Detalhe da pesquisa
1.
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
Hum Mol Genet
; 33(9): 768-786, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280232
2.
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
Hum Mol Genet
; 32(2): 333-350, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35994048
3.
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.
Neurobiol Dis
; 197: 106536, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38763444
4.
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.
Neuropediatrics
; 54(3): 211-216, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36693417
5.
Converging Role for REEP1/SPG31 in Oxidative Stress.
Int J Mol Sci
; 24(4)2023 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834939
6.
Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression.
Int J Mol Sci
; 24(6)2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982531
7.
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
Int J Mol Sci
; 24(23)2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38068960
8.
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Clin Genet
; 101(2): 260-264, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34766628
9.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498898
10.
Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.
Int J Mol Sci
; 22(15)2021 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34361091
11.
Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.
Int J Mol Sci
; 22(16)2021 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445111
12.
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Hum Mutat
; 41(7): 1232-1237, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333447
13.
Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement Therapy.
Mol Pharm
; 17(12): 4510-4521, 2020 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33112630
14.
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.
Neuropediatrics
; 51(6): 425-429, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392611
15.
Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma.
Int J Mol Sci
; 21(17)2020 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32867069
16.
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
Hum Mol Genet
; 24(11): 3248-56, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736212
17.
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
J Med Genet
; 58(8): 543-546, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135091
18.
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.
Biochem Biophys Res Commun
; 477(1): 137-143, 2016 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27291147
19.
SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.
Ann Clin Transl Neurol
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38837640
20.
Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain.
Biochim Biophys Acta Mol Basis Dis
; 1869(6): 166756, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37209872