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Items: 1 to 20 of 68

1.

Heart rate and perceived muscle pain responses to a functional walking test in McArdle disease.

Buckley JP, Quinlivan RM, Sim J, Eston RG, Short DS.

J Sports Sci. 2014;32(16):1561-9. doi: 10.1080/02640414.2014.906045. Epub 2014 Apr 14.

PMID:
24731154
2.

Severe axial myopathy in McArdle disease.

Witting N, Duno M, Piraud M, Vissing J.

JAMA Neurol. 2014 Jan;71(1):88-90. doi: 10.1001/jamaneurol.2013.3209.

PMID:
24216972
3.

McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature.

Bollig G.

Paediatr Anaesth. 2013 Sep;23(9):817-23. doi: 10.1111/pan.12164. Epub 2013 Apr 9. Review.

PMID:
23565573
4.

Unforeseen cardiac involvement in McArdle's disease.

Moustafa S, Patton DJ, Connelly MS.

Heart Lung Circ. 2013 Sep;22(9):769-71. doi: 10.1016/j.hlc.2012.12.004. Epub 2013 Jan 18.

PMID:
23337261
5.

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. doi: 10.1093/brain/aws141. Epub 2012 Jun 21.

PMID:
22730558
6.

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy.

Sato S, Ohi T, Nishino I, Sugie H.

Muscle Nerve. 2012 Mar;45(3):436-40. doi: 10.1002/mus.22290.

PMID:
22334182
7.

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I, Cabello A, Pérez M, Teijeira S, Vieitez I, Navarro C, Arenas J, Martin MA, Andreu AL.

J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):322-8. doi: 10.1136/jnnp-2011-301593. Epub 2012 Jan 16.

PMID:
22250184
8.

Physical training for McArdle disease.

Quinlivan R, Vissing J, Hilton-Jones D, Buckley J.

Cochrane Database Syst Rev. 2011 Dec 7;(12):CD007931. doi: 10.1002/14651858.CD007931.pub2. Review.

PMID:
22161416
9.

Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.

Vieitez I, Teijeira S, Fernandez JM, San Millan B, Miranda S, Ortolano S, Louis S, Laforet P, Navarro C.

Neuromuscul Disord. 2011 Dec;21(12):817-23. doi: 10.1016/j.nmd.2011.07.002. Epub 2011 Jul 29.

PMID:
21802952
10.

McArdle disease: a clinical review.

Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, Winer J, Rose M, Sewry C.

J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1182-8. doi: 10.1136/jnnp.2009.195040. Epub 2010 Sep 22.

PMID:
20861058
11.

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
12.

Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity.

Andersen ST, Vissing J.

J Neurol Neurosurg Psychiatry. 2008 Dec;79(12):1359-63. doi: 10.1136/adc.2008.146548. Erratum in: J Neurol Neurosurg Psychiatry. 2010 Dec;81(12)1414.

PMID:
19010947
13.

McArdle disease: what do neurologists need to know?

Lucia A, Nogales-Gadea G, Pérez M, Martín MA, Andreu AL, Arenas J.

Nat Clin Pract Neurol. 2008 Oct;4(10):568-77. doi: 10.1038/ncpneuro0913. Review.

PMID:
18833216
14.

Effect of oral sucrose shortly before exercise on work capacity in McArdle disease.

Andersen ST, Haller RG, Vissing J.

Arch Neurol. 2008 Jun;65(6):786-9. doi: 10.1001/archneur.65.6.786.

PMID:
18541798
15.

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

Quinlivan R, Beynon RJ, Martinuzzi A.

Cochrane Database Syst Rev. 2008 Apr 16;(2):CD003458. doi: 10.1002/14651858.CD003458.pub3. Review. Update in: Cochrane Database Syst Rev. 2010;(12):CD003458.

PMID:
18425888
16.

Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle's disease: expression and re-expression of glycogen phosphorylase.

Howell JM, Walker KR, Davies L, Dunton E, Everaardt A, Laing N, Karpati G.

Neuromuscul Disord. 2008 Mar;18(3):248-58. doi: 10.1016/j.nmd.2007.10.006. Epub 2008 Mar 14.

PMID:
18343113
17.

Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease.

Martinuzzi A, Liava A, Trevisi E, Frare M, Tonon C, Malucelli E, Manners D, Kemp GJ, Testa C, Barbiroli B, Lodi R.

Muscle Nerve. 2008 Mar;37(3):350-7.

PMID:
18098237
18.

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
19.

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.

20.

Exercise capacity in a child with McArdle disease.

Pérez M, Maté-Muñoz JL, Foster C, Rubio JC, Andreu AL, Martín MA, Arenas J, Lucia A.

J Child Neurol. 2007 Jul;22(7):880-2.

PMID:
17715283

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