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Current Opinion in Neurology|July 25, 2017
Update on new muscle glycogenosisPascal Laforêt, Edoardo Malfatti, John VissingArchives of Neurology|April 12, 2012
Blocked muscle fat oxidation during exercise in neutral lipid storage diseasePascal Laforêt, Mette Ørngreen, Nicolai Preisler, et al.Journal of Inherited Metabolic Disease|March 20, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective studyAndoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, et al.Neurology|November 17, 2017
Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiencyMads Godtfeldt Stemmerik, Karen Lindhardt Madsen, Pascal Laforêt, et al.Journal of the Neurological Sciences|February 28, 2012
Juvenile-onset permanent weakness in muscle phosphofructokinase deficiencyEdoardo Malfatti, Nazha Birouk, Norma B Romero, et al.Neurology|January 24, 2014
Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trialMette Cathrine Ørngreen, Karen Lindhardt Madsen, Nicolai Preisler, et al.JIMD Reports|June 27, 2019
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiencyKaren L Madsen, Nicolai Preisler, Astrid E Buch, et al.Molecular Genetics and Metabolism Reports|June 2, 2020
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophyClaire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, et al.European Journal of Neurology|November 20, 2022
Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapyDiana Maria Chitimus, Edouard Berling, Laurent Garderet, et al.Human Mutation|April 14, 2025
Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 DeficiencyThomas Krag, Emily Nasho, Lauren Brady, et al.Pageof 66