Detalhe da pesquisa
1.
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.
Mol Ther
; 30(2): 975, 2022 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063081
2.
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.
Mol Ther
; 25(3): 780-791, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28254438
3.
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Am J Hum Genet
; 94(1): 144-52, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387994
4.
Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice.
Mol Ther
; 24(1): 17-25, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307667
5.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Am J Hum Genet
; 92(4): 605-13, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23541340
6.
A novel actin mRNA splice variant regulates ACTG1 expression.
PLoS Genet
; 9(10): e1003743, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24098136
7.
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Commun Biol
; 5(1): 540, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661827
8.
Harnessing molecular motors for nanoscale pulldown in live cells.
Mol Biol Cell
; 28(3): 463-475, 2017 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27932498
9.
Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear.
Nat Commun
; 6: 6873, 2015 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25898120
10.
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Eur J Hum Genet
; 23(9): 1207-15, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25491636
11.
Distribution and Severity of Neuropathology in ß-Mannosidase-Deficient Mice is Strain Dependent.
JIMD Rep
; 13: 73-81, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24142277
12.
Actin in hair cells and hearing loss.
Hear Res
; 288(1-2): 89-99, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22200607
13.
An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival.
Genome Res
; 16(9): 1084-90, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16899656