198 related articles for article (PubMed ID: 29371640)
1. Clinical utility gene card for McArdle disease.
Taylor RL; Davis M; Turner E; Brull A; Pinos T; Cabrera M; Nowak KJ
Eur J Hum Genet; 2018 May; 26(5):758-764. PubMed ID: 29371640
[TBL] [Abstract][Full Text] [Related]
2. McArdle disease: molecular genetic update.
Andreu AL; Nogales-Gadea G; Cassandrini D; Arenas J; Bruno C
Acta Myol; 2007 Jul; 26(1):53-7. PubMed ID: 17915571
[TBL] [Abstract][Full Text] [Related]
3. Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.
Nogales-Gadea G; Pinós T; Lucia A; Arenas J; Camara Y; Brull A; de Luna N; Martín MA; Garcia-Arumí E; Martí R; Andreu AL
Brain; 2012 Jul; 135(Pt 7):2048-57. PubMed ID: 22730558
[TBL] [Abstract][Full Text] [Related]
4. Genes and exercise intolerance: insights from McArdle disease.
Nogales-Gadea G; Godfrey R; Santalla A; Coll-Cantí J; Pintos-Morell G; Pinós T; Arenas J; Martín MA; Lucia A
Physiol Genomics; 2016 Feb; 48(2):93-100. PubMed ID: 26465709
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 28967462
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 25240406
[TBL] [Abstract][Full Text] [Related]
7. The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology.
Migocka-Patrzałek M; Lewicka A; Elias M; Daczewska M
Int J Biochem Cell Biol; 2020 Jan; 118():105658. PubMed ID: 31747538
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 15262743
[TBL] [Abstract][Full Text] [Related]
9. The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
Nogales-Gadea G; Santalla A; Brull A; de Luna N; Lucia A; Pinós T
J Inherit Metab Dis; 2015 Mar; 38(2):221-30. PubMed ID: 25053163
[TBL] [Abstract][Full Text] [Related]
10. McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.
Llavero F; Arrazola Sastre A; Luque Montoro M; Gálvez P; Lacerda HM; Parada LA; Zugaza JL
Int J Mol Sci; 2019 Nov; 20(23):. PubMed ID: 31775340
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17221871
[TBL] [Abstract][Full Text] [Related]
12. Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
García-Consuegra I; Asensio-Peña S; Garrido-Moraga R; Pinós T; Domínguez-González C; Santalla A; Nogales-Gadea G; Serrano-Lorenzo P; Andreu AL; Arenas J; Zugaza JL; Lucia A; Martín MA
Int J Mol Sci; 2022 Apr; 23(9):. PubMed ID: 35563042
[TBL] [Abstract][Full Text] [Related]
13. [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].
Delmont E; Sacconi S; Berge-Lefranc JL; Aquaron R; Butori C; Desnuelle C
Rev Neurol (Paris); 2008 Nov; 164(11):912-6. PubMed ID: 18808785
[TBL] [Abstract][Full Text] [Related]
14. McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G; Brull A; Santalla A; Andreu AL; Arenas J; Martín MA; Lucia A; de Luna N; Pinós T
Hum Mutat; 2015 Jul; 36(7):669-78. PubMed ID: 25914343
[TBL] [Abstract][Full Text] [Related]
15. Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
McNamara EL; Taylor RL; Clayton JS; Goullee H; Dilworth KL; Pinós T; Brull A; Alexander IE; Lisowski L; Ravenscroft G; Laing NG; Nowak KJ
Hum Mol Genet; 2020 Jan; 29(1):20-30. PubMed ID: 31511858
[TBL] [Abstract][Full Text] [Related]
16. Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease.
Lorenzoni PJ; Werneck LC; Kay CSK; Arndt RC; Silvado CES; Scola RH
Acta Neurol Belg; 2020 Apr; 120(2):303-311. PubMed ID: 30415384
[TBL] [Abstract][Full Text] [Related]
17. Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J; Ballester-Lopez A; Koehorst E; Linares-Pardo I; Coenen D; Ara I; Rodriguez-Lopez C; Ramos-Fransi A; Martínez-Piñeiro A; Lucente G; Almendrote M; Coll-Cantí J; Pintos-Morell G; Santos-Lozano A; Arenas J; Martín MA; de Castro M; Lucia A; Santalla A; Nogales-Gadea G
J Inherit Metab Dis; 2018 Nov; 41(6):1027-1035. PubMed ID: 29926259
[TBL] [Abstract][Full Text] [Related]
18. Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene.
Jiang WZ; Xu YW; Wang YW; Zhu XC; Gong YY; Zhou HW; Fu ZZ
Yi Chuan; 2022 Nov; 44(11):1063-1071. PubMed ID: 36384998
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 21880526
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]