Results 111 to 120 of about 9,602 (185)
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. [PDF]
Eur J NeurolSchoser B, van der Beek NAME, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, Hundsberger T, Kornblum C, Kruijshaar M, Laforet P, Mengel E, Mongini T, Orlikowski D, Parenti G, Pijnappel WWMP, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, van der Ploeg AT. +22 moreeuropepmc +1 more source<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort. [PDF]
J Neurol Neurosurg PsychiatryBahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN. +31 moreeuropepmc +1 more sourceMuscle 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 sourceBulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry. [PDF]
Eur J NeurolRetailleau E, Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Béhin A, Solé G, Noury JB, Sacconi S, Magot A, Pakleza AN, Orlikowski D, Beltran S, Spinazzi M, Cintas P, Fournier M, Bouibede F, Prigent H, Nicolas G, Taouagh N, El Guizani T, Attarian S, Arrassi A, Hamroun D, Laforêt P. +26 moreeuropepmc +1 more sourceEffect of mesenchymal stem cells on the host response in severe community-acquired pneumonia. [PDF]
ThoraxReijnders TDY, Laterre PF, François B, Sánchez García M, van Engelen TSR, Sie D, Scicluna BP, Ostanin DV, Galinsky KJ, Butler JM, Lombardo E, van der Poll T, SEPCELL study group. +12 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 source
