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Items: 1 to 20 of 342

1.

Cognitive-behavioral profiles in teenagers with Dravet syndrome.

Olivieri G, Battaglia D, Chieffo D, Rubbino R, Ranalli D, Contaldo I, Dravet C, Mercuri E, Guzzetta F.

Brain Dev. 2016 Jan 18. pii: S0387-7604(16)00002-4. doi: 10.1016/j.braindev.2015.12.014. [Epub ahead of print]

PMID:
26797655
2.

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.

Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, Ramsey D, Mayhew A, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, Vita GL, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Kaufmann P, Darras BT, Bertini E, Muntoni F, De Vivo DC.

Neuromuscul Disord. 2016 Feb;26(2):126-31. doi: 10.1016/j.nmd.2015.10.006. Epub 2015 Dec 3.

3.

Severe skin radiodermatitis fully healed with the use of platelet gel and a hyperbaric chamber.

Piccin A, Di Pierro AM, Corvetta D, Canzian L, Gentilini I, Primerano M, Tupini C, Mercuri E, Negri G, Mazzoleni G, Fontanella F.

Blood Transfus. 2015 Dec 11:1-3. doi: 10.2450/2015.0191-15. [Epub ahead of print] No abstract available.

4.

Correction: 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. 2015 Dec 4;10(12):e0144079. doi: 10.1371/journal.pone.0144079. eCollection 2015.

5.

Disorders of early language development in Dravet syndrome.

Chieffo D, Battaglia D, Lucibello S, Gambardella ML, Moriconi F, Ferrantini G, Leo G, Dravet C, Mercuri E, Guzzetta F.

Epilepsy Behav. 2016 Jan;54:30-3. doi: 10.1016/j.yebeh.2015.10.027. Epub 2015 Nov 26.

PMID:
26630186
6.

Longitudinal effect of eteplirsen vs. historical control on ambulation in DMD.

Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, Kaye EM, Mercuri E; Eteplirsen Study Group; DMD Italian Network.

Ann Neurol. 2015 Nov 17. doi: 10.1002/ana.24555. [Epub ahead of print]

PMID:
26573217
7.

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E.

J Med Genet. 2015 Dec;52(12):804-14. doi: 10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30.

PMID:
26424144
8.

Are high cumulative doses of erythropoietin neuroprotective in preterm infants? A two year follow-up report.

Luciano R, Fracchiolla A, Ricci D, Cota F, D'Andrea V, Gallini F, Papacci P, Mercuri E, Romagnoli C.

Ital J Pediatr. 2015 Sep 17;41:64. doi: 10.1186/s13052-015-0171-1.

9.

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.

Ricotti V, Mandy WP, Scoto M, Pane M, Deconinck N, Messina S, Mercuri E, Skuse DH, Muntoni F.

Dev Med Child Neurol. 2016 Jan;58(1):77-84. doi: 10.1111/dmcn.12922. Epub 2015 Sep 14.

PMID:
26365034
10.

Use of the Hammersmith Infant Neurological Examination in infants with cerebral palsy: a critical review of the literature.

Romeo DM, Ricci D, Brogna C, Mercuri E.

Dev Med Child Neurol. 2015 Aug 25. doi: 10.1111/dmcn.12876. [Epub ahead of print]

PMID:
26306473
11.

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study.

Chieffo D, Brogna C, Berardinelli A, D'Angelo G, Mallardi M, D'Amico A, Alfieri P, Mercuri E, Pane M.

PLoS One. 2015 Aug 14;10(8):e0133214. doi: 10.1371/journal.pone.0133214. eCollection 2015.

12.

Evaluation of bone remodeling around single dental implants of different lengths: a mechanobiological numerical simulation and validation using clinical data.

Sotto-Maior BS, Mercuri EG, Senna PM, Assis NM, Francischone CE, Del Bel Cury AA.

Comput Methods Biomech Biomed Engin. 2016 May;19(7):699-706. doi: 10.1080/10255842.2015.1052418. Epub 2015 Aug 7.

PMID:
26249362
13.

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.

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

Neuromuscul Disord. 2015 Oct;25(10):749-53. doi: 10.1016/j.nmd.2015.07.009. Epub 2015 Jul 17.

14.

Old measures and new scores in spinal muscular atrophy patients.

Mazzone E, Montes J, Main M, Mayhew A, Ramsey D, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, D'amico A, Van Den Hauwe M, Sivo S, Goemans N, Darras BT, Kaufmann P, Bertini E, De Vivo DC, Muntoni F, Finkel R, Mercuri E.

Muscle Nerve. 2015 Sep;52(3):435-7. doi: 10.1002/mus.24748. Epub 2015 Jul 24.

PMID:
26111847
15.

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.

Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group.

Neuromuscul Disord. 2015 Jul;25(7):593-602. doi: 10.1016/j.nmd.2015.04.009. Epub 2015 Apr 28. No abstract available.

PMID:
26045156
16.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A.

J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10.

PMID:
25957634
17.

Efficacy of idebenone in Duchenne muscular dystrophy.

Mercuri E, Muntoni F.

Lancet. 2015 May 2;385(9979):1704-6. doi: 10.1016/S0140-6736(15)60758-9. Epub 2015 Apr 20. No abstract available.

PMID:
25907159
18.

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
19.

Spinal muscular atrophy 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; Pediatric Neuromuscular Clinical Research Network, Muscle Study Group, SMA Europe.

Muscle Nerve. 2015 Dec;52(6):942-7. doi: 10.1002/mus.24670. Epub 2015 Oct 10.

PMID:
25846132
20.

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
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