Associated Papers
Association of Genetically Predicted Activity of AMP Deaminase 1 with Clinical and Biochemical Parameters in Diabetic Individuals with Coronary Artery Disease.
Pietrzak-Nowacka M et al.
International Journal of Molecular Sciences, 2025
Muscle AMP deaminase activity was lower in Neandertals than in modern humans.
Macak D et al.
Nature Communications, 2025
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
Metabolic Myopathies in the Era of Next-Generation Sequencing.
Urtizberea JA et al.
Genes, 2023
Speed and power-related gene polymorphisms associated with playing position in elite soccer players.
Petr M et al.
Biology of Sport, 2022
Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes.
Pranckeviciene E et al.
Genes, 2021
Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.
Turner RM et al.
Journal of Clinical Medicine, 2019
Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.
Maltese PE et al.
Genetics and Molecular Research : Gmr, 2016
Genes and Athletic Performance: An Update.
Ahmetov II et al.
Medicine and Sport Science, 2016
The sarcomeric M-region: a molecular command center for diverse cellular processes.
Hu LY et al.
Biomed Research International, 2015
Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes.
Nikolova S et al.
Genetics Research International, 2015
Evaluation of a 7-Gene Genetic Profile for Athletic Endurance Phenotype in Ironman Championship Triathletes.
Grealy R et al.
Plos One, 2015
[Genetic confirmation of myoadenylate deaminase deficiency].
Navarro-Abia V et al.
Revista De Neurologia, 2014
Inborn errors of purine metabolism: clinical update and therapies.
Balasubramaniam S et al.
Journal of Inherited Metabolic Disease, 2014
AGTR2 gene polymorphism is associated with muscle fibre composition, athletic status and aerobic performance.
Mustafina LJ et al.
Experimental Physiology, 2014
AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes.
Ginevičienė V et al.
Bmc Genetics, 2014
Metabolic disorders of purine metabolism affecting the nervous system.
Jinnah HA et al.
Handbook of Clinical Neurology, 2013
Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions.
Zhang C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER et al.
Plos Genetics, 2012
Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.
Castro-Gago M et al.
Journal of Child Neurology, 2011
Strategic approaches to unraveling genetic causes of cardiovascular diseases.
Marian AJ et al.
Circulation Research, 2011
AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
Safranow K et al.
Journal of Applied Genetics, 2011
Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms.
Capacchione JF et al.
Anesthesiology, 2010
Is there an optimum endurance polygenic profile?
Ruiz JR et al.
The Journal of Physiology, 2009
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?
González-Freire M et al.
Neuromuscular Disorders : Nmd, 2009
Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.
Frank B et al.
Cancer Letters, 2008
The effect of AMPD1 genotype on blood flow response to sprint exercise.
Norman B et al.
European Journal of Applied Physiology, 2008
Distribution and effects of nonsense polymorphisms in human genes.
Yamaguchi-Kabata Y et al.
Plos One, 2008
Genotype modulators of clinical severity in McArdle disease.
Rubio JC et al.
Neuroscience Letters, 2007
McArdle disease: molecular genetic update.
Andreu AL et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Molecular genetics of McArdle's disease.
Nogales-Gadea G et al.
Current Neurology and Neuroscience Reports, 2007
Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.
Webb EL et al.
Human Molecular Genetics, 2006
Genetic risk factors associated with lipid-lowering drug-induced myopathies.
Vladutiu GD et al.
Muscle & Nerve, 2006
A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2005
Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait.
Goodarzi MO et al.
Diabetes, 2005
Association of medically unexplained fatigue with ACE insertion/deletion polymorphism in Gulf War veterans.
Vladutiu GD et al.
Muscle & Nerve, 2004
Haplotype analysis of human AMPD1 gene: origin of common mutant allele.
Toyama K et al.
Journal of Medical Genetics, 2004
Phenotype modulators in myophosphorylase deficiency.
Martinuzzi A et al.
Annals of Neurology, 2003
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Olpin SE et al.
Journal of Inherited Metabolic Disease, 2003
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
Vladutiu GD et al.
The Journal of Pediatrics, 2002
Molecular analysis of Spanish patients with AMP deaminase deficiency.
Rubio JC et al.
Muscle & Nerve, 2000
[Acute intermittent familial ataxia: report of a new family].
Pérez-Rodríguez MJ et al.
Revista De Neurologia, 1996
[Metabolic intolerance to exercise].
Arenas J et al.
Neurologia (barcelona, Spain), 0
[Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise].
Pantoja-Martínez J et al.
Revista De Neurologia, 0
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.
Isackson PJ et al.
Molecular Genetics and Metabolism, 0
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.
Vladutiu GD et al.
Molecular Genetics and Metabolism, 0