Results 71 to 80 of about 4,972 (128)

Loss of synaptic Munc13-1 underlies neurotransmission abnormalities in spinal muscular atrophy. [PDF]

Cell Mol Life Sci
Moradi M, Deng C, Sendtner M.
europepmc   +1 more source

Munc13-1 restoration mitigates presynaptic pathology in spinal muscular atrophy. [PDF]

Nat Commun
Moradi M, Weingart J, Deng C, Nasouti M, Briese M, Jablonka S, Sauer M, Sendtner M.   +7 more
europepmc   +1 more source

Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA. [PDF]

EMBO Mol Med
Stringer BW, Zhang Y, Taghipour-Sheshdeh A, Goh S, Kölbel H, Farrar MA, Wirth B, Giacomotto J.   +7 more
europepmc   +1 more source

Systematic identification of variant-specific RNA structure-small molecule interactions exemplified by RNA G-quadruplexes. [PDF]

Nat Commun
Miyashita E, Onizuka K, Chen Y, Yoshida H, Hatayama H, Ishikawa S, Yan P, Hasegawa T, Ozawa M, Maeta K, Nagatsugi F, Saito H, Komatsu KR.   +12 more
europepmc   +1 more source

ZPR1 Is Dispensable for HPV R-Loop Resolution but Regulates Host R-Loop Dynamics. [PDF]

Viruses
Moffitt R, Brooks S, Androphy EJ, DeSmet M.   +3 more
europepmc   +1 more source

Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients. [PDF]

Acta Neuropathol Commun
Allardyce H, Lanz H, Lawrence BD, Crawford TO, Sumner CJ, Parson SH.   +5 more
europepmc   +1 more source

MiR-140-3p regulates axonal motor protein KIF5A and contributes to axonal transport degeneration in SMA. [PDF]

Cell Death Discov
Baklou M, Valsecchi V, Laudati G, Kolici X, Brancaccio P, De Iesu N, Anzilotti S, Cieri F, Pignataro G.   +8 more
europepmc   +1 more source

Chaperone dysfunction in motor neuron disease: new insights from studies of the SMN complex. [PDF]

Genetics
Matera AG.
europepmc   +1 more source

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies. [PDF]

Biology (Basel)
Vezzoli A, Bottai D, Adami R.
europepmc   +1 more source

Biomarkers in spinal muscular atrophy. [PDF]

Front Neurol
Yan L, Zhang J, Zheng J, Hao H.
europepmc   +1 more source