Results 81 to 90 of about 795 (128)

Tailored antisense oligonucleotides for ultrarare CNS diseases: An experience-based best practice framework for individual patient evaluation. [PDF]

Mol Ther Nucleic Acids
Schüle R, Graessner H, Aartsma-Rus A, van Roon-Mom WMC, N=1 Collaborative (N1C), 1 Mutation 1 Medicine Consortium (1M1M), Synofzik M.   +6 more
europepmc   +1 more source

Integrating Machine Learning-Based Approaches into the Design of ASO Therapies. [PDF]

Genes (Basel)
Leckie J, Yokota T.
europepmc   +1 more source

The N=1 Collaborative: advancing customized nucleic acid therapies through collaboration and data sharing. [PDF]

Nucleic Acids Res
Belgrad J, McConnell E, Leonard S, Nolen N, Lauffer MC, Watts JK, Yu T, Yan WX, Aartsma-Rus A.   +8 more
europepmc   +1 more source

Splice-switching antisense oligonucleotides for pediatric neurological disorders. [PDF]

Front Mol Neurosci
Zhang X.
europepmc   +1 more source

Cone-Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report. [PDF]

Clin Case Rep
Hosseini SM, Nejad Shahrokh Abadi R, Babaei M, Eghbal F, Hashemi N.   +4 more
europepmc   +1 more source

RNA-based discovery and correction of splicing defects caused by <i>POLR3A</i> missense mutations. [PDF]

Mol Ther Nucleic Acids
Shkreta L, Delannoy A, Toutant J, McSwiggen J, Chabot B.   +4 more
europepmc   +1 more source

Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies. [PDF]

J Clin Med
Rotuski G, Paczwa K, Mędrzycka J, Różycki R, Gołębiewska J.   +4 more
europepmc   +1 more source

Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics. [PDF]

Front Genet
Nicolaou P.
europepmc   +1 more source

Cathepsin Z/X: Breaking Down the Known and Unknown. [PDF]

Int J Mol Sci
Zdravkova K, Pavicević M, Mijanović O, Branković A, Ilicheva PM, Stankovski A, Karanović J, Pualić D, Rubel AA, Rodionov IV, Savvateeva LV, Parodi A, Zamyatnin AA.   +12 more
europepmc   +1 more source