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Items: 1 to 20 of 101

1.

Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

Garcia-Consuegra I, Blázquez A, Rubio JC, Arenas J, Ballester-Lopez A, González-Quintana A, Andreu AL, Pinós T, Coll-Cantí J, Lucia A, Nogales-Gadea G, Martín MA.

Genet Med. 2016 Nov;18(11):1128-1135. doi: 10.1038/gim.2015.219. Epub 2016 Feb 25.

PMID:
26913921
2.

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, Cabello A, Garcia-Arumi E, Arenas J, Andreu AL, Martín MA.

Hum Mutat. 2008 Feb;29(2):277-83.

PMID:
17994553
3.

A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay.

Sohn EH, Kim HS, Lee AY, Fukuda T, Sugie H, Kim DS.

Neuromuscul Disord. 2008 Nov;18(11):886-9. doi: 10.1016/j.nmd.2008.06.384. Epub 2008 Jul 29.

PMID:
18667317
4.

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Martí R, Andreu AL, Pinós T.

Neuromuscul Disord. 2014 Dec;24(12):1079-86. doi: 10.1016/j.nmd.2014.08.002. Epub 2014 Aug 21.

PMID:
25240406
5.

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.

García-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA.

J Med Genet. 2009 Mar;46(3):198-202. doi: 10.1136/jmg.2008.059469.

PMID:
19251976
6.

Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon.

Birch KE, Quinlivan RM, Morris GE.

Neuromuscul Disord. 2013 Jan;23(1):43-51. doi: 10.1016/j.nmd.2012.06.348. Epub 2012 Jul 20.

PMID:
22818872
7.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA.

Hum Genet. 2009 Apr;125(3):342. No abstract available.

PMID:
19320015
8.

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Inal-Gültekin G, Toptaş-Hekimoğlu B, Görmez Z, Gelişin Ö, Durmuş H, Ergüner B, Demirci H, Sağıroğlu MŞ, Parman Y, Deymeer F, Yılmaz-Aydoğan H, Pençe S, Bekircan-Kurt CE, Tan E, Erdem-Özdamar S, Üstek D, Giger U, Öztürk O, Serdaroğlu-Oflazer P.

Neuromuscul Disord. 2017 Nov;27(11):997-1008. doi: 10.1016/j.nmd.2017.06.004. Epub 2017 Jun 16.

9.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, San Millán B, Navarro C.

Hum Genet. 2009 Apr;125(3):349. No abstract available.

PMID:
19320035
10.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):343. No abstract available.

PMID:
19320018
11.

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, Andreu AL, Arenas J, Martin MA.

Hum Mutat. 2007 Feb;28(2):203-4.

PMID:
17221871
12.

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.

Quintans B, Sanchez-Andrade A, Teijeira S, Fernandez-Hojas R, Rivas E, López MJ, Navarro C.

Arch Neurol. 2004 Jul;61(7):1108-10.

PMID:
15262743
13.

Missense mutations have unexpected consequences: The McArdle disease paradigm.

García-Consuegra I, Asensio-Peña S, Ballester-Lopez A, Francisco-Velilla R, Pinos T, Pintos-Morell G, Coll-Cantí J, González-Quintana A, Andreu AL, Arenas J, Lucia A, Nogales-Gadea G, Martín MA.

Hum Mutat. 2018 Oct;39(10):1338-1343. doi: 10.1002/humu.23591. Epub 2018 Jul 26.

PMID:
30011114
14.

McArdle disease: molecular genetic update.

Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C.

Acta Myol. 2007 Jul;26(1):53-7. Review.

15.

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.

Wu Y, Weber JL, Vladutiu GD, Tarnopolsky MA.

Mol Genet Metab. 2011 Dec;104(4):587-91. doi: 10.1016/j.ymgme.2011.08.012. Epub 2011 Aug 16. Erratum in: Mol Genet Metab. 2014 Apr;111(4):539.

PMID:
21880526
16.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Otolano S, Parente P, San Millán B, Navarro C.

Hum Genet. 2009 Apr;125(3):352. No abstract available.

PMID:
19320040
17.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):339. No abstract available.

PMID:
19309786
18.

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.

Deschauer M, Hertel K, Zierz S.

Muscle Nerve. 2003 Jan;27(1):105-7.

PMID:
12508303
19.

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C.

Hum Mutat. 2006 Jul;27(7):718.

PMID:
16786513
20.

High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.

Duno M, Quinlivan R, Vissing J, Schwartz M.

Ann Hum Genet. 2009 May;73(Pt 3):292-7.

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