Michelakakis H - Search Results

1

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV. Feldhammer M, et al. Among authors: michelakakis h. Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Hum Mutat. 2009. PMID: 19479962 Review.

2

Mutation analysis in 20 patients with Hunter disease.

Goldenfum SL, Young E, Michelakakis H, Tsagarakis S, Winchester B. Goldenfum SL, et al. Among authors: michelakakis h. Hum Mutat. 1996;7(1):76-8. doi: 10.1002/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P. Hum Mutat. 1996. PMID: 8664909 No abstract available.

3

Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ. Hermans MM, et al. Among authors: michelakakis h. Hum Mutat. 2004 Jan;23(1):47-56. doi: 10.1002/humu.10286. Hum Mutat. 2004. PMID: 14695532

4

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A; GAA Database Consortium. Kroos M, et al. Among authors: michelakakis h. Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22644586

5

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E. Hofer D, et al. Among authors: michelakakis h. Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031. Hum Mutat. 2009. PMID: 19472408

6

Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

Paschke E, Milos I, Kreimer-Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, Kleijer W, Levade T, Michelakakis H, Radeva B. Paschke E, et al. Among authors: michelakakis h. Hum Genet. 2001 Aug;109(2):159-66. doi: 10.1007/s004390100570. Hum Genet. 2001. PMID: 11511921

7

Sanfilippo B syndrome: molecular defects in Greek patients.

Beesley C, Moraitou M, Winchester B, Schulpis K, Dimitriou E, Michelakakis H. Beesley C, et al. Among authors: michelakakis h. Clin Genet. 2004 Feb;65(2):143-9. doi: 10.1111/j.0009-9163.2004.00210.x. Clin Genet. 2004. PMID: 14984474

8

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.

Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D. Santamaria R, et al. Among authors: michelakakis h. Hum Mutat. 2008 Jun;29(6):E58-67. doi: 10.1002/humu.20776. Hum Mutat. 2008. PMID: 18429048

9

Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.

Hollak CE, vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, Collin-Histed T, Deegan P, van Dussen L, Giraldo P, Mengel E, Michelakakis H, Manuel J, Hrebicek M, Parini R, Reinke J, di Rocco M, Pocovi M, Sa Miranda MC, Tylki-Szymanska A, Zimran A, Cox TM. Hollak CE, et al. Among authors: michelakakis h. Blood Cells Mol Dis. 2010 Jan 15;44(1):41-7. doi: 10.1016/j.bcmd.2009.09.006. Epub 2009 Oct 4. Blood Cells Mol Dis. 2010. PMID: 19804996

10

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.

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