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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 2
2002 2
2003 2
2006 3
2007 2
2008 1
2009 2
2010 3
2011 2
2013 3
2014 3
2015 2
2016 3
2017 1
2018 3
2019 3
2020 1
2021 2
2022 2
2023 1

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38 results

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Page 1
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network; Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Méreaux JL, et al. Among authors: vazza g. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
Lorenzon A, Pilichou K, Rigato I, Vazza G, De Bortoli M, Calore M, Occhi G, Carturan E, Lazzarini E, Cason M, Mazzotti E, Poloni G, Mostacciuolo ML, Daliento L, Thiene G, Corrado D, Basso C, Bauce B, Rampazzo A. Lorenzon A, et al. Among authors: vazza g. Am J Cardiol. 2015 Oct 15;116(8):1245-51. doi: 10.1016/j.amjcard.2015.07.037. Epub 2015 Jul 28. Am J Cardiol. 2015. PMID: 26310507
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Méreaux JL, et al. Among authors: vazza g. Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23. Neurogenetics. 2021. PMID: 33486633 Free PMC article.
Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.
De Bortoli M, Vio R, Basso C, Calore M, Minervini G, Angelini A, Melacini P, Vitiello L, Vazza G, Thiene G, Tosatto S, Corrado D, Iliceto S, Rampazzo A, Calore C. De Bortoli M, et al. Among authors: vazza g. Circ Genom Precis Med. 2020 Apr;13(2):e002824. doi: 10.1161/CIRCGEN.119.002824. Epub 2020 Jan 31. Circ Genom Precis Med. 2020. PMID: 32004434 No abstract available.
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C. Rossi S, et al. Among authors: vazza g. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy.
De Bortoli M, Postma AV, Poloni G, Calore M, Minervini G, Mazzotti E, Rigato I, Ebert M, Lorenzon A, Vazza G, Cipriani A, Bariani R, Perazzolo Marra M, Husser D, Thiene G, Daliento L, Corrado D, Basso C, Tosatto SCE, Bauce B, van Tintelen JP, Rampazzo A. De Bortoli M, et al. Among authors: vazza g. Circ Genom Precis Med. 2018 Oct;11(10):e002123. doi: 10.1161/CIRCGEN.118.002123. Circ Genom Precis Med. 2018. PMID: 30354300
Paradoxical GH Increase During OGTT Is Associated With First-Generation Somatostatin Analog Responsiveness in Acromegaly.
Scaroni C, Albiger N, Daniele A, Dassie F, Romualdi C, Vazza G, Regazzo D, Ferraù F, Barresi V, Maffeis V, Gardiman MP, Cannavò S, Maffei P, Ceccato F, Losa M, Occhi G. Scaroni C, et al. Among authors: vazza g. J Clin Endocrinol Metab. 2019 Mar 1;104(3):856-862. doi: 10.1210/jc.2018-01360. J Clin Endocrinol Metab. 2019. PMID: 30285115
Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel.
Faccinetto C, Sabbatini D, Serventi P, Rigato M, Salvoro C, Casamassima G, Margiotta G, De Fanti S, Sarno S, Staiti N, Luiselli D, Marino A, Vazza G. Faccinetto C, et al. Among authors: vazza g. Int J Legal Med. 2021 Nov;135(6):2295-2306. doi: 10.1007/s00414-021-02686-w. Epub 2021 Sep 7. Int J Legal Med. 2021. PMID: 34491421 Free PMC article.
38 results