Detalhe da pesquisa
1.
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Neurogenetics
; 21(1): 29-37, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655922
2.
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
N Engl J Med
; 377(17): 1630-1638, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28976817
3.
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation.
Biol Blood Marrow Transplant
; 25(3): 538-548, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30292747
4.
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
Brain
; 141(4): 979-988, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444212
5.
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy.
Brain
; 140(4): 953-966, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28375456
6.
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.
Biochim Biophys Acta
; 1862(10): 1861-70, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27425035
7.
CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease.
Brain
; 139(Pt 3): 953-70, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912634
8.
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.
Brain
; 139(Pt 6): 1735-46, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27068048
9.
Gene therapy for metachromatic leukodystrophy.
J Neurosci Res
; 94(11): 1169-79, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638601
10.
CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease.
Brain
; 138(Pt 8): 2383-98, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26141492
11.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Brain
; 138(Pt 2): 284-92, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527826
12.
Transfusion independence and HMGA2 activation after gene therapy of human ß-thalassaemia.
Nature
; 467(7313): 318-22, 2010 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20844535
13.
Inhibiting cholesterol degradation induces neuronal sclerosis and epileptic activity in mouse hippocampus.
Eur J Neurosci
; 41(10): 1345-55, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847620
14.
Case definition and classification of leukodystrophies and leukoencephalopathies.
Mol Genet Metab
; 114(4): 494-500, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649058
15.
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Brain
; 137(Pt 3): 693-706, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24480483
16.
Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy.
Hum Mol Genet
; 21(5): 1062-77, 2012 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22095690
17.
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
J Neurol Neurosurg Psychiatry
; 90(12): 1375-1376, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213485
18.
Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.
Brain
; 136(Pt 8): 2432-43, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794606
19.
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
Biochim Biophys Acta
; 1822(9): 1465-74, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22483867
20.
Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?
Biochim Biophys Acta
; 1822(9): 1475-88, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22353463