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Science Translational Medicine|December 1, 2017
Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidaseFrancesco Puzzo, Pasqualina Colella, Maria G Biferi, et al.
Orphanet Journal of Rare Diseases|December 20, 2024
Spinal muscular atrophy is also a disorder of spermatogenesisArmelle Magot, Arnaud Reignier, Olivier Binois, et al.
European Journal of Neurology|September 4, 2025
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)Rémy Dumas, Anne-Sophie Jannot, Nabila Elarouci, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 26, 2017
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase αPriya Kishnani, Mark Tarnopolsky, Mark Roberts, et al.
Neurology|April 14, 2019
FSHD1 and FSHD2 form a disease continuumSabrina Sacconi, Audrey Briand-Suleau, Marilyn Gros, et al.
Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.
The Lancet. Rheumatology|January 26, 2024
Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trialOlivier Benveniste, Jean-Yves Hogrel, Lisa Belin, et al.
The New England Journal of Medicine|April 16, 2010
A randomized study of alglucosidase alfa in late-onset Pompe's diseaseAns T van der Ploeg, Paula R Clemens, Deyanira Corzo, et al.
European Journal of Neurology|June 14, 2024
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, et al.
Journal of Neuromuscular Diseases|November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic reviewBeatrice Labella, Guy Brochier, Maud Beuvin, et al.
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