Detalhe da pesquisa
1.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
2.
Adapting the endoplasmic reticulum proteostasis rescues epilepsy-associated NMDA receptor variants.
Acta Pharmacol Sin
; 45(2): 282-297, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37803141
3.
tRNA Metabolism and Neurodevelopmental Disorders.
Annu Rev Genomics Hum Genet
; 20: 359-387, 2019 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31082281
4.
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.
J Neurosci Res
; 99(1): 110-123, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141462
5.
Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity.
PLoS Genet
; 9(1): e1003274, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23382704
6.
Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas.
Development
; 138(4): 653-65, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266405
7.
Scalable, optically-responsive human neuromuscular junction model reveals convergent mechanisms of synaptic dysfunction in familial ALS.
bioRxiv
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260655
8.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Nat Commun
; 15(1): 1640, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388531
9.
mRNA isoform balance in neuronal development and disease.
Wiley Interdiscip Rev RNA
; 14(3): e1762, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123820
10.
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
bioRxiv
; 2023 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131660
11.
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
Am J Med Genet A
; 158A(11): 2788-96, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22991235
12.
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration.
Neuron
; 110(8): 1340-1357.e7, 2022 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35139363
13.
Adaptation to chronic ER stress enforces pancreatic ß-cell plasticity.
Nat Commun
; 13(1): 4621, 2022 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941159
14.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nat Genet
; 50(8): 1093-1101, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013181
15.
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Nat Genet
; 49(3): 457-464, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28092684
16.
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.
Nat Med
; 21(12): 1445-54, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26523971
17.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Nat Genet
; 47(5): 528-34, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25848753
18.
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
Gene
; 539(2): 279-82, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24530477
19.
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Neuron
; 84(6): 1226-39, 2014 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25521378
20.
Exome sequencing can improve diagnosis and alter patient management.
Sci Transl Med
; 4(138): 138ra78, 2012 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22700954