Detalhe da pesquisa
1.
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Clin Genet
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468396
2.
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653949
3.
Natural Product Chemistry and Biological Research.
Int J Mol Sci
; 25(7)2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38612583
4.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Int J Mol Sci
; 25(5)2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474159
5.
Results of the compassionate program of inotuzumab ozogamicin for adult patients with relapsed or refractory acute lymphoblastic leukemia in Spain.
Eur J Haematol
; 111(3): 485-490, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37381686
6.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260368
7.
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.
Int J Mol Sci
; 24(2)2023 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675175
8.
Neuronal Prosurvival Role of Ceramide Synthase 2 by Olidogendrocyte-to-Neuron Extracellular Vesicle Transfer.
Int J Mol Sci
; 24(6)2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983060
9.
Involvement of NO/cGMP Signaling Pathway, Ca2+ and K+ Channels on Spasmolytic Effect of Everlasting Flower Polyphenolic Extract (Helichrysum stoechas (L.) Moench).
Int J Mol Sci
; 23(22)2022 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430899
10.
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Int J Mol Sci
; 23(15)2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955564
11.
Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.
Exp Eye Res
; 211: 108714, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390733
12.
Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Exp Eye Res
; 207: 108533, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33741323
13.
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Exp Eye Res
; 212: 108761, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492281
14.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307445
15.
Jasonia glutinosa (L.) DC., a traditional herbal medicine, reduces inflammation, oxidative stress and protects the intestinal barrier in a murine model of colitis.
Inflammopharmacology
; 28(6): 1717-1734, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31410747
16.
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Hum Mutat
; 40(12): 2365-2376, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397521
17.
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Ophthalmology
; 126(8): 1181-1188, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30902645
18.
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold.
PLoS Biol
; 14(4): e1002440, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27070899
19.
KCa3.1 Transgene Induction in Murine Intestinal Epithelium Causes Duodenal Chyme Accumulation and Impairs Duodenal Contractility.
Int J Mol Sci
; 20(5)2019 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30857243
20.
Structural insights into the Ca2+ and PI(4,5)P2 binding modes of the C2 domains of rabphilin 3A and synaptotagmin 1.
Proc Natl Acad Sci U S A
; 110(51): 20503-8, 2013 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302762