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Results by year

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

Year Number of Results
1998 1
2000 6
2001 3
2002 8
2003 3
2004 6
2005 6
2006 4
2007 7
2009 2
2010 2
2011 2
2012 8
2013 5
2014 3
2015 5
2016 6
2017 4
2018 3
2019 8
2020 3
2021 2
2022 3
2023 2
2024 0

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Similar articles for PMID: 15669674

90 results

Results by year

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Page 1
Congenital disorder of glycosylation (CDG) type Ie. A new patient.
García-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Martí Herreros M, Simón R, Maties M, Martín Hernández E, Hennet T, Briones P. García-Silva MT, et al. J Inherit Metab Dis. 2004;27(5):591-600. doi: 10.1023/b:boli.0000042984.42433.d8. J Inherit Metab Dis. 2004. PMID: 15669674
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Nagy S, Lau T, Alavi S, Karimiani EG, Vallian J, Ng BG, Noroozi Asl S, Akhondian J, Bahreini A, Yaghini O, Uapinyoying P, Bonnemann C, Freeze HH, Dissanayake VHW, Sirisena ND, Schmidts M, Houlden H, Moreno-De-Luca A, Maroofian R. Nagy S, et al. Clin Genet. 2022 Dec;102(6):530-536. doi: 10.1111/cge.14208. Epub 2022 Aug 19. Clin Genet. 2022. PMID: 35932216 Free PMC article.
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE. Dupré T, et al. J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679665 Free article.
90 results