Results 281 to 290 of about 113,624 (330)

Spinal muscular atrophy in Brazil: from individual treatment to global management. [PDF]

J Pediatr (Rio J)
Servais L, Moreno CAM.
europepmc   +1 more source

Real-world evidence in spinal muscular atrophy: addressing heterogeneity of populations and treatment comparisons. [PDF]

Lancet Reg Health Eur
Ropars J, Grimaldi L, Quijano-Roy S.
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Cytoskeleton dysfunction of motor neuron in spinal muscular atrophy. [PDF]

J Neurol
Shi T, Zhou Z, Xiang T, Suo Y, Shi X, Li Y, Zhang P, Dai J, Sheng L.   +8 more
europepmc   +1 more source

Altered lysosomal biology impairs motor neuron survival via TFEB dysregulation in spinal muscular atrophy

Rosignol I, Dokuzluoglu Z, Caldarelli A, Oprişoreanu A, Ushakova S, Siddiqui T, Grover R, Guerlich H, Falkenburger B, Diez S, Grass T, Becker CG, Rodriguez-Muela N.   +12 more
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A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling. [PDF]

Hum Mol Genet
Zwartkruis MM, de Pagter MS, Gommers D, Koopmans M, Ottenheim CPE, Kortooms JV, Albring M, Elferink MG, Wadman RI, Asselman FL, Cuppen I, van der Pol WL, Nelen MR, van Haaften GW, Groen EJN.   +14 more
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Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam.

Sharma G, Paganin M, Huang Y, Perenthaler E, Signoria I, Faller K, Maniscalco F, Perrucci C, Donzel D, Chaytow H, Basso M, Lauria F, Kothary R, Van Der Pol L, Claus P, Groen EJ, Gillingwater TH, Viero G.   +17 more
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Spinal muscular atrophy

Nature Reviews Disease Primers, 2022
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary supportive care of SMA were established in the past few
Eugenio Mercuri, Charlotte J. Sumner, Francesco Muntoni, Basil T. Darras, Richard S. Finkel   +4 more
openaire   +3 more sources