Detalhe da pesquisa
1.
Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegeneration.
Am J Med Genet A
; 191(5): 1384-1387, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36750760
2.
Lactoferrin: from the structure to the functional orchestration of iron homeostasis.
Biometals
; 36(3): 391-416, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214975
3.
Mitochondrial Iron in Human Health and Disease.
Annu Rev Physiol
; 81: 453-482, 2019 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30485761
4.
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.
Int J Mol Sci
; 24(15)2023 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569253
5.
Off-resonance saturation as an MRI method to quantify mineral- iron in the post-mortem brain.
Magn Reson Med
; 87(3): 1276-1288, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655092
6.
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Mol Genet Metab
; 137(1-2): 26-32, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35878504
7.
Conservative Iron Chelation for Neuroferritinopathy.
Mov Disord
; 37(9): 1948-1952, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35996824
8.
Pallidal degenerations and related disorders: an update.
J Neural Transm (Vienna)
; 129(5-6): 521-543, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34363531
9.
Unraveling the interplay between iron homeostasis, ferroptosis and extramedullary hematopoiesis.
Pharmacol Res
; 183: 106386, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35933006
10.
Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.
Can J Neurol Sci
; 49(3): 338-351, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34082843
11.
Pathogenic mechanism and modeling of neuroferritinopathy.
Cell Mol Life Sci
; 78(7): 3355-3367, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439270
12.
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.
Neurol Sci
; 43(3): 1791-1797, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559338
13.
Iron Homeostasis in the CNS: An Overview of the Pathological Consequences of Iron Metabolism Disruption.
Int J Mol Sci
; 23(9)2022 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562883
14.
MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study.
Neuroimage
; 245: 118752, 2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34823024
15.
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
Neuropathol Appl Neurobiol
; 47(1): 26-42, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32464705
16.
Liver iron sensing and body iron homeostasis.
Blood
; 133(1): 18-29, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401708
17.
Iron metabolism under conditions of ineffective erythropoiesis in ß-thalassemia.
Blood
; 133(1): 51-58, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401707
18.
Seizure-mediated iron accumulation and dysregulated iron metabolism after status epilepticus and in temporal lobe epilepsy.
Acta Neuropathol
; 142(4): 729-759, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34292399
19.
Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.
Am J Med Genet A
; 185(2): 579-583, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33251766
20.
Abnormal iron status is associated with an increased risk of mortality in patients on peritoneal dialysis.
Nutr Metab Cardiovasc Dis
; 31(4): 1148-1155, 2021 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33618923