Results 71 to 80 of about 654 (133)

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes. [PDF]

Invest Ophthalmol Vis Sci, 2023
Kolesnikova M, Lima de Carvalho JR, Oh JK, Soucy M, Demirkol A, Kim AH, Tsang SH, Breazzano MP.   +7 more
europepmc   +1 more source

Facing the challenge of effective dosing, safety, and timing of intrathecal gene therapy for neurological disorders. [PDF]

EBioMedicine
Kagiava A, Kleopa KA.
europepmc   +1 more source

Progress and challenges in intrathecal gene therapy for neurological disorders. [PDF]

EBioMedicine
Kagiava A, Chen X, Finkel RS, Gray SJ, Kleopa KA.   +4 more
europepmc   +1 more source

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. [PDF]

Neurol Genet, 2023
Monfrini E, Pesini A, Biella F, Sobreira CFR, Emmanuele V, Brescia G, Lopez LC, Tadesse S, Hirano M, Comi GP, Quinzii CM, Di Fonzo A.   +11 more
europepmc   +1 more source

MFSD6 is an entry receptor for enterovirus D68. [PDF]

Nature
Varanese L, Xu L, Peters CE, Pintilie G, Roberts DS, Raj S, Liu M, Ooi YS, Diep J, Qiao W, Richards CM, Callaway J, Bertozzi CR, Jabs S, de Vries E, van Kuppeveld FJM, Nagamine CM, Chiu W, Carette JE.   +18 more
europepmc   +1 more source

Strontium-Alix interaction enhances exosomal miRNA selectively loading in synovial MSCs for temporomandibular joint osteoarthritis treatment. [PDF]

Int J Oral Sci
Yuan W, Liu J, Zhang Z, Ye C, Zhou X, Yi Y, Wu Y, Li Y, Zhang Q, Xiong X, Xiao H, Liu J, Wang J.   +12 more
europepmc   +1 more source

CLN7 gene therapy: hope for an ultra-rare condition. [PDF]

J Clin Invest, 2022
Brudvig JJ, Weimer JM.
europepmc   +1 more source

Expanding the toolbox: Emerging antisense oligonucleotide mechanisms for modulating gene expression. [PDF]

Mol Ther Nucleic Acids
Trew I, Wilton SD, Cale JM, Aung-Htut M.
europepmc   +1 more source

Editorial: Ion transporters and channels in cellular pathophysiology. [PDF]

Front Cell Dev Biol, 2022
Remigante A, Gavazzo P, Morabito R, Dossena S.   +3 more
europepmc   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source