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Results: 1 to 20 of 326

1.

Efficacy of idebenone in Duchenne muscular dystrophy.

Mercuri E, Muntoni F.

Lancet. 2015 Apr 20. pii: S0140-6736(15)60758-9. doi: 10.1016/S0140-6736(15)60758-9. [Epub ahead of print] No abstract available.

PMID:
25907159
2.

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.

Astrea G, Munteanu I, Cassandrini D, Lillis S, Trovato R, Pegoraro E, Cioni G, Mercuri E, Muntoni F, Battini R.

Pediatr Neurol. 2015 May;52(5):548-51. doi: 10.1016/j.pediatrneurol.2015.01.018. Epub 2015 Feb 7.

PMID:
25882082
3.

SMA functional composite score: A functional measure in spinal muscular atrophy.

Montes J, Glanzman AM, Mazzone ES, Martens WB, Dunaway S, Pasternak A, Riley SO, Quigley J, Pandya S, De Vivo DC, Kaufmann P, Chiriboga CA, Finkel RS, Tennekoon GI, Darras BT, Pane M, Mercuri E, McDermott MP; PNCR Network, Muscle Study Group, and SMA Europe..

Muscle Nerve. 2015 Apr 3. doi: 10.1002/mus.24670. [Epub ahead of print]

PMID:
25846132
4.

Atypical cystic echinococcosis in a young child.

Lavallen CM, Pons M, Mercuri E, Ortolani V, Scioscia N, Hollmann P, Denegri GM, Dopchiz MC.

Pediatr Infect Dis J. 2015 Feb;34(2):226. doi: 10.1097/INF.0000000000000525. No abstract available.

PMID:
25741976
5.

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.

Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F; on behalf of UK NorthStar Clinical Network.

J Neurol Neurosurg Psychiatry. 2015 Mar 2. pii: jnnp-2014-309405. doi: 10.1136/jnnp-2014-309405. [Epub ahead of print]

6.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.

Eur J Hum Genet. 2015 Feb 25. doi: 10.1038/ejhg.2015.19. [Epub ahead of print]

PMID:
25712080
7.

Prevalence of congenital muscular dystrophy in Italy: a population study.

Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E.

Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4.

PMID:
25653289
8.

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys.

Pane M, Mazzone ES, Sivo S, Fanelli L, De Sanctis R, D'Amico A, Messina S, Battini R, Bianco F, Scutifero M, Petillo R, Frosini S, Scalise R, Vita GL, 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, Busato F, Bonfiglio S, Rolle E, Colia G, Bonetti A, Palermo C, Graziano A, D'Angelo G, Pini A, Corlatti A, Gorni K, Baranello G, Antonaci L, Bertini E, Politano L, Mercuri E.

PLoS Curr. 2014 Oct 7;6. pii: ecurrents.md.a93d9904d57dcb08936f2ea89bca6fe6. doi: 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6.

9.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F.

Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21.

PMID:
25609763
10.

Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?

Bianco F, Pane M, D'Amico A, Messina S, Delogu AB, Soraru G, Pera MC, Mongini T, Politano L, Baranello G, Vita G, Tiziano FD, Morandi L, Bertini E, Mercuri E.

Neuropediatrics. 2015 Feb;46(1):33-6. doi: 10.1055/s-0034-1395348. Epub 2014 Dec 24.

PMID:
25539139
11.

Sleep-potentiated epileptiform activity in early thalamic injuries: Study in a large series (60 cases).

Losito E, Battaglia D, Chieffo D, Raponi M, Ranalli D, Contaldo I, Giansanti C, De Clemente V, Quintiliani M, Antichi E, Verdolotti T, de Waure C, Tartaglione T, Mercuri E, Guzzetta F.

Epilepsy Res. 2015 Jan;109:90-9. doi: 10.1016/j.eplepsyres.2014.10.015. Epub 2014 Oct 28.

PMID:
25524847
12.

A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: Is there a "dorsal stream vulnerability"?

Ricci D, Chieffo D, Battaglia D, Brogna C, Contaldo I, De Clemente V, Losito E, Dravet Ch, Mercuri E, Guzzetta F.

Epilepsy Res. 2015 Jan;109:57-64. doi: 10.1016/j.eplepsyres.2014.10.009. Epub 2014 Oct 28.

PMID:
25524843
13.

Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes.

Sivo S, Mazzone E, Antonaci L, De Sanctis R, Fanelli L, Palermo C, Montes J, Pane M, Mercuri E.

Neuromuscul Disord. 2015 Mar;25(3):212-5. doi: 10.1016/j.nmd.2014.11.008. Epub 2014 Nov 22.

PMID:
25500010
14.

Calf muscle involvement in Becker muscular dystrophy: when size does not matter.

Monforte M, Mercuri E, Laschena F, Ricci E, Tasca G.

J Neurol Sci. 2014 Dec 15;347(1-2):301-4. doi: 10.1016/j.jns.2014.10.030. Epub 2014 Oct 22.

PMID:
25455304
15.

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy.

De Sanctis R, Pane M, Sivo S, Ricotti V, Baranello G, Frosini S, Mazzone E, Bianco F, Fanelli L, Main M, Corlatti A, D'Amico A, Colia G, Scalise R, Palermo C, Alfonsi C, Tritto G, Romeo DM, Graziano A, Battini R, Morandi L, Bertini E, Muntoni F, Mercuri E.

Neuromuscul Disord. 2015 Jan;25(1):14-8. doi: 10.1016/j.nmd.2014.09.015. Epub 2014 Oct 6.

PMID:
25454732
16.

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy.

Lynn S, Aartsma-Rus A, Bushby K, Furlong P, Goemans N, De Luca A, Mayhew A, McDonald C, Mercuri E, Muntoni F, Pohlschmidt M, Verschuuren J, Voit T, Vroom E, Wells DJ, Straub V.

Neuromuscul Disord. 2015 Jan;25(1):96-105. doi: 10.1016/j.nmd.2014.09.003. Epub 2014 Sep 11. No abstract available.

PMID:
25307856
17.

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Maggi L, D'Amico A, Pini A, Sivo S, Pane M, Ricci G, Vercelli L, D'Ambrosio P, Travaglini L, Sala S, Brenna G, Kapetis D, Scarlato M, Pegoraro E, Ferrari M, Toscano A, Benedetti S, Bernasconi P, Colleoni L, Lattanzi G, Bertini E, Mercuri E, Siciliano G, Rodolico C, Mongini T, Politano L, Previtali SC, Carboni N, Mantegazza R, Morandi L.

Neurology. 2014 Oct 28;83(18):1634-44. doi: 10.1212/WNL.0000000000000934. Epub 2014 Oct 1.

PMID:
25274841
18.

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, D Ambrosio P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.

PLoS One. 2014 Oct 1;9(10):e108205. doi: 10.1371/journal.pone.0108205. eCollection 2014.

19.

Longitudinal assessment of perceptual-motor abilities in pre-school preterm children.

Brogna C, De Rose P, Sivo S, Laganà V, Graziano A, Alfonsi C, Albamonte E, Gallini F, Serrao F, Romeo DM, Frezza S, Papacci P, Romagnoli C, Mercuri E, Ricci D.

Early Hum Dev. 2014 Oct;90(10):645-7. doi: 10.1016/j.earlhumdev.2014.08.001. Epub 2014 Aug 29.

PMID:
25173651
20.

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L.

Tasca G, Evilä A, Pane M, Monforte M, Graziano A, Hackman P, Mercuri E, Udd B.

Neuromuscul Disord. 2014 Dec;24(12):1118-9. doi: 10.1016/j.nmd.2014.06.442. Epub 2014 Jul 9. No abstract available.

PMID:
25149668
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