28492532 7881425 24590251 21439876 22613277 26231297 24245577 2510307[uid] - Search Results

Year	Number of Results
1989	1
1994	1
2011	1
2012	1
2013	1
2014	1
2015	1
2017	1
2024	0

1

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.

2

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R. Huie ML, et al. Hum Mol Genet. 1994 Dec;3(12):2231-6. doi: 10.1093/hmg/3.12.2231. Hum Mol Genet. 1994. PMID: 7881425

3

Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency.

Beltran Papsdorf TB, Howard JF Jr, Chahin N. Beltran Papsdorf TB, et al. Neurology. 2014 Mar 4;82(9):e73-5. doi: 10.1212/WNL.0000000000000163. Neurology. 2014. PMID: 24590251 Free PMC article.

4

Pompe disease: design, methodology, and early findings from the Pompe Registry.

Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A. Byrne BJ, et al. Mol Genet Metab. 2011 May;103(1):1-11. doi: 10.1016/j.ymgme.2011.02.004. Epub 2011 Feb 11. Mol Genet Metab. 2011. PMID: 21439876

5

The impact of antibodies in late-onset Pompe disease: a case series and literature review.

Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. Patel TT, et al. Mol Genet Metab. 2012 Jul;106(3):301-9. doi: 10.1016/j.ymgme.2012.04.027. Epub 2012 May 9. Mol Genet Metab. 2012. PMID: 22613277

6

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B. Musumeci O, et al. Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10. Neuromuscul Disord. 2015. PMID: 26231297

7

Phenotypical variation within 22 families with Pompe disease.

Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E. Wens SC, et al. Orphanet J Rare Dis. 2013 Nov 19;8:182. doi: 10.1186/1750-1172-8-182. Orphanet J Rare Dis. 2013. PMID: 24245577 Free PMC article.

8

[The physiology of bed rest].

Rubin M. Rubin M. Servir. 1989 Jul-Aug;37(4):234-9. Servir. 1989. PMID: 2510307 Portuguese. No abstract available.

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