Detalhe da pesquisa
1.
Identification of ALK in Thinness.
Cell
; 181(6): 1246-1262.e22, 2020 06 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32442405
2.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37183190
3.
BioProfiling.jl: profiling biological perturbations with high-content imaging in single cells and heterogeneous populations.
Bioinformatics
; 38(6): 1692-1699, 2022 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34935929
4.
SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis.
Nature
; 471(7340): 637-41, 2011 Mar 31.
Artigo
Inglês
| MEDLINE | ID: mdl-21455181
5.
6.
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
bioRxiv
; 2023 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37214873
7.
Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability.
Clin Neurol Neurosurg
; 213: 107108, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34995834
8.
Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function.
FEBS J
; 289(12): 3457-3476, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35029322
9.
FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder.
EMBO Mol Med
; 14(9): e15829, 2022 09 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35916241
10.
Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability.
Trends Mol Med
; 27(3): 220-230, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33397633
11.
Network analysis reveals rare disease signatures across multiple levels of biological organization.
Nat Commun
; 12(1): 6306, 2021 11 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34753928
12.
Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.
Hum Genome Var
; 8(1): 37, 2021 Sep 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34580287
13.
PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life.
Front Mol Neurosci
; 14: 720973, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34646120
14.
Ubiquitin ligase complexes: from substrate selectivity to conjugational specificity.
Biol Chem
; 391(2-3): 163-169, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20030582
15.
PRDM12: New Opportunity in Pain Research.
Trends Mol Med
; 26(10): 895-897, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32828702
16.
Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA.
Cell Rep
; 26(13): 3522-3536.e5, 2019 03 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30917309
17.
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Neurol Genet
; 5(3): e330, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31321300
18.
Cadherin-8 and N-cadherin differentially regulate pre- and postsynaptic development of the hippocampal mossy fiber pathway.
Hippocampus
; 18(4): 349-63, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18064706
19.
The extracellular protease matrix metalloproteinase-9 is activated by inhibitory avoidance learning and required for long-term memory.
Learn Mem
; 14(10): 655-64, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17909100
20.
Matrix metalloproteinase-9 is required for hippocampal late-phase long-term potentiation and memory.
J Neurosci
; 26(7): 1923-34, 2006 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16481424