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Items: 1 to 20 of 23

1.
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency
Fabrice Rannou, Virginie Scotet, Pascale Marcorelles, Roxane Monnoyer, Cédric Le Maréchal
PLoS One. 2017; 12(11): e0187266. Published online 2017 Nov 2. doi: 10.1371/journal.pone.0187266
PMCID:
PMC5667816
AbstractArticlePDF–2.2M
2.
Effect of isolated AMP deaminase deficiency on skeletal muscle function
Jidong Cheng, Hiroko Morisaki, Naomi Sugimoto, Atsushi Dohi, Takuya Shintani, Erika Kimura, Keiko Toyama, Masahito Ikawa, Masaru Okabe, Itsuro Higuchi, Satoshi Matsuo, Yasuaki Kawai, Ichiro Hisatome, Takako Sugama, Edward W. Holmes, Takayuki Morisaki
Mol Genet Metab Rep. 2014; 1: 51–59. Published online 2014 Jan 16. doi: 10.1016/j.ymgmr.2013.12.004
PMCID:
PMC5121310
AbstractArticlePDF–496K
3.
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study
Fabrice Rannou, Arnaud Uguen, Virginie Scotet, Cédric Le Maréchal, Odile Rigal, Pascale Marcorelles, Eric Gobin, Jean-Luc Carré, Fabien Zagnoli, Marie-Agnès Giroux-Metges
PLoS One. 2015; 10(7): e0132972. Published online 2015 Jul 24. doi: 10.1371/journal.pone.0132972
PMCID:
PMC4514803
AbstractArticlePDF–3.6M
4.
Chronic Non-Exertional Myalgia and Myoadenylate Deaminase Deficiency: a Possible Association
Aiesha Ahmed, Max R Lowden
J Clin Med Res. 2009 Apr; 1(1): 56–57. Published online 2009 Mar 24. doi: 10.4021/jocmr2009.04.1231
PMCID:
PMC3318872
AbstractArticlePDF–1.3M
5.
Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans
Mark A Tarnopolsky, Gianni Parise, Martin J Gibala, Terry E Graham, James W E Rush
J Physiol. 2001 Jun 15; 533(Pt 3): 881–889. doi: 10.1111/j.1469-7793.2001.t01-1-00881.x
PMCID:
PMC2278656
AbstractArticlePDF–120K
6.
Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle.
R L Sabina, J L Swain, C W Olanow, W G Bradley, W N Fishbein, S DiMauro, E W Holmes
J Clin Invest. 1984 Mar; 73(3): 720–730. doi: 10.1172/JCI111265
PMCID:
PMC425074
SummaryPage BrowsePDF–2.0M
7.
Disruption of the Purine Nucleotide Cycle: A POTENTIAL EXPLANATION FOR MUSCLE DYSFUNCTION IN MYOADENYLATE DEAMINASE DEFICIENCY
Richard L. Sabina, Judith L. Swain, Bernard M. Patten, Tetsuo Ashizawa, William E. O'Brien, Edward W. Holmes
J Clin Invest. 1980 Dec; 66(6): 1419–1423. doi: 10.1172/JCI109995
PMCID:
PMC371628
SummaryPage BrowsePDF–961K
8.
Molecular basis of AMP deaminase deficiency in skeletal muscle.
T Morisaki, M Gross, H Morisaki, D Pongratz, N Zöllner, E W Holmes
Proc Natl Acad Sci U S A. 1992 Jul 15; 89(14): 6457–6461. doi: 10.1073/pnas.89.14.6457
PMCID:
PMC49520
SummaryPage BrowsePDF–1.2M
9.
The molecular basis of skeletal muscle weakness in a mouse model of inflammatory myopathy
William Coley, Sree Rayavarapu, Gouri S. Pandey, Richard L. Sabina, Jack H. vander Meulen, Beryl Ampong, Robert L. Wortmann, Rashmi Rawat, Kanneboyina Nagaraju
Arthritis Rheum. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Arthritis Rheum. 2012 Nov; 64(11): 3750–3759. doi: 10.1002/art.34625
PMCID:
PMC3485437
AbstractArticlePDF–1.2M
10.
Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency
Lin Zhang, Dominic Thyagarajan
Brain Sci. 2022 Dec; 12(12): 1605. Published online 2022 Nov 23. doi: 10.3390/brainsci12121605
PMCID:
PMC9775375
AbstractArticlePDF–214K
11.
Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study
Michael Wilkinson, Kathy Cash, Bernice Gutschmidt, Sophia Otto, Vidya Limaye
Front Med (Lausanne) 2022; 9: 1061722. Published online 2022 Nov 23. doi: 10.3389/fmed.2022.1061722
PMCID:
PMC9727292
AbstractArticlePDF–241K
12.
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
Samya Chakravorty, Babi Ramesh Reddy Nallamilli, Satish Vasant Khadilkar, Madhu Bala Singla, Ashish Bhutada, Rashna Dastur, Pradnya Satish Gaitonde, Laura E Rufibach, Logan Gloster, Madhuri Hegde
Front Neurol. 2020; 11: 559327. Published online 2020 Nov 5. doi: 10.3389/fneur.2020.559327
PMCID:
PMC7674836
AbstractArticlePDF–1.7M
13.
Adenosine monophosphate deaminase 3 null mutation causes reduction of naive T cells in mouse peripheral blood
Xiaoming Zhan, Xue Zhong, Jin Huk Choi, Lijing Su, Jianhui Wang, Evan Nair-Gill, Priscilla Anderton, Xiaohong Li, Miao Tang, Jamie Russell, Sara Ludwig, Thomas Gallagher, Bruce Beutler
Blood Adv. 2020 Aug 11; 4(15): 3594–3605. Published online 2020 Aug 6. doi: 10.1182/bloodadvances.2020001762
PMCID:
PMC7422112
AbstractArticlePDF–1.5M
14.
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies
Jean-Baptiste Noury, Fabien Zagnoli, François Petit, Cédric Le Maréchal, Pascale Marcorelles, Fabrice Rannou
Sci Rep. 2020; 10: 8865. Published online 2020 Jun 1. doi: 10.1038/s41598-020-65797-1
PMCID:
PMC7264313
AbstractArticlePDF–1.3M
15.
Isozymes of AMP-Deaminase in Muscles Myasthenia Gravis Patients
Iwona M. Rybakowska, Stanisław Bakuła, Krystian Kaletha
Int J Pept Res Ther. 2016; 22(4): 511–515. Published online 2016 May 13. doi: 10.1007/s10989-016-9533-9
PMCID:
PMC5061832
AbstractArticlePDF–552K
16.
Right ventricular obstructive hypertrophic cardiomyopathy in primary Myo-Adenylate Deaminase Deficiency
C. DE GREGORIO, G. MORABITO, O. MUSUMECI, R. DONATO, A. TOSCANO
Acta Myol. 2011 Jul; 30(1): 46–48.
PMCID:
PMC3185826
AbstractArticlePDF–435K
17.
Severe Rhabdomyolysis Caused by Plasmodium vivax Malaria in the Brazilian Amazon
André M. Siqueira, Márcia A. A. Alexandre, Maria P. G. Mourão, Valquir S. Santos, Suely K. Nagahashi-Marie, Maria G. C. Alecrim, Marcus V. G. Lacerda
Am J Trop Med Hyg. 2010 Aug 5; 83(2): 271–273. doi: 10.4269/ajtmh.2010.10-0027
PMCID:
PMC2911169
AbstractArticlePDF–414K
18.
The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease
John Vissing, David A MacLean, Susanne F Vissing, Mikael Sander, Bengt Saltin, Ronald G Haller
J Physiol. 2001 Dec 1; 537(Pt 2): 641–649. doi: 10.1111/j.1469-7793.2001.00641.x
PMCID:
PMC2278977
AbstractArticlePDF–279K
19.
Disruption of the purine nucleotide cycle by inhibition of adenylosuccinate lyase produces skeletal muscle dysfunction.
J L Swain, J J Hines, R L Sabina, O L Harbury, E W Holmes
J Clin Invest. 1984 Oct; 74(4): 1422–1427. doi: 10.1172/JCI111553
PMCID:
PMC425310
SummaryPage BrowsePDF–1.0M
20.
Metabolic disorders of purine metabolism affecting the nervous system
H.A. Jinnah, Richard L. Sabina, Georges Van Den Berghe
Handb Clin Neurol. Author manuscript; available in PMC 2014 Oct 31.
Published in final edited form as: Handb Clin Neurol. 2013; 113: 1827–1836. doi: 10.1016/B978-0-444-59565-2.00052-6
PMCID:
PMC4215161
ArticlePDF–938K

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