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Page 1
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
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
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.
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.
Macrophages excite muscle spindles with glutamate to bolster locomotion.
Yan Y, Antolin N, Zhou L, Xu L, Vargas IL, Gomez CD, Kong G, Palmisano I, Yang Y, Chadwick J, Müller F, Bull AMJ, Lo Celso C, Primiano G, Servidei S, Perrier JF, Bellardita C, Di Giovanni S. Yan Y, et al. Among authors: servidei s. Nature. 2024 Dec 4. doi: 10.1038/s41586-024-08272-5. Online ahead of print. Nature. 2024. PMID: 39633045
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.
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
296 results