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.
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Am J Hum Genet
; 109(8): 1534-1548, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35905737
3.
Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.
Hum Mol Genet
; 31(11): 1776-1787, 2022 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34908112
4.
Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
Eur Heart J
; 43(17): 1668-1680, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35245370
5.
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
6.
Mutations in DCHS1 cause mitral valve prolapse.
Nature
; 525(7567): 109-13, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258302
7.
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Hum Mol Genet
; 27(14): 2466-2476, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701768
8.
Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.
Hum Mol Genet
; 27(15): 2725-2738, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29771310
9.
Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation.
FASEB J
; 32(2): 782-794, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29030399
10.
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Eur Heart J
; 39(15): 1269-1277, 2018 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29020406
11.
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
Hum Mol Genet
; 25(6): 1116-28, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26769677
12.
Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.
Am J Pathol
; 186(1): 199-209, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608452
13.
Familial clustering of mitral valve prolapse in the community.
Circulation
; 131(3): 263-8, 2015 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25361552
14.
Specific correction of a splice defect in brain by nutritional supplementation.
Hum Mol Genet
; 20(21): 4093-101, 2011 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21821670
15.
Atrioventricular valve development: new perspectives on an old theme.
Differentiation
; 84(1): 103-16, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22579502
16.
The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.
Exp Cell Res
; 317(6): 691-705, 2011 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21256127
17.
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
J Genet Genomics
; 49(7): 654-665, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896608
18.
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel.
J Biol Chem
; 285(45): 34304-8, 2010 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20864526
19.
Response to Letter Regarding Article, "Familial Clustering of Mitral Valve Prolapse in the Community".
Circulation
; 132(14): e187-8, 2015 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26438779
20.
Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.
Pediatr Res
; 70(5): 480-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21775922