Results 121 to 130 of about 9,602 (185)
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study. [PDF]
Eur J NeurolTard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, Lagrange E, Nollet S, Sacconi S, Noury JB, Magot A, Cintas P, Renard D, Deibener-Kaminsky J, Lefeuvre C, Davion JB, Salort-Campana E, Arrassi A, Taouagh N, Spinazzi M, Pompe Study Group, Attarian S, Laforêt P. +22 moreeuropepmc +1 more sourceCorrection to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis. [PDF]
J NeurolEsteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. +65 moreeuropepmc +1 more sourceLysosomal impairments in Pompe disease are associated with altered T cell homeostasis and intrinsic metabolic dysregulation
Costa-Verdera H, Gargaro M, Cagin U, Manni G, Scalisi G, Veron P, Barcelos ECS, Pieroni B, Mencarelli G, Ricciuti D, Nemazanyy I, Sanatine P, Wittenberghe Lv, Laforêt P, Gross D, Ronzitti G, Fallarino F, Mingozzi F. +17 moreeuropepmc +1 more sourceSpinal muscular atrophy is also a disorder of spermatogenesis. [PDF]
Orphanet J Rare DisMagot A, Reignier A, Binois O, Bedat-Millet AL, Davion JB, Debergé L, Ghorab K, Guyant L, Laheranne É, Laforet P, Lefeuvre C, Mallaret M, Michaud M, Omar C, Nadaj-Pakleza A, Nicolas G, Noury JB, Pegat A, Péré M, Salort-Campana E, Sole G, Spinazzi M, Tard C, Vuillerot C, Péréon Y. +24 moreeuropepmc +1 more sourceComparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.
JAMA Netw OpenRopars J, Cances C, Garcia-Uzquiano R, Gomez-Garcia de la Banda M, Barnerias C, Audic F, Durigneux J, Halbert C, Nkam L, Laugel V, Espil C, Walther-Louvier U, Davion JB, Isapof A, Le Goff L, Desguerre I, Quijano-Roy S, Grimaldi L, French SMA Registry Study Group. +18 moreeuropepmc +1 more sourceCirculatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders. [PDF]
J Inherit Metab DisImbard A, de Calbiac H, Le Guillou E, Laforêt P, Schiff M, Brassier A, Thevenet E, Pontoizeau C, Lefrère B, Ottolenghi C, Lebigot E, Gaignard P, Gobin S, Acquaviva-Bourdain C, Benoist JF, Tuchmann-Durand C, Legendre A, de Lonlay P. +17 moreeuropepmc +1 more source
