Results 151 to 160 of about 2,938 (199)
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy. [PDF]
Neurol GenetSchiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo C, Guglieri M, Cetin H, Gelpi E, Klotz S, De Bleecker JL, Alonso-Jimenez A, Baets J, De Ridder W, De Jonghe P, Claeys KG, Thal DR, Bevilacqua JA, Luo S, Zhu W, Lin J, Papadimas G, Papadopoulos C, Zamba-Papanicolaou E, Xirou S, Pal E, Rodolico C, Kostera-Pruszczyk A, Kierdaszuk B, Kaminska A, Muelas N, Vilchez JJ, Domínguez-González C, Hernandez-Lain A, Alonso-Perez J, Nedkova-Hristova V, Aledo C, Oldfors A, Badrising UA, Kushlaf H, Lloyd TE, Ikenaga C, Alfano LN, Quinn CC, Walk D, Vorgerd M, Weihl C, Olivé M, Diaz-Manera J, VCP International Study Group. +67 moreeuropepmc +1 more sourceReal-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 sourceSMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. [PDF]
Eur J Hum GenetGérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F. +39 moreeuropepmc +1 more sourceSpectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population: Registre SMA France. [PDF]
Neurol GenetGerin L, Ropars J, Garcia-Uzquiano R, Gómez-García De la Banda M, Saugier-Veber P, Desguerre I, Salort-Campana E, Espil C, Barnerias C, Laugel V, Cances C, Audic F, Cintas P, Le Goff L, Mallaret M, Nouguès MC, Drunat S, Tard C, Grimaldi L, Quijano-Roy S, R-SMA Study Group (FILNEMUS). +20 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 source
