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Results: 16

1.

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]
2.

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]
3.

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
4.

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]
5.

Atypical Case of Trichinellosis.

Severini S, Bracco C, Serraino C, Pomero F, Castagna E, Giraudo A, Silvestri A, Ferrigno D, Allione A, Vercelli L, Fenoglio LM.

Am J Med Sci. 2013 Apr 19. [Epub ahead of print] No abstract available.

PMID:
23608929
[PubMed - as supplied by publisher]
6.

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]
7.

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
8.

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
9.

The empowerment of translational research: lessons from laminopathies.

Benedetti S, Bernasconi P, Bertini E, Biagini E, Boriani G, Capanni C, Carboni N, Cenacchi G, Columbaro M, D'Adamo M, D'Amico A, D'Apice MR, Fontana M, Gambineri A, Lattanzi G, Liguori R, Maraldi NM, Mazzanti L, Mercuri E, Mongini T, Morandi LO, Neri I, Nigro G, Novelli G, Ortolani M, Pasquali R, Pini A, Petrini S, Politano L, Previtali S, Pucci L, Rapezzi C, Ricci G, Rodolico C, Sbraccia P, Scarano E, Siciliano G, Squarzoni S, Toscano A, Vercelli L, Ziacchi M.

Orphanet J Rare Dis. 2012 Jun 12;7:37.

PMID:
22691392
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.

Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R.

Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019.

PMID:
22482803
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.

J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3.

PMID:
22217918
[PubMed - indexed for MEDLINE]
12.

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.

Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R.

Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671.

PMID:
20544930
[PubMed - indexed for MEDLINE]
13.

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases.

Sansone VA, Panzeri M, Montanari M, Apolone G, Gandossini S, Rose MR, Politano L, Solimene C, Siciliano G, Volpi L, Angelini C, Palmieri A, Toscano A, Musumeci O, Mongini T, Vercelli L, Massa R, Panico MB, Grandi M, Meola G.

Eur J Neurol. 2010 Sep;17(9):1178-87. doi: 10.1111/j.1468-1331.2010.02992.x. Epub 2010 Mar 30.

PMID:
20374278
[PubMed - indexed for MEDLINE]
14.

Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions.

Trevisan CP, Pastorello E, Tomelleri G, Vercelli L, Bruno C, Scapolan S, Siciliano G, Comacchio F.

Eur J Neurol. 2008 Dec;15(12):1353-8. doi: 10.1111/j.1468-1331.2008.02314.x.

PMID:
19049553
[PubMed - indexed for MEDLINE]
15.

Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment.

Vercelli L, Mongini T, Olivero N, Rodolico C, Musumeci O, Palmucci L.

J Am Geriatr Soc. 2006 Apr;54(4):718-20. No abstract available.

PMID:
16686894
[PubMed - indexed for MEDLINE]
16.

Glycogen storage disease type II diagnosed in a 74-year-old woman.

Bosone I, Vercelli L, Mongini T, Chiadó-Piat L, Vittonatto E, Palmucci L, Servidei S, Silvestri G.

J Am Geriatr Soc. 2004 Jun;52(6):1034-5. No abstract available.

PMID:
15161487
[PubMed - indexed for MEDLINE]

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