Detalhe da pesquisa
1.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
2.
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Hum Genet
; 142(8): 1055-1076, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37199746
3.
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy.
Hum Mutat
; 42(1): 102-116, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252173
4.
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
Brain
; 142(7): 1905-1920, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31143934
5.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Neurobiol Dis
; 124: 14-28, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389403
6.
Content and source analysis of popular tweets following a recent case of diphtheria in Spain.
Eur J Public Health
; 29(1): 117-122, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084926
7.
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
Ann Neurol
; 82(4): 615-621, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28976605
8.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Am J Hum Genet
; 95(2): 209-17, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065913
9.
[Effectiveness of anti-CGRP monoclonal antibodies in the preventive treatment of migraine: A prospective study of 63 patients]. / Efectividad de anticuerpos monoclonales anti-PRGC en el tratamiento preventivo de la migraña: estudio prospectivo de 63 pacientes.
Med Clin (Barc)
; 160(8): 341-346, 2023 04 21.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-36623986
10.
AA-amyloidosis in cats (Felis catus) housed in shelters.
PLoS One
; 18(3): e0281822, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36989207
11.
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
J Neurol Neurosurg Psychiatry
; 88(10): 894-896, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28473625
12.
Tenacious educational neuromyths: Prevalence among teachers and an intervention.
Trends Neurosci Educ
; 29: 100192, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36470620
13.
Is project-based learning effective among kindergarten and elementary students? A systematic review.
PLoS One
; 16(4): e0249627, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798245
14.
Abnormal Prothrombin (PIVKA-II) Expression in Canine Tissues as an Indicator of Anticoagulant Poisoning.
Animals (Basel)
; 11(9)2021 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573578
15.
Can Research Contribute to Improve Educational Practice?
Span J Psychol
; 23: e33, 2020 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938516
16.
An Attempt to Correct Erroneous Ideas Among Teacher Education Students: The Effectiveness of Refutation Texts.
Front Psychol
; 11: 577738, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33162917
17.
The effectiveness of refutation texts to correct misconceptions among educators.
J Exp Psychol Appl
; 26(3): 411-421, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31971418
18.
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.
Sci Rep
; 10(1): 20182, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214630
19.
LEXIN: a lexical database from Spanish kindergarten and first-grade readers.
Behav Res Methods
; 41(4): 1009-17, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19897809
20.
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study.
Parkinsonism Relat Disord
; 63: 191-194, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862453