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83 results

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Page 1
Severe axial myopathy in McArdle disease.
Witting N, Duno M, Piraud M, Vissing J. Witting N, et al. Among authors: piraud m. JAMA Neurol. 2014 Jan;71(1):88-90. doi: 10.1001/jamaneurol.2013.3209. JAMA Neurol. 2014. PMID: 24216972
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.
Preisler N, Laforêt P, Echaniz-Laguna A, Ørngreen MC, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Stojkovic T, Piraud M, Petit FM, Vissing J. Preisler N, et al. Among authors: piraud m. J Clin Endocrinol Metab. 2013 Jul;98(7):E1235-40. doi: 10.1210/jc.2013-1651. Epub 2013 Jun 18. J Clin Endocrinol Metab. 2013. PMID: 23780368
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforêt P. Stojkovic T, et al. Among authors: piraud m. N Engl J Med. 2009 Jul 23;361(4):425-7. doi: 10.1056/NEJMc0901158. N Engl J Med. 2009. PMID: 19625727 No abstract available.
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Among authors: piraud m. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
[Contribution of genotyping in Fabry's disease].
Froissart R, Piraud M, Maire I. Froissart R, et al. Among authors: piraud m. Rev Med Interne. 2010 Dec;31 Suppl 2:S275-8. doi: 10.1016/S0248-8663(10)70027-8. Rev Med Interne. 2010. PMID: 21211679 French.
[Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)].
Drouet A, Zagnoli F, Fassier T, Rannou F, Baverel F, Piraud M, Bahuau M, Petit F, Streichenberger N, Marcorelles P, Vital Durand D. Drouet A, et al. Among authors: piraud m. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):613-24. doi: 10.1016/j.neurol.2013.02.006. Epub 2013 Sep 4. Rev Neurol (Paris). 2013. PMID: 24011984 French.
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, Nguyen Morel MA, Boisson B, Vergnaud S, Viou MT, Nonnenmacher L, Piraud M, Nusbaum P, Vamecq J, Romero N, Ottolenghi C, Casanova JL, de Lonlay P. Mamoune A, et al. Among authors: piraud m. PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25392908 Free PMC article.
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.
Cousyn L, Law-Ye B, Pyatigorskaya N, Debs R, Froissart R, Piraud M, Federico A, Salvatore S, Cerase A, Macário MC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, Laule C, Nakamagoe K, Raininko R, Schols L, Sirrs SM, Viader F, Jastrzębski K, Leclercq D, Nadjar Y. Cousyn L, et al. Among authors: piraud m. Neurology. 2019 Aug 13;93(7):e647-e652. doi: 10.1212/WNL.0000000000007943. Epub 2019 Jul 23. Neurology. 2019. PMID: 31337714
83 results