Myoadenylate deaminase deficiency: a new disease of muscle
about
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorderMyoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycleMolecular basis of AMP deaminase deficiency in skeletal musclePhenotypic consequences of purine nucleotide imbalance in Saccharomyces cerevisiaeMyoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humansImportance of purine nucleotide cycle to energy production in skeletal muscleMutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transportAlternative splicing: a mechanism for phenotypic rescue of a common inherited defectA genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study.AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects.Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency.Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.What can metabolic myopathies teach us about exercise physiology?Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiencyEffect of isolated AMP deaminase deficiency on skeletal muscle function.Genes and exercise intolerance: insights from McArdle disease.Isozymes of AMP-Deaminase in Muscles Myasthenia Gravis Patients.Exercise-induced pain, stiffness, and tubular aggregation in skeletal muscle.Electromyography in infants and children.Operation of the purine nucleotide cycle in animal tissues.Purine biosynthesis de novo in rat skeletal muscle.Developmental forms of human skeletal-muscle AMP deaminase. The kinetic and regulatory properties of the enzyme.Isolation and characterization of AMP deaminase from mammalian (rabbit) myocardium.Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects.Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study.Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes.Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.[The hyperammonemia of exercise; value of automatic measurement]AMP-deaminase from thymus of patients with myasthenia gravis.Inborn errors of purine metabolism: clinical update and therapies.Differences in ammonia and adenylate metabolism in contracting fast and slow muscle.Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?Polygenic Study of Endurance-Associated Genetic Markers (Glu298Asp), (-9/+9), (Ala55Val), (Gln45Ter) and (I/D) in Polish Male Half Marathoners
P2860
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P2860
Myoadenylate deaminase deficiency: a new disease of muscle
description
1978 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1978 թվականի մայիսին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Science
@fr
artículu científicu espublizáu en 1978
@ast
im Mai 1978 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1978/05/05)
@sk
vědecký článek publikovaný v roce 1978
@cs
wetenschappelijk artikel (gepubliceerd op 1978/05/05)
@nl
наукова стаття, опублікована в травні 1978
@uk
name
Myoadenylate deaminase deficiency: a new disease of muscle
@ast
Myoadenylate deaminase deficiency: a new disease of muscle
@en
Myoadenylate deaminase deficiency: a new disease of muscle
@nl
type
label
Myoadenylate deaminase deficiency: a new disease of muscle
@ast
Myoadenylate deaminase deficiency: a new disease of muscle
@en
Myoadenylate deaminase deficiency: a new disease of muscle
@nl
prefLabel
Myoadenylate deaminase deficiency: a new disease of muscle
@ast
Myoadenylate deaminase deficiency: a new disease of muscle
@en
Myoadenylate deaminase deficiency: a new disease of muscle
@nl
P2093
P3181
P356
P1433
P1476
Myoadenylate deaminase deficiency: a new disease of muscle
@en
P2093
J. L. Griffin
V. W. Armbrustmacher
W. N. Fishbein
P304
P3181
P356
10.1126/SCIENCE.644316
P407
P577
1978-05-05T00:00:00Z