Servidei S - Search Results

1

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M. Lamantea E, et al. Among authors: servidei s. Ann Neurol. 2002 Aug;52(2):211-9. doi: 10.1002/ana.10278. Ann Neurol. 2002. PMID: 12210792

2

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: servidei s. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513

3

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono C, Scarano V, Cricchi F, Melone MA, Chiriaco M, Napolitano A, Malandrini A, De Michele G, Petrozzi L, Giraldi C, Santoro L, Servidei S, Casali C, Filla A, Santorelli FM. Patrono C, et al. Among authors: servidei s. Hum Mutat. 2005 May;25(5):506. doi: 10.1002/humu.9340. Hum Mutat. 2005. PMID: 15841487

4

Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.

Ravaglia S, Malovini A, Cirio S, Danesino C, De Filippi P, Moggio M, Mongini T, Maggi L, Servidei S, Vianello A, Toscano A, Tonin P, Maioli MA, Parini R, Filosto M, Crescimanno G, Arceri S, Piran M, Carlucci A. Ravaglia S, et al. Among authors: servidei s. J Appl Physiol (1985). 2021 Dec 1;131(6):1762-1771. doi: 10.1152/japplphysiol.00154.2020. Epub 2021 Nov 4. J Appl Physiol (1985). 2021. PMID: 34734785 Free article.

5

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C. Mantuano E, et al. Among authors: servidei s. J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2. J Neurol Sci. 2010. PMID: 20129625

6

Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease.

Siciliano M, De Candia E, Ballarin S, Vecchio FM, Servidei S, Annese R, Landolfi R, Rossi L. Siciliano M, et al. Among authors: servidei s. J Clin Gastroenterol. 2000 Jul;31(1):80-2. doi: 10.1097/00004836-200007000-00020. J Clin Gastroenterol. 2000. PMID: 10914784

7

Nutritional support in mitochondrial diseases: the state of the art.

Rinninella E, Pizzoferrato M, Cintoni M, Servidei S, Mele MC. Rinninella E, et al. Among authors: servidei s. Eur Rev Med Pharmacol Sci. 2018 Jul;22(13):4288-4298. doi: 10.26355/eurrev_201807_15425. Eur Rev Med Pharmacol Sci. 2018. PMID: 30024619 Free article.

8

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.

Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: servidei s. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.

9

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, Sframeli M, Allegra C, Barp A, Di Bari A, Salmin F, Albamonte E, Colacicco G, Panicucci C, Traverso M, Palermo C, Lerario A, Velardo D, D'Angelo MG, Berardinelli A, Gardani A, Nicotra R, Parravicini S, Siciliano G, Ricci G, Torri F, Gadaleta G, Urbano G, Rolle E, Ricci F, D'Amico A, Catteruccia M, Pini A, Giannotta M, Battini R, Marinella G, Previtali SC, Zambon AA, Ferlini A, Fortunato F, Magri F, Mongini TE, Sansone VA, Bruno C, Messina S, Nigro V, Moroni I, Mercuri E, Bello L, Pegoraro E. Gorgoglione D, et al. Among authors: servidei s. Brain. 2024 Nov 5:awae358. doi: 10.1093/brain/awae358. Online ahead of print. Brain. 2024. PMID: 39499670

10

Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach.

Cicchinelli M, Primiano G, Servidei S, Ardito M, Percio A, Urbani A, Iavarone F. Cicchinelli M, et al. Among authors: servidei s. Int J Mol Sci. 2024 Oct 5;25(19):10731. doi: 10.3390/ijms251910731. Int J Mol Sci. 2024. PMID: 39409059 Free PMC article.

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