Results 161 to 170 of about 888,799 (202)

Penatalaksanaan Fisioterapi Pada Anak Dengan Spinal Muscular Atrophy: Literature Review

Spinal Muscular Atrophy (SMA) adalah penyakit autosomal resesif yang terjadi akibat adanya delesi maupun mutasi pada protein survival motor neuron (SMN).
Egalia Novika Hidayat, Adnan Faris Naufal   +1 more
core   +1 more source

Psychological symptoms in individuals with Spinal Muscular Atrophy (SMA) and their caregivers - results from a nation-wide study in Germany. [PDF]

Orphanet J Rare Dis
Hussong J, Leibrock B, Huelle T, Mattheus H, Landfeldt E, Thiele S, Walter MC, Zemlin M, Moehler E, Dillmann U, Flotats-Bastardas M.   +10 more
europepmc   +1 more source

Assessment of Transition Plan Implementation and Provider Engagement Among Adults Living with Spinal Muscular Atrophy (SMA): Findings from a Cross-Sectional Survey. [PDF]

Neurol Ther
Eisenman LE, Wise AR, Curry MA.
europepmc   +1 more source

Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment. [PDF]

Orphanet J Rare Dis, 2021
Monnette A, Chen E, Hong D, Bazzano A, Dixon S, Arnold WD, Shi L.   +6 more
europepmc   +1 more source

Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a cross-sectional study from Iran. [PDF]

Orphanet J Rare Dis
Montazeri B, Daroudi R, Darvishi A, Heidari M, Anabi M, Heshmat R.   +5 more
europepmc   +1 more source

Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen. [PDF]

J Cell Mol Med, 2021
Johannsen J, Weiss D, Daubmann A, Schmitz L, Denecke J.   +4 more
europepmc   +1 more source

Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal outcomes with multi-speciality management. [PDF]

J Neurol
Cohen D, Nana M, Hart N, Arrandale L, Kelleher C, Nelson-Piercy C.   +5 more
europepmc   +1 more source

Activation of Muscle-Specific Kinase (MuSK) Reduces Neuromuscular Defects in the Delta7 Mouse Model of Spinal Muscular Atrophy (SMA). [PDF]

Int J Mol Sci, 2021
Feng Z, Lam S, Tenn ES, Ghosh AS, Cantor S, Zhang W, Yen PF, Chen KS, Burden S, Paushkin S, Ayalon G, Ko CP.   +11 more
europepmc   +1 more source

Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America. [PDF]

Rev Neurol
Nascimento Osorio AE, Barros Acevedo G, Beytía MLÁ, Bobadilla Quesada EJ, Castellar-Leones SM, Castiglioni C, Casartelli Galeano MJ, Contreras Caicedo G, Cordero Molina MF, Escobar Cedillo RE, Espinel F, Earle N, Franco Toñanez CA, Galvez Quiñonez HH, Gurgel-Giannetti J, Gutiérrez Mata AP, Hervias Ruz MC, Linzoain JE, Lucero MA, Medici C, Mesa Restrepo SC, Meza Cano ME, Monges S, Munive Baez LM, Núñez Antelo LI, Odales Ibarra RR, Artiga-Rodríguez VD, Pérez Almengor ES, Martínez Esteban PC, Ramírez-Montaño D, Moreno-Salgado R, Ruiz García M, Sáez Galaz V, Vargas Cañas ES, Bevilacqua JA, Zanoteli E, Zuniga García CJ, Gueçaimburu MR, Gutiérrez-Saenz M, Armijo Gómez JA.   +39 more
europepmc   +1 more source

Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA). [PDF]

Orphanet J Rare Dis, 2021
Mix L, Schreiber-Katz O, Wurster CD, Uzelac Z, Platen S, Gipperich C, Ranxha G, Wieselmann G, Osmanovic A, Ludolph AC, Petri S, Lulé D.   +11 more
europepmc   +1 more source