Detalhe da pesquisa
1.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
2.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet
; 105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607425
3.
Drosophila Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains.
J Neurosci
; 40(42): 7999-8024, 2020 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32928889
4.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med
; 23(10): 1889-1900, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113007
5.
Genetics of FTLD: overview and what else we can expect from genetic studies.
J Neurochem
; 138 Suppl 1: 32-53, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27009575
6.
Imaging the extracellular matrix in live tissues and organisms with a glycan-binding fluorophore.
bioRxiv
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766047
7.
Tissue-specific transcriptome analyses in Drosophila provide novel insights into the mode of action of the insecticide spinosad and the function of its target, nAChRα6.
Pest Manag Sci
; 79(10): 3913-3925, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37248207
8.
The Voltage-Gated Sodium Channel in Drosophila, Para, Localizes to Dendrites As Well As Axons in Mechanosensitive Chordotonal Neurons.
eNeuro
; 10(6)2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37328295
9.
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Sci Adv
; 8(3): eabl5613, 2022 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35044823
10.
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Neuron
; 106(4): 589-606.e6, 2020 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169171
11.
Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency.
Cell Rep
; 20(11): 2565-2574, 2017 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28903038
12.
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
Am J Neurodegener Dis
; 5(1): 94-101, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27073747
13.
TYROBP genetic variants in early-onset Alzheimer's disease.
Neurobiol Aging
; 48: 222.e9-222.e15, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27658901
14.
Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.
Neurobiol Aging
; 34(9): 2235.e11-3, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23635657