Detalhe da pesquisa
1.
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Am J Hum Genet
; 110(3): 531-547, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809767
2.
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Am J Hum Genet
; 104(4): 638-650, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905397
3.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Nat Commun
; 12(1): 3332, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34099697
4.
Small molecule splicing modifiers with systemic HTT-lowering activity.
Nat Commun
; 12(1): 7299, 2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34911927
5.
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.
J Clin Invest
; 129(11): 4817-4831, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31589162
6.
Discovery and Optimization of Small Molecule Splicing Modifiers of Survival Motor Neuron 2 as a Treatment for Spinal Muscular Atrophy.
J Med Chem
; 59(13): 6070-85, 2016 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27299569
7.
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.
Science
; 345(6197): 688-93, 2014 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25104390