Detalhe da pesquisa
1.
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
bioRxiv;
2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38077003
2.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
JAMA Neurol;
80(9): 980-988, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486637
3.
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Proc Natl Acad Sci U S A;
120(4): e2209964120, 2023 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669111
4.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A;
191(1): 135-143, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
5.
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Dev Cell;
57(20): 2381-2396.e13, 2022 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228617
6.
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.
Neurology;
97(19): e1942-e1954, 2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544818
7.
Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
Neuron;
109(20): 3239-3251.e7, 2021 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478631