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Results: 17

1.

Redefining phenotypes associated with mitochondrial DNA single deletion.

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

J Neurol. 2015 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Epub 2015 Mar 26.

PMID:
25808502
2.

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
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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.

9.

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.

10.

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.

11.

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.

12.

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
13.

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
14.

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
15.

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
16.

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
17.

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
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