Associated Papers
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar S et al.
Frontiers in Genetics, 2023
1,6-epi-Cyclophellitol Cyclosulfamidate Is a Bona Fide Lysosomal α-Glucosidase Stabilizer for the Treatment of Pompe Disease.
Kok K et al.
Journal of the American Chemical Society, 2022
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.
Wu L et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2018
Incidence of infantile Pompe disease in the Maroon population of French Guiana.
Elenga N et al.
Bmj Paediatrics Open, 2018
29637184 (PubMed )
Supplement: bmjpo-2017-000182.draft_revisions.pdf
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E et al.
Scientific Reports, 2016
27812025 (PubMed )
Supplement: srep36182-s1.pdf
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?
Ravaglia S et al.
Molecular Genetics and Metabolism, 2012
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ et al.
Human Mutation, 2009
Molecular genetics of late onset glycogen storage disease II in Italy.
Pittis MG et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Pittis MG et al.
American Journal of Medical Genetics. Part A, 2003
Helios gene gun particle delivery for therapy of acid maltase deficiency.
Martiniuk F et al.
Dna and Cell Biology, 2002
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Huie ML et al.
Biochemical and Biophysical Research Communications, 1998
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