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Results: 1 to 20 of 116

1.

Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation.

Romagnolo A, Masera S, Mattioda A, Superti G, Santorelli FM, Mongini T, Pinessi L, Cavalla P.

Eur J Neurol. 2014 Feb;21(2):e14-5. doi: 10.1111/ene.12297. No abstract available.

PMID:
24571105
[PubMed - in process]
2.

Myoclonus in mitochondrial disorders.

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G.

Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7.

PMID:
24510442
[PubMed - in process]
3.

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
4.

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
5.

Undiagnosed myopathy before surgery and safe anaesthesia table.

Trevisan CP, Accorsi A, Morandi LO, Mongini T, Savoia G, Gravino E, Angelini C, Tegazzin V.

Acta Myol. 2013 Oct;32(2):100-5.

PMID:
24399867
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29.

PMID:
24375076
[PubMed - in process]
7.

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
8.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.

Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.

PMID:
24030947
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency.

Vianello A, Semplicini C, Paladini L, Concas A, Ravaglia S, Servidei S, Toscano A, Mongini T, Angelini C, Pegoraro E.

Lung. 2013 Oct;191(5):537-44. doi: 10.1007/s00408-013-9489-x. Epub 2013 Jul 10.

PMID:
23839583
[PubMed - indexed for MEDLINE]
10.

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1.

PMID:
23635963
[PubMed - indexed for MEDLINE]
11.

EFNS review on the role of muscle biopsy in the investigation of myalgia.

Kyriakides T, Angelini C, Schaefer J, Mongini T, Siciliano G, Sacconi S, Joseph J, Burgunder JM, Bindoff LA, Vissing J, de Visser M, Hilton-Jones D.

Eur J Neurol. 2013 Jul;20(7):997-1005. doi: 10.1111/ene.12174. Epub 2013 Apr 30. Review.

PMID:
23627674
[PubMed - indexed for MEDLINE]
12.

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

Spada M, Porta F, Vercelli L, Pagliardini V, Chiadò-Piat L, Boffi P, Pagliardini S, Remiche G, Ronchi D, Comi G, Mongini T.

Mol Genet Metab. 2013 Jun;109(2):171-3. doi: 10.1016/j.ymgme.2013.03.002. Epub 2013 Mar 14.

PMID:
23566438
[PubMed - indexed for MEDLINE]
13.

Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders.

Racca F, Mongini T, Wolfler A, Vianello A, Cutrera R, Del Sorbo L, Capello EC, Gregoretti C, Massa R, De Luca D, Conti G, Tegazzin V, Toscano A, Ranieri VM.

Minerva Anestesiol. 2013 Apr;79(4):419-33. Epub 2013 Feb 18. Review.

PMID:
23419334
[PubMed - indexed for MEDLINE]
14.

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;8(1):e52512. doi: 10.1371/journal.pone.0052512. Epub 2013 Jan 11.

PMID:
23326337
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.

Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases.

Neuromuscul Disord. 2012 Dec;22 Suppl 3:S226-9. doi: 10.1016/j.nmd.2012.10.012. Review.

PMID:
23182644
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.

Caroppo P, D'Agata F, Mignarri A, Stromillo ML, Dotti MT, Mongini T.

Neurol Sci. 2013 Sep;34(9):1693-6. doi: 10.1007/s10072-012-1262-z. Epub 2012 Dec 5. No abstract available.

PMID:
23212406
[PubMed - indexed for MEDLINE]
17.

The indistinct borders between psychological motivation, self-esteem, stress response and pain underline this assumption.

Siciliano G, Mongini T, Toscano A.

Neuromuscul Disord. 2012 Dec;22 Suppl 3:S155. doi: 10.1016/j.nmd.2012.10.001. No abstract available.

PMID:
23182630
[PubMed - indexed for MEDLINE]
18.

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.

Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Luca Vita G, Messina S, Politano L, Passamano L, Di Gregorio G, Montomoli C, Orsi C, Campanella A, Mantegazza R, Morandi L.

Eur J Hum Genet. 2013 Jun;21(6):630-6. doi: 10.1038/ejhg.2012.233. Epub 2012 Oct 17.

PMID:
23073312
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures.

Lerario A, Bonfiglio S, Sormani M, Tettamanti A, Marktel S, Napolitano S, Previtali S, Scarlato M, Natali-Sora M, Mercuri E, Bresolin N, Mongini T, Comi G, Gatti R, Ciceri F, Cossu G, Torrente Y.

BMC Neurol. 2012 Sep 13;12:91. doi: 10.1186/1471-2377-12-91.

PMID:
22974002
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A.

BMC Med Genet. 2012 Aug 16;13:73.

PMID:
22894145
[PubMed - indexed for MEDLINE]
Free PMC Article

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