug 1. Review.

PMID:
23902233
[PubMed - indexed for MEDLINE]
18.

Perceptual-motor abilities in pre-school preterm children.

De Rose P, Albamonte E, Laganà V, Sivo S, Pisoni S, Gallini F, Serrao F, Tinelli F, Purpura G, Ometto A, Sacco A, Quintiliani M, De Clemente V, Graziano A, Romeo DM, Frezza S, Papacci P, Mosca F, Vicari S, Ramenghi LA, Cioni G, Romagnoli C, Mercuri E, Ricci D.

Early Hum Dev. 2013 Oct;89(10):809-14. doi: 10.1016/j.earlhumdev.2013.07.001. Epub 2013 Jul 17.

PMID:
23870751
[PubMed - indexed for MEDLINE]
19.

Perinatal brain lesions and cognitive outcome.

Mercuri E, Ricci D.

Dev Med Child Neurol. 2013 Oct;55(10):881-2. doi: 10.1111/dmcn.12216. Epub 2013 Jul 9. No abstract available.

PMID:
23837442
[PubMed - indexed for MEDLINE]
20.

Rasch analysis of clinical outcome measures in spinal muscular atrophy.

Cano SJ, Mayhew A, Glanzman AM, Krosschell KJ, Swoboda KJ, Main M, Steffensen BF, Bérard C, Girardot F, Payan CA, Mercuri E, Mazzone E, Elsheikh B, Florence J, Hynan LS, Iannaccone ST, Nelson LL, Pandya S, Rose M, Scott C, Sadjadi R, Yore MA, Joyce C, Kissel JT; International Coordinating Committee for SMA Clinical Trials Rasch Task Force.

Muscle Nerve. 2014 Mar;49(3):422-30. doi: 10.1002/mus.23937. Epub 2013 Jul 26.

PMID:
23836324
[PubMed - indexed for MEDLINE]

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