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Journal Abstract Search

204 related items for PubMed ID: 29095874

  • 1. Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
    Rannou F, Scotet V, Marcorelles P, Monnoyer R, Le Maréchal C.
    PLoS One; 2017; 12(11):e0187266. PubMed ID: 29095874
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  • 3. Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
    Rannou F, Uguen A, Scotet V, Le Maréchal C, Rigal O, Marcorelles P, Gobin E, Carré JL, Zagnoli F, Giroux-Metges MA.
    PLoS One; 2015; 10(7):e0132972. PubMed ID: 26207760
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  • 4. A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
    Gross M, Rötzer E, Kölle P, Mortier W, Reichmann H, Goebel HH, Lochmüller H, Pongratz D, Mahnke-Zizelman DK, Sabina RL.
    Neuromuscul Disord; 2002 Aug; 12(6):558-65. PubMed ID: 12117480
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  • 6. Genetic characteristics of myoadenylate deaminase deficiency.
    Verzijl HT, van Engelen BG, Luyten JA, Steenbergen GC, van den Heuvel LP, ter Laak HJ, Padberg GW, Wevers RA.
    Ann Neurol; 1998 Jul; 44(1):140-3. PubMed ID: 9667605
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  • 7. Exercise efficiency impairment in metabolic myopathies.
    Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F.
    Sci Rep; 2020 May 29; 10(1):8765. PubMed ID: 32472082
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  • 8. Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.
    Noury JB, Zagnoli F, Carré JL, Drouillard I, Petit F, Le Maréchal C, Marcorelles P, Rannou F.
    Acta Neurol Scand; 2018 Oct 29; 138(4):301-307. PubMed ID: 29749052
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  • 9. [Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise].
    Pantoja-Martínez J, Navarro Fernández-Balbuena C, Gormaz-Moreno M, Quintans-Castro B, Esparza-Sánchez MA, Bonet-Arzo J.
    Rev Neurol; 2018 Oct 29; 39(5):431-4. PubMed ID: 15378456
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  • 10. Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
    Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M.
    Neuromuscul Disord; 2000 Oct 29; 10(7):472-7. PubMed ID: 10996775
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  • 11. Ecto- and cytosolic 5'-nucleotidases in normal and AMP deaminase-deficient human skeletal muscle.
    Hanisch F, Hellsten Y, Zierz S.
    Biol Chem; 2006 Jan 29; 387(1):53-8. PubMed ID: 16497164
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  • 12. Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.
    Skyllouriotis ML, Marx M, Bittner RE, Skyllouriotis P, Gross M, Wimmer M.
    Pediatr Neurol; 1997 Jul 29; 17(1):61-6. PubMed ID: 9308979
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  • 16. Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans.
    Tarnopolsky MA, Parise G, Gibala MJ, Graham TE, Rush JW.
    J Physiol; 2001 Jun 15; 533(Pt 3):881-9. PubMed ID: 11410643
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  • 17. Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects.
    De Ruiter CJ, May AM, van Engelen BG, Wevers RA, Steenbergen-Spanjers GC, de Haan A.
    Clin Sci (Lond); 2002 May 15; 102(5):531-9. PubMed ID: 11980572
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  • 18. Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction.
    Finsterer J, Schoser B, Stöllberger C.
    Acta Cardiol; 2004 Aug 15; 59(4):453-6. PubMed ID: 15368811
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  • 20. The effect of AMPD1 genotype on blood flow response to sprint exercise.
    Norman B, Nygren AT, Nowak J, Sabina RL.
    Eur J Appl Physiol; 2008 May 15; 103(2):173-80. PubMed ID: 18224333
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