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Page 1
Galactosialidosis: review and analysis of CTSA gene mutations.
Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A. Caciotti A, et al. Among authors: michelakakis h. Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114. Orphanet J Rare Dis. 2013. PMID: 23915561 Free PMC article. Review.
Danon disease: further clinical and molecular heterogeneity.
Sabourdy F, Michelakakis H, Anastasakis A, Garcia V, Mavridou I, Nieto M, Pons MC, Skiadas C, Moraitou M, Manta P, Elleder M, Levade T. Sabourdy F, et al. Among authors: michelakakis h. Muscle Nerve. 2009 Jun;39(6):837-44. doi: 10.1002/mus.21252. Muscle Nerve. 2009. PMID: 19373884
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
Serra-Vinardell J, Díaz L, Gutiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J. Serra-Vinardell J, et al. Among authors: michelakakis h. Int J Biochem Cell Biol. 2014 Sep;54:245-54. doi: 10.1016/j.biocel.2014.07.017. Epub 2014 Jul 30. Int J Biochem Cell Biol. 2014. PMID: 25084554
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT. van Capelle CI, et al. Among authors: michelakakis h. Orphanet J Rare Dis. 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y. Orphanet J Rare Dis. 2016. PMID: 27189384 Free PMC article.
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ. Labrijn-Marks I, et al. Among authors: michelakakis h. Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737479 Free PMC article.
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Caciotti A, Melani F, Tonin R, Cellai L, Catarzi S, Procopio E, Chilleri C, Mavridou I, Michelakakis H, Fioravanti A, d'Azzo A, Guerrini R, Morrone A. Caciotti A, et al. Among authors: michelakakis h. Mol Genet Metab. 2020 Feb;129(2):47-58. doi: 10.1016/j.ymgme.2019.09.005. Epub 2019 Oct 31. Mol Genet Metab. 2020. PMID: 31711734 Review.
127 results