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Items: 1 to 20 of 55

1.

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Müller-Felber W, Schoser B.

Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.

2.

Next generation sequencing detection of late onset pompe disease.

Angelini C, Savarese M, Fanin M, Nigro V.

Muscle Nerve. 2016 Jun;53(6):981-3. doi: 10.1002/mus.25042. Epub 2016 Apr 25.

PMID:
26800218
3.

Altered expression of lysosomal hydrolase, acid α-glucosidase, gene in coronary artery disease.

Zhang J, Ma L, Zhang J, Huang J, Wei G, Liu L, Zhang J, Yan B.

Coron Artery Dis. 2016 Mar;27(2):104-8. doi: 10.1097/MCA.0000000000000322.

PMID:
26580301
4.

Late onset form of Pompe disease.

Mattosova S, Hlavata A, Spalek P, Kotysova L, Macekova D, Chandoga J.

Bratisl Lek Listy. 2015;116(8):502-5.

PMID:
26350092
5.

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.

Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10.

PMID:
26231297
6.

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

Morales A, Poling MI, Páez MT, Cabrera J, McCormick RJ.

BMJ Case Rep. 2015 Jul 9;2015. pii: bcr2015210688. doi: 10.1136/bcr-2015-210688.

PMID:
26160551
7.

Novel GAA mutations in patients with Pompe disease.

Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB.

Gene. 2015 Apr 25;561(1):124-31. doi: 10.1016/j.gene.2015.02.023. Epub 2015 Feb 12.

PMID:
25681614
8.

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Liu X, Wang Z, Jin W, Lv H, Zhang W, Que C, Huang Y, Yuan Y.

BMC Med Genet. 2014 Dec 20;15:141. doi: 10.1186/s12881-014-0141-2.

9.

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW.

Hum Mutat. 2015 Jan;36(1):57-68. doi: 10.1002/humu.22705. Epub 2014 Dec 1.

PMID:
25243733
10.

Phase I/II trial of diaphragm delivery of recombinant adeno-associated virus acid alpha-glucosidase (rAAaV1-CMV-GAA) gene vector in patients with Pompe disease.

Byrne PI, Collins S, Mah CC, Smith B, Conlon T, Martin SD, Corti M, Cleaver B, Islam S, Lawson LA.

Hum Gene Ther Clin Dev. 2014 Sep;25(3):134-63. doi: 10.1089/humc.2014.2514. No abstract available.

PMID:
25238277
11.

Screening for late-onset Pompe disease in Finland.

Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B.

Neuromuscul Disord. 2014 Nov;24(11):982-5. doi: 10.1016/j.nmd.2014.06.438. Epub 2014 Jun 28.

PMID:
25047669
12.

Pompe disease: literature review and case series.

Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, Herbelin L, Barohn RJ, Dimachkie MM.

Neurol Clin. 2014 Aug;32(3):751-76, ix. doi: 10.1016/j.ncl.2014.04.010. Review.

13.

The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.

Khanna R, Powe AC Jr, Lun Y, Soska R, Feng J, Dhulipala R, Frascella M, Garcia A, Pellegrino LJ, Xu S, Brignol N, Toth MJ, Do HV, Lockhart DJ, Wustman BA, Valenzano KJ.

PLoS One. 2014 Jul 18;9(7):e102092. doi: 10.1371/journal.pone.0102092. eCollection 2014.

14.

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).

Aryani O, Manshadi MD, Tondar M, Khalili E, Kamalidehghan B, Ahmadipour F, Fani S, Houshmand M.

Mol Biol Rep. 2014 Sep;41(9):6211-4. doi: 10.1007/s11033-014-3500-3. Epub 2014 Jun 30.

PMID:
24976573
15.

Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.

Er TK, Chen CC, Chien YH, Liang WC, Kan TM, Jong YJ.

Clin Chim Acta. 2014 Feb 15;429:18-25. doi: 10.1016/j.cca.2013.10.013. Epub 2013 Oct 24.

PMID:
24444888
16.

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.

Esmer C, Becerra-Becerra R, Peña-Zepeda C, Bravo-Oro A.

Acta Myol. 2013 Oct;32(2):95-9.

17.

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.

Nilsson MI, Kroos MA, Reuser AJ, Hatcher E, Akhtar M, McCready ME, Tarnopolsky MA.

Gene. 2014 Mar 1;537(1):41-5. doi: 10.1016/j.gene.2013.12.033. Epub 2013 Dec 30.

PMID:
24384324
18.

Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.

Goldstein JL, Dickerson G, Kishnani PS, Rehder C, Bali DS.

Muscle Nerve. 2014 May;49(5):775-6. doi: 10.1002/mus.24149. No abstract available.

PMID:
24338800
19.

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation.

Peric S, Fumic K, Bilic K, Reuser A, Rakocevic Stojanovic V.

Acta Neurol Belg. 2014 Jun;114(2):165-6. doi: 10.1007/s13760-013-0265-8. Epub 2013 Dec 12. No abstract available.

PMID:
24338761
20.

Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice.

Elmallah MK, Falk DJ, Nayak S, Federico RA, Sandhu MS, Poirier A, Byrne BJ, Fuller DD.

Mol Ther. 2014 Apr;22(4):702-12. doi: 10.1038/mt.2013.282. Epub 2013 Dec 12.

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