244 related articles for article (PubMed ID: 35052414)
61. 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. PubMed ID: 19251976
[TBL] [Abstract][Full Text] [Related]
62. [Suspect McArdle disease in muscular pain! A simple test for the detection of glycogen breakdown defect].
Flodmark BT; Ockander L
Lakartidningen; 1995 May; 92(19):2020-3. PubMed ID: 7752745
[No Abstract] [Full Text] [Related]
63. 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. PubMed ID: 26913921
[TBL] [Abstract][Full Text] [Related]
64. 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]
65. 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. PubMed ID: 16786513
[TBL] [Abstract][Full Text] [Related]
66. PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.
Carvalho AAS; Christofolini DM; Perez MM; Alves BCA; Rodart I; Figueiredo FWS; Turke KC; Feder D; Junior MCF; Nucci AM; Fonseca FLA
PLoS One; 2020; 15(7):e0236597. PubMed ID: 32735634
[TBL] [Abstract][Full Text] [Related]
67. A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.
Nogales-Gadea G; Consuegra-García I; Rubio JC; Arenas J; Cuadros M; Camara Y; Torres-Torronteras J; Fiuza-Luces C; Lucia A; Martín MA; García-Arumí E; Andreu AL
PLoS One; 2012; 7(2):e31718. PubMed ID: 22347505
[TBL] [Abstract][Full Text] [Related]
68. McArdle disease presenting as acute renal failure.
Pillarisetti J; Ahmed A
South Med J; 2007 Mar; 100(3):313-6. PubMed ID: 17396739
[TBL] [Abstract][Full Text] [Related]
69. 211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.
Quinlivan R; Andreu AL; Marti R;
Neuromuscul Disord; 2017 Dec; 27(12):1143-1151. PubMed ID: 29079393
[No Abstract] [Full Text] [Related]
70. McArdle's disease-muscle glycogen phosphorylase deficiency.
Bartram C; Edwards RH; Beynon RJ
Biochim Biophys Acta; 1995 Aug; 1272(1):1-13. PubMed ID: 7662715
[No Abstract] [Full Text] [Related]
71. High prevalence of paraspinal muscle involvement in adults with McArdle disease.
Álvarez-Velasco R; Nuñez-Peralta CA; Alonso-Pérez J; Gallardo E; Collet-Vidiella R; Reyes-Leiva D; Pascual-Goñi E; Martín-Aguilar L; Caballero-Ávila M; Carbayo-Viejo Á; Llauger-Roselló J; Díaz-Manera J; Olivé M
Muscle Nerve; 2022 May; 65(5):568-573. PubMed ID: 35174518
[TBL] [Abstract][Full Text] [Related]
72. Emotionally-intense situations can result in rhabdomyolysis in McArdle disease.
Brady S; Godfrey R; Scalco RS; Quinlivan RM
BMJ Case Rep; 2014 Oct; 2014():. PubMed ID: 25293680
[TBL] [Abstract][Full Text] [Related]
73. 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. PubMed ID: 22818872
[TBL] [Abstract][Full Text] [Related]
74. [Myalgia during warming-up in a 12-year-old boy].
Koenraads M; den Boer JA; Kerkhoff H; Sas TC
Ned Tijdschr Geneeskd; 2011; 155():A2668. PubMed ID: 21527049
[TBL] [Abstract][Full Text] [Related]
75. The phenotypic and genotypic features of a Scottish cohort with McArdle disease.
Gandhi SE; Longman C; Petty RKH; Brennan KM; Stewart W; Kinch K; Töpf A; Straub V; Quinlivan R; Farrugia ME
Neuromuscul Disord; 2021 Aug; 31(8):695-700. PubMed ID: 34215481
[TBL] [Abstract][Full Text] [Related]
76. 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]
77. Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Villarreal-Salazar M; Santalla A; Real-Martínez A; Nogales-Gadea G; Valenzuela PL; Fiuza-Luces C; Andreu AL; Rodríguez-Aguilera JC; Martín MA; Arenas J; Vissing J; Lucia A; Krag TO; Pinós T
Mol Metab; 2022 Dec; 66():101648. PubMed ID: 36455789
[TBL] [Abstract][Full Text] [Related]
78. 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]
79. Glycogen storage disease type V (Mc Ardle's disease): a report on three cases.
Krishnamoorthy N; Santosh V; Yasha TC; Mahadevan A; Shankar SK; Jethwani D; Taly AB; Bhanu K; Gayathri N
Neurol India; 2011; 59(6):884-6. PubMed ID: 22234204
[TBL] [Abstract][Full Text] [Related]
80.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
