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.
Restriction of food intake by PPP1R17-expressing neurons in the DMH.
Proc Natl Acad Sci U S A
; 118(13)2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753517
3.
The genetic structure of the Turkish population reveals high levels of variation and admixture.
Proc Natl Acad Sci U S A
; 118(36)2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34426522
4.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet
; 99(5): 1181-1189, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773428
5.
Functional analysis reveals differential effects of glutamate and MCH neuropeptide in MCH neurons.
Mol Metab
; 13: 83-89, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29843980
6.
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Genome Med
; 9(1): 12, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28153049
7.
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Eur J Med Genet
; 58(1): 39-43, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25220016
8.
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.
Neuro Oncol
; 17(10): 1356-64, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740784
9.
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
Pediatr Neurol
; 51(6): 806-813.e8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25456301
10.
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
11.
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.
Neuron
; 85(1): 228, 2015 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654772