Results 101 to 110 of about 9,361 (152)

Treating neuromuscular diseases: unveiling gene therapy breakthroughs and pioneering future applications. [PDF]

J Biomed Sci
Wu YF, Chen JA, Jong YJ.
europepmc   +1 more source

Predicting fragment binding modes using customized Lennard-Jones potentials in short molecular dynamics simulations. [PDF]

Comput Struct Biotechnol J
Vorreiter C, Robaa D, Sippl W.
europepmc   +1 more source

Characterization of SMA type II skeletal muscle from treated patients shows OXPHOS deficiency and denervation. [PDF]

JCI Insight
Grandi FC, Astord S, Pezet S, Gidaja E, Mazzucchi S, Chapart M, Vasseur S, Mamchaoui K, Smeriglio P.   +8 more
europepmc   +1 more source

Whole-transcriptome sequencing in neural and non-neural tissues of a mouse model identifies miR-34a as a key regulator in SMA pathogenesis. [PDF]

Mol Ther Nucleic Acids
Wu L, Sun J, Wang L, Chen Z, Guan Z, Du L, Qu R, Liu C, Shao Y, Hua Y.   +9 more
europepmc   +1 more source

Pathological mutation in SMN impairs modulation of GAR1 phase separation linking condensate dysfunction to Spinal Muscular Atrophy

Félix SS, O’Toole P, Oliveira NAS, Pinho BR, Blacker TS, Fernandes F, Oliveira JMA, Oroz J, Laurents DV, Cabrita EJ.   +9 more
europepmc   +1 more source

Identification of coilin interactors reveals coordinated control of Cajal body number and structure. [PDF]

J Cell Biol
Arias Escayola D, Zhang C, Nischwitz E, Schärfen L, Dörner K, Straube K, Kutay U, Butter F, Neugebauer KM.   +8 more
europepmc   +1 more source

Quantitative synthetic MRI reveals grey matter abnormalities in patients with spinal muscular atrophy types 2 and 3. [PDF]

Quant Imaging Med Surg
Yan C, Lan S, Wang H, Nie H, Xiang P, Xu B, Su S, Yang Z, Tang W, Li Y, Liang Y, Chen Y.   +11 more
europepmc   +1 more source

Role of senataxin in R-loop-mediated neurodegeneration. [PDF]

Brain Commun
Kannan A, Gangadharan Leela S, Branzei D, Gangwani L.   +3 more
europepmc   +1 more source

Dysregulation of innate immune signaling in animal models of spinal muscular atrophy. [PDF]

BMC Biol
Garcia EL, Steiner RE, Raimer AC, Herring LE, Matera AG, Spring AM.   +5 more
europepmc   +1 more source

SMN Deficiency Induces an Early Non-Atrophic Myopathy with Alterations in the Contractile and Excitatory Coupling Machinery of Skeletal Myofibers in the SMN∆7 Mouse Model of Spinal Muscular Atrophy. [PDF]

Int J Mol Sci
Berciano MT, Gatius A, Puente-Bedia A, Rufino-Gómez A, Tarabal O, Rodríguez-Rey JC, Calderó J, Lafarga M, Tapia O.   +8 more
europepmc   +1 more source