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Year Number of Results
2000 2
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2006 3
2007 2
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2009 2
2010 3
2011 2
2013 3
2014 3
2015 2
2016 3
2017 1
2018 3
2019 3
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42 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.
Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.
Zanin S, Ciscato F, Petrucci A, Botta A, Chiossi F, Vazza G, Rizzuto R, Pallafacchina G. Zanin S, et al. Among authors: vazza g. Cell Mol Life Sci. 2025 Apr 9;82(1):151. doi: 10.1007/s00018-025-05676-y. Cell Mol Life Sci. 2025. PMID: 40202561 Free PMC article.
Exploring the tumor suppressor role of RIN1 in familial thyroid carcinoma.
Picello L, Dalle Nogare M, Puggina D, Salvoro C, Pennelli G, Gaudenzi G, Carra S, Oldani M, Gentilini D, Fugazzola L, Faggiano A, Vitale G, Occhi G, Vazza G. Picello L, et al. Among authors: vazza g. Endocr Relat Cancer. 2025 Apr 8;32(5):e240344. doi: 10.1530/ERC-24-0344. Print 2025 May 1. Endocr Relat Cancer. 2025. PMID: 40116813
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.
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
42 results