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Items: 32

1.

Predominant distal muscle involvement in spinal muscular atrophy.

Brogna C, Cristiano L, Verdolotti T, Ficociello L, Pera MC, Antonaci L, De Sanctis R, Pichiecchio A, Cinnante CM, Tartaglione T, Colosimo C, Pane M, Mercuri E.

Neuromuscul Disord. 2019 Sep 13. pii: S0960-8966(19)31109-5. doi: 10.1016/j.nmd.2019.09.002. [Epub ahead of print] No abstract available.

PMID:
31606281
2.

Development of an academic disease registry for spinal muscular atrophy.

Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F; iSMAC Group.

Neuromuscul Disord. 2019 Aug 29. pii: S0960-8966(19)31105-8. doi: 10.1016/j.nmd.2019.08.014. [Epub ahead of print]

PMID:
31558335
3.

Long-term progression in type II spinal muscular atrophy: A retrospective observational study.

Mercuri E, Lucibello S, Pera MC, Carnicella S, Coratti G, de Sanctis R, Messina S, Mazzone E, Forcina N, Fanelli L, Norcia G, Antonaci L, Frongia AL, Pane M.

Neurology. 2019 Sep 24;93(13):e1241-e1247. doi: 10.1212/WNL.0000000000008166. Epub 2019 Aug 26.

PMID:
31451515
4.

Neonatal hypotonia and neuromuscular conditions.

Mercuri E, Pera MC, Brogna C.

Handb Clin Neurol. 2019;162:435-448. doi: 10.1016/B978-0-444-64029-1.00021-7.

PMID:
31324324
5.

Revised upper limb module for spinal muscular atrophy: 12 month changes.

Pera MC, Coratti G, Mazzone ES, Montes J, Scoto M, De Sanctis R, Main M, Mayhew A, Muni Lofra R, Dunaway Young S, Glanzman AM, Duong T, Pasternak A, Ramsey D, Darras B, Day JW, Finkel RS, De Vivo DC, Sormani MP, Bovis F, Straub V, Muntoni F, Pane M, Mercuri E; iSMAC Consortium Group.

Muscle Nerve. 2019 Apr;59(4):426-430. doi: 10.1002/mus.26419. Epub 2019 Feb 7.

PMID:
30677148
6.

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage.

Ambrosini A, Calabrese D, Avato FM, Catania F, Cavaletti G, Pera MC, Toscano A, Vita G, Monaco L, Pareyson D.

Orphanet J Rare Dis. 2018 Oct 4;13(1):176. doi: 10.1186/s13023-018-0918-z.

7.

Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy?

Pera MC, Luigetti M, Sivo S, Lapenta L, Granata G, Antonaci L, Coratti G, Forcina N, Pane M, Mercuri E.

Neuromuscul Disord. 2018 Oct;28(10):863-864. doi: 10.1016/j.nmd.2018.07.013. Epub 2018 Aug 4. No abstract available.

PMID:
30177455
8.

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, Mercuri E.

PLoS One. 2018 Jun 26;13(6):e0199657. doi: 10.1371/journal.pone.0199657. eCollection 2018.

9.

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy.

De Sanctis R, Pane M, Coratti G, Palermo C, Leone D, Pera MC, Abiusi E, Fiori S, Forcina N, Fanelli L, Lucibello S, Mazzone ES, Tiziano FD, Mercuri E.

Neuromuscul Disord. 2018 Jan;28(1):24-28. doi: 10.1016/j.nmd.2017.09.015. Epub 2017 Oct 10.

PMID:
29174525
10.

Paediatric optic neuritis: factors leading to unfavourable outcome and relapses.

Averseng-Peaureaux D, Mizzi M, Colineaux H, Mahieu L, Pera MC, Brassat D, Chaix Y, Berard E, Deiva K, Cheuret E; Kidbiosep study group.

Br J Ophthalmol. 2018 Jun;102(6):808-813. doi: 10.1136/bjophthalmol-2016-309978. Epub 2017 Sep 13.

PMID:
28903961
11.

MRI substrates of sustained attention system and cognitive impairment in pediatric MS patients.

De Meo E, Moiola L, Ghezzi A, Veggiotti P, Capra R, Amato MP, Pagani E, Fiorino A, Pippolo L, Pera MC, Comi G, Falini A, Filippi M, Rocca MA.

Neurology. 2017 Sep 19;89(12):1265-1273. doi: 10.1212/WNL.0000000000004388. Epub 2017 Aug 18.

12.

6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction.

Pera MC, Luigetti M, Pane M, Coratti G, Forcina N, Fanelli L, Mazzone ES, Antonaci L, Lapenta L, Palermo C, Ranalli D, Granata G, Lomonaco M, Servidei S, Mercuri E.

Neuromuscul Disord. 2017 Oct;27(10):879-882. doi: 10.1016/j.nmd.2017.07.007. Epub 2017 Jul 14. Review.

PMID:
28803817
13.

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

Pera MC, Coratti G, Forcina N, Mazzone ES, Scoto M, Montes J, Pasternak A, Mayhew A, Messina S, Sframeli M, Main M, Lofra RM, Duong T, Ramsey D, Dunaway S, Salazar R, Fanelli L, Civitello M, de Sanctis R, Antonaci L, Lapenta L, Lucibello S, Pane M, Day J, Darras BT, De Vivo DC, Muntoni F, Finkel R, Mercuri E.

BMC Neurol. 2017 Feb 23;17(1):39. doi: 10.1186/s12883-017-0790-9.

14.

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

Ramsey D, Scoto M, Mayhew A, Main M, Mazzone ES, Montes J, de Sanctis R, Dunaway Young S, Salazar R, Glanzman AM, Pasternak A, Quigley J, Mirek E, Duong T, Gee R, Civitello M, Tennekoon G, Pane M, Pera MC, Bushby K, Day J, Darras BT, De Vivo D, Finkel R, Mercuri E, Muntoni F.

PLoS One. 2017 Feb 21;12(2):e0172346. doi: 10.1371/journal.pone.0172346. eCollection 2017.

15.

Sleep disorders in spinal muscular atrophy.

Pera MC, Romeo DM, Graziano A, Palermo C, Messina S, Baranello G, Coratti G, Massaro M, Sivo S, Arnoldi MT, Mazzone ES, Antonaci L, Lapenta L, Albamonte E, Fanelli L, de Sanctis R, Vita GL, Sframeli M, Pane M, Mercuri E.

Sleep Med. 2017 Feb;30:160-163. doi: 10.1016/j.sleep.2016.11.012. Epub 2016 Nov 30.

PMID:
28215241
16.

Developmental milestones in type I spinal muscular atrophy.

De Sanctis R, Coratti G, Pasternak A, Montes J, Pane M, Mazzone ES, Young SD, Salazar R, Quigley J, Pera MC, Antonaci L, Lapenta L, Glanzman AM, Tiziano D, Muntoni F, Darras BT, De Vivo DC, Finkel R, Mercuri E.

Neuromuscul Disord. 2016 Nov;26(11):754-759. doi: 10.1016/j.nmd.2016.10.002. Epub 2016 Oct 5.

17.

Revised upper limb module for spinal muscular atrophy: Development of a new module.

Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E.

Muscle Nerve. 2017 Jun;55(6):869-874. doi: 10.1002/mus.25430. Epub 2017 Feb 6.

PMID:
27701745
18.

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.

Mercuri E, Coratti G, Messina S, Ricotti V, Baranello G, D'Amico A, Pera MC, Albamonte E, Sivo S, Mazzone ES, Arnoldi MT, Fanelli L, De Sanctis R, Romeo DM, Vita GL, Battini R, Bertini E, Muntoni F, Pane M.

PLoS One. 2016 Aug 5;11(8):e0160195. doi: 10.1371/journal.pone.0160195. eCollection 2016.

19.

Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy.

Pera MC, Randazzo G, Masnada S, Dontin SD, De Giorgis V, Balottin U, Veggiotti P.

Funct Neurol. 2015 Jul-Sep;30(3):173-9.

20.

How to Manage Electrical Status Epilepticus in Sleep.

Veggiotti P, Pera MC, Olivotto S, De Giorgis V.

J Clin Neurophysiol. 2016 Feb;33(1):3-9. doi: 10.1097/WNP.0000000000000235. Review.

PMID:
26840869
21.

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.

22.

Regional hippocampal involvement and cognitive impairment in pediatric multiple sclerosis.

Rocca MA, Morelli ME, Amato MP, Moiola L, Ghezzi A, Veggiotti P, Capra R, Pagani E, Portaccio E, Fiorino A, Pippolo L, Pera MC, Comi G, Falini A, Filippi M.

Mult Scler. 2016 Apr;22(5):628-40. doi: 10.1177/1352458515598569. Epub 2015 Aug 18.

PMID:
26286701
23.

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
24.

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
25.

Cognitive impairment in paediatric multiple sclerosis patients is not related to cortical lesions.

Rocca MA, De Meo E, Amato MP, Copetti M, Moiola L, Ghezzi A, Veggiotti P, Capra R, Fiorino A, Pippolo L, Pera MC, Falini A, Comi G, Filippi M.

Mult Scler. 2015 Jun;21(7):956-9. doi: 10.1177/1352458514557303. Epub 2014 Nov 12.

PMID:
25392332
26.

Sudden and isolated Broca's aphasia: a new clinical phenotype of anti NMDA receptor antibodies encephalitis in children.

Deiva K, Pera MC, Maurey H, Chrétien P, Archambaud F, Bouilleret V, Tardieu M.

Eur J Paediatr Neurol. 2014 Nov;18(6):790-2. doi: 10.1016/j.ejpn.2014.06.002. Epub 2014 Jun 11.

PMID:
24980905
27.

Posterior brain damage and cognitive impairment in pediatric multiple sclerosis.

Rocca MA, Absinta M, Amato MP, Moiola L, Ghezzi A, Veggiotti P, Capra R, Portaccio E, Fiorino A, Pippolo L, Pera MC, Horsfield MA, Falini A, Comi G, Filippi M.

Neurology. 2014 Apr 15;82(15):1314-21. doi: 10.1212/WNL.0000000000000309. Epub 2014 Mar 19.

28.

Long-term evolution of neuropsychological competences in encephalopathy with status epilepticus during sleep: a variable prognosis.

Pera MC, Brazzo D, Altieri N, Balottin U, Veggiotti P.

Epilepsia. 2013 Oct;54 Suppl 7:77-85. doi: 10.1111/epi.12313. Review.

29.

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Catteruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E.

Neuromuscul Disord. 2013 Jun;23(6):451-5. doi: 10.1016/j.nmd.2013.02.012. Epub 2013 Mar 25.

PMID:
23535446
30.

Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options.

Brazzo D, Pera MC, Fasce M, Papalia G, Balottin U, Veggiotti P.

Epilepsy Res Treat. 2012;2012:642725. doi: 10.1155/2012/642725. Epub 2012 Aug 7.

31.

Therapy of encephalopathy with status epilepticus during sleep (ESES/CSWS syndrome): an update.

Veggiotti P, Pera MC, Teutonico F, Brazzo D, Balottin U, Tassinari CA.

Epileptic Disord. 2012 Mar;14(1):1-11. doi: 10.1684/epd.2012.0482. Review.

32.

[Aorto-ventricular tunnel with left aneurysm. Report of a case].

Medeiros JH, Frange PJ, Barbosa MR, Pera MC, Yamamoto I, Jatene AD.

Arq Bras Cardiol. 1977 Dec;30(6):433-6. Portuguese. No abstract available.

PMID:
614000

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