Detalhe da pesquisa
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301203
2.
Unraveling malignant phenotype of peritumoral tissue: transcriptomic insights into early-stage breast cancer.
Breast Cancer Res
; 26(1): 89, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38831458
3.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
J Med Genet
; 60(4): 406-415, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243518
4.
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
Int J Mol Sci
; 24(18)2023 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762002
5.
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
Glycobiology
; 32(2): 84-100, 2022 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420056
6.
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Am J Med Genet A
; 188(10): 3032-3040, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876338
7.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Hum Mutat
; 42(2): 142-149, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300232
8.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Mol Genet Metab
; 133(4): 397-399, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140212
9.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Clin Genet
; 99(3): 462-474, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368194
10.
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
Am J Med Genet A
; 185(1): 256-260, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098379
11.
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.
Pediatr Allergy Immunol
; 32(3): 566-575, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098103
12.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681750
13.
Persistent organic and inorganic pollutants in the effluents from the textile dyeing industries: Ecotoxicology appraisal via a battery of biotests.
Environ Res
; 196: 110956, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675797
14.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Int J Mol Sci
; 22(10)2021 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34068417
15.
Occurrence of Textile Dyes and Metals in Tunisian Textile Dyeing Effluent: Effects on Oxidative Stress Status and Histological Changes in Balb/c Mice.
Int J Mol Sci
; 22(22)2021 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830450
16.
Educating the Next Generation of Undergraduate URM Cancer Scientists: Results and Lessons Learned from a Cancer Research Partnership Scholar Program.
J Cancer Educ
; 36(2): 406-413, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31728922
17.
Rare CACNA1A mutations leading to congenital ataxia.
Pflugers Arch
; 472(7): 791-809, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32458086
18.
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Ann Neurol
; 85(5): 740-751, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30873657
19.
Okur-Chung neurodevelopmental syndrome in a patient from Spain.
Am J Med Genet A
; 182(1): 20-24, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729156
20.
Calcium Alginate as a Novel Sealing Agent for Colloidosomes.
Langmuir
; 36(29): 8398-8406, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633974