Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
2.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218524
3.
KCa3.1 differentially regulates trachea and bronchi epithelial gene expression in a chronic-asthma mouse model.
Physiol Genomics
; 54(7): 273-282, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35658672
4.
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
Int J Mol Sci
; 23(18)2022 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142455
5.
Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.
Int J Mol Sci
; 22(21)2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34769402
6.
Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment.
Int J Mol Sci
; 22(10)2021 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34067708
7.
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.
Hum Mutat
; 40(6): 742-748, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30851139
8.
Peripheral localization of the epithelial sodium channel in the apical membrane of bronchial epithelial cells.
Exp Physiol
; 104(6): 866-875, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924990
9.
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia.
Neurobiol Dis
; 109(Pt A): 44-53, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28982591
10.
Assessment of copy number variations in 120 patients with Poland syndrome.
BMC Med Genet
; 17(1): 89, 2016 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884122
11.
Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.
Neurobiol Dis
; 64: 48-59, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24361555
12.
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
BMC Med Genet
; 15: 63, 2014 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24885342
13.
Compensatory molecular and functional mechanisms in nervous system of the Grm1(crv4) mouse lacking the mGlu1 receptor: a model for motor coordination deficits.
Cereb Cortex
; 23(9): 2179-89, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791805
14.
Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.
Stem Cell Res
; 76: 103333, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38350246
15.
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Front Mol Neurosci
; 17: 1268013, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38650658
16.
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.
Stem Cell Res
; 72: 103232, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865062
17.
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes.
Cells
; 12(15)2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566031
18.
Novel tricyclic pyrrolo-quinolines as pharmacological correctors of the mutant CFTR chloride channel.
Sci Rep
; 13(1): 7604, 2023 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165082
19.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Front Pediatr
; 10: 847549, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35573960
20.
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Orphanet J Rare Dis
; 17(1): 286, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854306