-
1
-
-
44949247062
-
-
Beynon 1998 {unpublished data only} Beynon RJ, Quinlivan RCM, Hopkins P, White L, Bartram C, Phoenix J. McArdle's Disease: molecular genetics, clinical heterogeneity and a therapeutic trial. Muscle & Nerve. 1998; S30.
-
Beynon 1998 {unpublished data only} Beynon RJ, Quinlivan RCM, Hopkins P, White L, Bartram C, Phoenix J. McArdle's Disease: molecular genetics, clinical heterogeneity and a therapeutic trial. Muscle & Nerve. 1998; Vol. S30.
-
-
-
-
2
-
-
0022399260
-
-
Day 1985 {published data only} Day T J, Mastaglia F L. Depot-glucagon in the treatment of McArdle's disease. Australian and New Zealand Journal of Medicine 1985;15(6):748-50.
-
Day 1985 {published data only} Day T J, Mastaglia F L. Depot-glucagon in the treatment of McArdle's disease. Australian and New Zealand Journal of Medicine 1985;15(6):748-50.
-
-
-
-
3
-
-
0025363845
-
-
Kushner 1990 {published data only} Kushner R F, Berman S A. Are high-protein diets effective in McArdle's Disease. Archives of Neurology 1990;47(4):383-4.
-
Kushner 1990 {published data only} Kushner R F, Berman S A. Are high-protein diets effective in McArdle's Disease. Archives of Neurology 1990;47(4):383-4.
-
-
-
-
4
-
-
0022545401
-
-
Lane 1986 {published data only} Lane R J, Turnbull D, Welch J, Walton JL. A double-blind crossover study of verapamil in exertional muscle pain. Muscle & Nerve 1986;9(7):635-41.
-
Lane 1986 {published data only} Lane R J, Turnbull D, Welch J, Walton JL. A double-blind crossover study of verapamil in exertional muscle pain. Muscle & Nerve 1986;9(7):635-41.
-
-
-
-
5
-
-
0031743795
-
1998 {published data only} MacLean D, Vissing J, Vissing S F, Haller RG. Oral branched chain amino acids do not improve exercise capacity in McArdle's disease
-
MacLean
-
MacLean 1998 {published data only} MacLean D, Vissing J, Vissing S F, Haller RG. Oral branched chain amino acids do not improve exercise capacity in McArdle's disease. Neurology 1998;51(5):1456-9.
-
(1998)
Neurology
, vol.51
, Issue.5
, pp. 1456-1459
-
-
-
6
-
-
34548602300
-
2007 {published data only} A Martinuzzi, A Liava, E Trevisi, L Antoniazzi, M Frare. Chronic therapy for McArdle disease: The randomized controlled trial with ACE inhibitor
-
Martinuzzi 2007 {published data only} A Martinuzzi, A Liava, E Trevisi, L Antoniazzi, M Frare. Chronic therapy for McArdle disease: the randomized controlled trial with ACE inhibitor. Acta Myologica 2007;26(1):64-66.
-
(2007)
Acta Myologica
, vol.26
, Issue.1
, pp. 64-66
-
-
Martinuzzi1
-
7
-
-
0025677335
-
-
Poels 1990 {published data only} Poels PJ, Braakhekke JP, Joosten EM, Stegeman DF. Dantrolene sodium does influence the second wind phenomenon in McArdle's disease. Electrophysioloical evidence during exercise in a double-blind placebo-controlled, cross-over study in 5 patients. Journal of the Neurological Sciences 1990;100(1-2):108-12.
-
Poels 1990 {published data only} Poels PJ, Braakhekke JP, Joosten EM, Stegeman DF. Dantrolene sodium does influence the second wind phenomenon in McArdle's disease. Electrophysioloical evidence during exercise in a double-blind placebo-controlled, cross-over study in 5 patients. Journal of the Neurological Sciences 1990;100(1-2):108-12.
-
-
-
-
8
-
-
0029874838
-
-
Steele 1996 {published data only} Steele I C, Patterson V H, Nicholls D P. A double-blind, placebo controlled, crossover trial of D-ribose in McArdle's disease. Journal of the Neurological Sciences 1996;136(1-2):174-7.
-
Steele 1996 {published data only} Steele I C, Patterson V H, Nicholls D P. A double-blind, placebo controlled, crossover trial of D-ribose in McArdle's disease. Journal of the Neurological Sciences 1996;136(1-2):174-7.
-
-
-
-
9
-
-
0347517831
-
-
Vissing 2003 {published data only} *Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. New England Journal of Medicine 2003;349:2503-9.
-
Vissing 2003 {published data only} *Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. New England Journal of Medicine 2003;349:2503-9.
-
-
-
-
10
-
-
34249321269
-
-
Vissing 2007 {unpublished data only} *Vissing J, Quinlivan R. 144th ENMC International Workshop: Outcome Measures in McArdle Disease, 29 September-1 November 2006, Naarden, The Netherlands. Neuromuscular Disorders 2007;17(6):494-8.
-
Vissing 2007 {unpublished data only} *Vissing J, Quinlivan R. 144th ENMC International Workshop: Outcome Measures in McArdle Disease, 29 September-1 November 2006, Naarden, The Netherlands. Neuromuscular Disorders 2007;17(6):494-8.
-
-
-
-
11
-
-
0033924202
-
-
Vorgerd 2000 {published data only} Vorgerd M, Grehl T, Jager M, Muller K, Freitag G, Patzold T, et al.Creatine therapy in myophosphorylase deficiency (McArdle's disease) A placebo controlled crossover trial. Archives of Neurology 2000;57(7):956-63.
-
Vorgerd 2000 {published data only} Vorgerd M, Grehl T, Jager M, Muller K, Freitag G, Patzold T, et al.Creatine therapy in myophosphorylase deficiency (McArdle's disease) A placebo controlled crossover trial. Archives of Neurology 2000;57(7):956-63.
-
-
-
-
12
-
-
0036144373
-
-
Vorgerd 2002 {published data only} Vorgerd M, Zange J, Kley R, Grehl T, Husing A, Jager M, et al.Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle's disease: double-blind, placebo-controlled crossover study. Archives of Neurology 2002;59(1):97-101.
-
Vorgerd 2002 {published data only} Vorgerd M, Zange J, Kley R, Grehl T, Husing A, Jager M, et al.Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle's disease: double-blind, placebo-controlled crossover study. Archives of Neurology 2002;59(1):97-101.
-
-
-
-
13
-
-
23244460225
-
-
Busch 2005 Busch V, Gempel K, Hack A, Muller K, Vorgerd M, Lochmuller H, et al.Treatment of glycogenosis type V with ketogenic diet. Annals of Neurology 2005;58(2):341.
-
Busch 2005 Busch V, Gempel K, Hack A, Muller K, Vorgerd M, Lochmuller H, et al.Treatment of glycogenosis type V with ketogenic diet. Annals of Neurology 2005;58(2):341.
-
-
-
-
14
-
-
0036716959
-
-
Haller 2002 Haller RG, Vissing J. Spontaneous second wind and glucose-in-duced second wind in McArdle disease. Archives of Neurology 2002;59(9):1395-402.
-
Haller 2002 Haller RG, Vissing J. Spontaneous "second wind" and glucose-in-duced "second wind" in McArdle disease. Archives of Neurology 2002;59(9):1395-402.
-
-
-
-
15
-
-
0025313653
-
-
Jensen 1990 Jensen K E, J Jacobson, Thomsen C, Henriksen O. Improved energy kinetics following high protein diet in McArdle's syndrome. A 31P magnetic resonance spectroscopy study. Acta Neurologica Scandinavica 1990;81(6):499-503.
-
Jensen 1990 Jensen K E, J Jacobson, Thomsen C, Henriksen O. Improved energy kinetics following high protein diet in McArdle's syndrome. A 31P magnetic resonance spectroscopy study. Acta Neurologica Scandinavica 1990;81(6):499-503.
-
-
-
-
16
-
-
0021210638
-
-
Kono 1984 Kono N, Mineo I, Sumi S, Shimizu T, Kang J, Nonaka K, et al.Metabolic basis of improved exercise tolerance: Muscle phosphorylase deficiency after glucagon administration. Neurology 1984;34(11): 1471-76.
-
Kono 1984 Kono N, Mineo I, Sumi S, Shimizu T, Kang J, Nonaka K, et al.Metabolic basis of improved exercise tolerance: Muscle phosphorylase deficiency after glucagon administration. Neurology 1984;34(11): 1471-76.
-
-
-
-
17
-
-
0022339474
-
-
Lewis 1985 Lewis SL, Haller RG, Cook JD, Nunnally RL. Muscle fatigue in McArdle's disease studied by 31P-NMR: effect of glucose infusion. Journal of Applied Physiology 1985;59(6):1991-94.
-
Lewis 1985 Lewis SL, Haller RG, Cook JD, Nunnally RL. Muscle fatigue in McArdle's disease studied by 31P-NMR: effect of glucose infusion. Journal of Applied Physiology 1985;59(6):1991-94.
-
-
-
-
18
-
-
0021146763
-
-
Mineo 1984 Mineo I, Kono N, Shimizu T, Sumi S, Nonaka K, Tarui S. A comparative study on glucagon effect between McArdle disease and Tarui disease. Muscle & Nerve 1984;7(7):552-9.
-
Mineo 1984 Mineo I, Kono N, Shimizu T, Sumi S, Nonaka K, Tarui S. A comparative study on glucagon effect between McArdle disease and Tarui disease. Muscle & Nerve 1984;7(7):552-9.
-
-
-
-
19
-
-
0037958488
-
-
O'Reilly 2003 O'Reilly D S, Carter R, Bell E, Hinnie J, Galloway P J. Exercise to exhaustion in the second-wind phase of exercise in case of McArdle's disease with and without creatine supplementation. Scottish Medical Journal 2003;48(2):46-8.
-
O'Reilly 2003 O'Reilly D S, Carter R, Bell E, Hinnie J, Galloway P J. Exercise to exhaustion in the second-wind phase of exercise in case of McArdle's disease with and without creatine supplementation. Scottish Medical Journal 2003;48(2):46-8.
-
-
-
-
20
-
-
0032078665
-
-
Phoenix 1998 *Phoenix J, Hopkins P, Bartram C, Beynon R, Quinlivan RCM, Edwards RHT. Effect of vitamin B6 supplementation in McArdle's disease: a strategic case study. Neuromuscular Disorders 1998;8(3-4):210-12.
-
Phoenix 1998 *Phoenix J, Hopkins P, Bartram C, Beynon R, Quinlivan RCM, Edwards RHT. Effect of vitamin B6 supplementation in McArdle's disease: a strategic case study. Neuromuscular Disorders 1998;8(3-4):210-12.
-
-
-
-
21
-
-
33644889412
-
-
Schroers 2006 Schroers A, Kley R, Stachon A, Horvath R, Lochmuller H, Gange J, et al.Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency. Neurology 2006;66(2):285-6.
-
Schroers 2006 Schroers A, Kley R, Stachon A, Horvath R, Lochmuller H, Gange J, et al.Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency. Neurology 2006;66(2):285-6.
-
-
-
-
22
-
-
0021945881
-
-
Slonim 1985 Slonim A E, Goans PJ. Myopathy in McArdle's syndrome: improvement with a high protein diet. New England Journal of Medicine 1985;312(6):355-59.
-
Slonim 1985 Slonim A E, Goans PJ. Myopathy in McArdle's syndrome: improvement with a high protein diet. New England Journal of Medicine 1985;312(6):355-59.
-
-
-
-
23
-
-
0016795179
-
-
Viskoper 1975 Viskoper R, Wolf E, Chaco J, Katz R, Chowers I. McArdle's syndrome: the reaction to a fat rich diet. American Journal of Medical Sciences 1975;269(2):217-21.
-
Viskoper 1975 Viskoper R, Wolf E, Chaco J, Katz R, Chowers I. McArdle's syndrome: the reaction to a fat rich diet. American Journal of Medical Sciences 1975;269(2):217-21.
-
-
-
-
24
-
-
34548625973
-
-
Vorgerd 2007 *Vorgerd M, Zange J. Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle. Acta Myologica 2007;26(2):61-3.
-
Vorgerd 2007 *Vorgerd M, Zange J. Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle. Acta Myologica 2007;26(2):61-3.
-
-
-
-
25
-
-
0026063834
-
-
Wagner 1991 Wagner D R, Zollner N. McCardle's disease: successful symptomatic therapy by high dose oral administration of ribose. Klinische Wochenschrift 1991;69(2):92.
-
Wagner 1991 Wagner D R, Zollner N. McCardle's disease: successful symptomatic therapy by high dose oral administration of ribose. Klinische Wochenschrift 1991;69(2):92.
-
-
-
-
26
-
-
34548615760
-
-
Andreu 2007 Andreu A, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C. McArdle disease: molecular genetic update. Acta Myologica 2007;26(1):53-7.
-
Andreu 2007 Andreu A, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C. McArdle disease: molecular genetic update. Acta Myologica 2007;26(1):53-7.
-
-
-
-
27
-
-
0032720705
-
-
Barton-Davis 1999 Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycodise antibiotics restore dystrophin function to skeletal muscles of mdx mice. The Journal of Clinical Investigation 1999;104(4):375-381.
-
Barton-Davis 1999 Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycodise antibiotics restore dystrophin function to skeletal muscles of mdx mice. The Journal of Clinical Investigation 1999;104(4):375-381.
-
-
-
-
28
-
-
0027302919
-
-
Bartram 1993 Bartram C, Edwards RHT, Clague J, Beynon R. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Human Molecular Genetics 1993;2(8):1291-93.
-
Bartram 1993 Bartram C, Edwards RHT, Clague J, Beynon R. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Human Molecular Genetics 1993;2(8):1291-93.
-
-
-
-
29
-
-
0020030077
-
-
Bertorini 1982 Bertorini T, Palmieri G, Bhattacharya S. Beneficial effects of Dantrolene sodium in exercise-induced muscle pains: calcium mediated?. Lancet 1982;1(8272):616-17.
-
Bertorini 1982 Bertorini T, Palmieri G, Bhattacharya S. Beneficial effects of Dantrolene sodium in exercise-induced muscle pains: calcium mediated?. Lancet 1982;1(8272):616-17.
-
-
-
-
30
-
-
0028998401
-
-
Beynon 1995 Beynon RJ, Bartram C, Hopkins P, Toesco V, Gibson H, Phoenix J, et al.McArdle's disease: molecular genetics andmetabolic consequences of the phenotype. Muscle & Nerve 1995;3:S18-22.
-
Beynon 1995 Beynon RJ, Bartram C, Hopkins P, Toesco V, Gibson H, Phoenix J, et al.McArdle's disease: molecular genetics andmetabolic consequences of the phenotype. Muscle & Nerve 1995;3:S18-22.
-
-
-
-
31
-
-
0020410785
-
-
Borg 1982 Borg GAV. Psychophysical basis for perceived exertion. Medicine and Science in Sports and Exercise 1982;14:377-81.
-
Borg 1982 Borg GAV. Psychophysical basis for perceived exertion. Medicine and Science in Sports and Exercise 1982;14:377-81.
-
-
-
-
32
-
-
0029863576
-
-
De Stefano 1996 De Stefano N, Argov Z, Matthews PM, Karpati G, Arnold DL. Impairment of muscle mitochondrial oxidative metabolism in McArdle's disease. Muscle & Nerve 1996;19(6):764-69.
-
De Stefano 1996 De Stefano N, Argov Z, Matthews PM, Karpati G, Arnold DL. Impairment of muscle mitochondrial oxidative metabolism in McArdle's disease. Muscle & Nerve 1996;19(6):764-69.
-
-
-
-
33
-
-
44949192602
-
-
Gomez-Gallego 2007 Gomez-Gallego F, Santiago C, Moran M, Perez M, Mate-Munoz JL, Fernandez Del Valle M, et al.The I allele of the ACE gene is associated with improvement in exercise capacity in women with McArdle disease. British Journal of Sports Medicine 2007 Jul 6;Epub ahead of print.
-
Gomez-Gallego 2007 Gomez-Gallego F, Santiago C, Moran M, Perez M, Mate-Munoz JL, Fernandez Del Valle M, et al.The I allele of the ACE gene is associated with improvement in exercise capacity in women with McArdle disease. British Journal of Sports Medicine 2007 Jul 6;Epub ahead of print.
-
-
-
-
34
-
-
0020681111
-
-
Haller 1983 Haller R G, Dempsey W B, Feit H, Cook J D, Knochel JP. Low levels ofmuscle pyridoxine in McArdle's syndrome. American Journal of Medicine 1983;74(2):217-20.
-
Haller 1983 Haller R G, Dempsey W B, Feit H, Cook J D, Knochel JP. Low levels ofmuscle pyridoxine in McArdle's syndrome. American Journal of Medicine 1983;74(2):217-20.
-
-
-
-
35
-
-
44949181558
-
-
Kubisch 1998 Kubisch C, Wicklein EM, Jentsch TJ. Molecular diagnosis of McArdle's disease: revised genomic structure of the phosphorylase gene and identification of a novel mutation. Human Mutation 1998;43:1355-60.
-
Kubisch 1998 Kubisch C, Wicklein EM, Jentsch TJ. Molecular diagnosis of McArdle's disease: revised genomic structure of the phosphorylase gene and identification of a novel mutation. Human Mutation 1998;43:1355-60.
-
-
-
-
36
-
-
0032250108
-
-
Libonati 1998 Libonati JR, Cox M, Incanno N, Melville SK, Musante FC, Glassberg HL, et al.Brief periods of occlusion and re-perfusion increase skeletal muscle force output in humans. Cardiologia 1998;43(12): 1355-60.
-
Libonati 1998 Libonati JR, Cox M, Incanno N, Melville SK, Musante FC, Glassberg HL, et al.Brief periods of occlusion and re-perfusion increase skeletal muscle force output in humans. Cardiologia 1998;43(12): 1355-60.
-
-
-
-
37
-
-
34447097837
-
-
Lucia 2007 Lucia A, Gomez-Gallego F, Santiago C, Perez M, Mate-Munoz JL, Chamorro-Vina C, et al.The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Neuromuscular Disorders 2007;17(8):603-10.
-
Lucia 2007 Lucia A, Gomez-Gallego F, Santiago C, Perez M, Mate-Munoz JL, Chamorro-Vina C, et al.The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Neuromuscular Disorders 2007;17(8):603-10.
-
-
-
-
38
-
-
0037379666
-
-
Martinuzzi 2003 Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, et al.Phenotype modulators in myophosphorylase deficiency. Annals of Neurology 2003;53(4):497-502.
-
Martinuzzi 2003 Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, et al.Phenotype modulators in myophosphorylase deficiency. Annals of Neurology 2003;53(4):497-502.
-
-
-
-
39
-
-
84924923845
-
McArdle B. Myopathy due to a defect inmuscle glycogen breakdown
-
McArdle
-
McArdle 1951 McArdle B. Myopathy due to a defect inmuscle glycogen breakdown. Clinical Science 1951;10:13-33.
-
(1951)
Clinical Science
, vol.1951
, Issue.10
, pp. 13-33
-
-
-
40
-
-
44949153230
-
-
Mommaerts 1959 Mommaerts WFH, Illingworth B, Pearson CM, Guilorg RJ, Seraydarian K. A functional disorder of muscle associated with the absence of phosphorylase. Proceedings of the National Academy of Science USA 1959;3:18-22.
-
Mommaerts 1959 Mommaerts WFH, Illingworth B, Pearson CM, Guilorg RJ, Seraydarian K. A functional disorder of muscle associated with the absence of phosphorylase. Proceedings of the National Academy of Science USA 1959;3:18-22.
-
-
-
-
41
-
-
0005463427
-
-
Pearson 1961 Pearson CM, Rimor DG, Mommaerts WFHM. Ametabolic myopathy due to absence of muscle phosphorylase. The American Journal of Medicine 1961;30:502-17.
-
Pearson 1961 Pearson CM, Rimor DG, Mommaerts WFHM. Ametabolic myopathy due to absence of muscle phosphorylase. The American Journal of Medicine 1961;30:502-17.
-
-
-
-
42
-
-
34447509255
-
-
Rubio 2007 Rubio JC, Gomez-Gallego F, Santiago C, Garcia-Consuegra I, Perez M, Barriopedro MI, et al.Genotype modulators of clinical severity in McArdle disease. Neuroscience Letters 2007;422(3):217-222.
-
Rubio 2007 Rubio JC, Gomez-Gallego F, Santiago C, Garcia-Consuegra I, Perez M, Barriopedro MI, et al.Genotype modulators of clinical severity in McArdle disease. Neuroscience Letters 2007;422(3):217-222.
-
-
-
-
43
-
-
0031614593
-
-
Ruff 1998 Ruff RL. Why do patients with McArdle's disease have decreased exercise capacity?. Neurology 1998;50(1):6-7.
-
Ruff 1998 Ruff RL. Why do patients with McArdle's disease have decreased exercise capacity?. Neurology 1998;50(1):6-7.
-
-
-
-
44
-
-
0000487854
-
-
Schmidt 1959 Schmidt R, Mahler R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in muscle. Journal of Clinical Investigation 1959;108:2044-58.
-
Schmidt 1959 Schmidt R, Mahler R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in muscle. Journal of Clinical Investigation 1959;108:2044-58.
-
-
-
-
45
-
-
0030731246
-
-
Tarnopolsky 1997 Tarnopolsky MA, Roy BD, MacDonald JR. A randomised controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle & Nerve 1997;20:1502-9.
-
Tarnopolsky 1997 Tarnopolsky MA, Roy BD, MacDonald JR. A randomised controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle & Nerve 1997;20:1502-9.
-
-
-
-
46
-
-
0031439229
-
-
Vandenberghe 1997 Vandenberghe K, Goris M, Van Hecke P, Van Leemputte M, Vangerven L, Hespel P. Long term creatine intake is beneficial to muscle performance during resistance training. Journal of Applied Physiology 1997;83:2055-63.
-
Vandenberghe 1997 Vandenberghe K, Goris M, Van Hecke P, Van Leemputte M, Vangerven L, Hespel P. Long term creatine intake is beneficial to muscle performance during resistance training. Journal of Applied Physiology 1997;83:2055-63.
-
-
-
-
47
-
-
0032523093
-
-
Vissing 1998 Vissing J, Vissing SF, Maclean D, Saltin B, Quistorff B, Haller RJ. Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies. Journal of Clinical Investigation 1998;108:1654-60.
-
Vissing 1998 Vissing J, Vissing SF, Maclean D, Saltin B, Quistorff B, Haller RJ. Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies. Journal of Clinical Investigation 1998;108:1654-60.
-
-
-
|