Found: 54
Select item for more details and to access through your institution.
Neuronal Cholesterol Accumulation Induced by Cyp46a1 Down-Regulation in Mouse Hippocampus Disrupts Brain Lipid Homeostasis.
- Published in:
- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00211
- By:
- Publication type:
- Article
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
- Published in:
- 2012
- By:
- Publication type:
- journal article
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 51, doi. 10.1186/1750-1172-7-51
- By:
- Publication type:
- Article
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.
- Published in:
- 2016
- By:
- Publication type:
- journal article
CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open.
- Published in:
- 2015
- By:
- Publication type:
- journal article
CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. e326, doi. 10.1093/brain/awu233
- By:
- Publication type:
- Article
Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 284, doi. 10.1093/brain/awu353
- By:
- Publication type:
- Article
O5‐06‐04: AAV‐CYP46A1 BRAIN DELIVERY MITIGATES ALZHEIMER'S DISEASE: FROM MOUSE MODELS TO NON‐HUMAN PRIMATES.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1658, doi. 10.1016/j.jalz.2018.06.3028
- By:
- Publication type:
- Article
The expanding world of primary adrenal insufficiencies.
- Published in:
- European Journal of Endocrinology, 1997, v. 137, n. 1, p. 10, doi. 10.1530/eje.0.1370010
- By:
- Publication type:
- Article
X-linked adrenoleukodystrophy enigma: How does the ALD peroxisomal transporter mutation affect CNS glia?
- Published in:
- Glia, 2000, v. 29, n. 2, p. 186, doi. 10.1002/(SICI)1098-1136(20000115)29:2<186::AID-GLIA13>3.0.CO;2-5
- By:
- Publication type:
- Article
AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22593-3
- By:
- Publication type:
- Article
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22114-2
- By:
- Publication type:
- Article
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
- Published in:
- Nature Medicine, 2014, v. 20, n. 5, p. 542, doi. 10.1038/nm.3510
- By:
- Publication type:
- Article
Hippocampal CYP46A1 overexpression is beneficial in rodent models of Alzheimer’s disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P758, doi. 10.1016/j.jalz.2015.06.1691
- By:
- Publication type:
- Article
AAV gene therapy with cholesterol 24-hydroxylase improves Alzheimer's phenotype of tau mouse model
- Published in:
- 2011
- By:
- Publication type:
- Abstract
Enhanced conversion of cholesterol to 24s-hydroxycholesterol decreases amyloid-ß and prevents alzheimer phenotype of app23 mouse model
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Axons need glial peroxisomes.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 936, doi. 10.1038/ng0807-936
- By:
- Publication type:
- Article
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
- Published in:
- Nature Genetics, 2004, v. 36, n. 3, p. 225, doi. 10.1038/ng1303
- By:
- Publication type:
- Article
CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029872
- By:
- Publication type:
- Article
Gene therapy for metachromatic leukodystrophy.
- Published in:
- Journal of Neuroscience Research, 2016, v. 94, n. 11, p. 1169, doi. 10.1002/jnr.23792
- By:
- Publication type:
- Article
Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 8, p. 1277, doi. 10.1007/s00415-009-5114-6
- By:
- Publication type:
- Article
Mutational Analysis of an X-Linked Adrenoleukodystrophy (ALD) Patient with Detectable ALD Protein<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 804, n. 1, p. 756, doi. 10.1111/j.1749-6632.1996.tb18692.x
- By:
- Publication type:
- Article
X-Linked Adrenoleukodystrophy.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 804, n. 1, p. 461, doi. 10.1111/j.1749-6632.1996.tb18637.x
- By:
- Publication type:
- Article
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 693, doi. 10.1093/brain/awt361
- By:
- Publication type:
- Article
Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2432, doi. 10.1093/brain/awt143
- By:
- Publication type:
- Article
T-cell receptor V β gene usage in CSF lymphocytes in X-linked adrenoleukodystrophy.
- Published in:
- Journal of Molecular Recognition, 2005, v. 18, n. 3, p. 254, doi. 10.1002/jmr.727
- By:
- Publication type:
- Article
General Aspects and Neuropathology of X-Linked Adrenoleukodystrophy.
- Published in:
- Brain Pathology, 2010, v. 20, n. 4, p. 817, doi. 10.1111/j.1750-3639.2010.00390.x
- By:
- Publication type:
- Article
Current and Future Pharmacological Treatment Strategies in X-Linked Adrenoleukodystrophy.
- Published in:
- Brain Pathology, 2010, v. 20, n. 4, p. 845, doi. 10.1111/j.1750-3639.2010.00393.x
- By:
- Publication type:
- Article
Hematopoietic Stem Cell Transplantation and Hematopoietic Stem Cell Gene Therapy in X-Linked Adrenoleukodystrophy.
- Published in:
- Brain Pathology, 2010, v. 20, n. 4, p. 857, doi. 10.1111/j.1750-3639.2010.00394.x
- By:
- Publication type:
- Article
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 859, doi. 10.1007/s10545-012-9560-4
- By:
- Publication type:
- Article
Peroxisomes, Myelination, and Axonal Integrity in the CNS.
- Published in:
- Neuroscientist, 2009, v. 15, n. 4, p. 367, doi. 10.1177/1073858409336297
- By:
- Publication type:
- Article
Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 5, p. 1062, doi. 10.1093/hmg/ddr536
- By:
- Publication type:
- Article
Adeno-associated Virus Gene Therapy With Cholesterol 24-Hydroxylase Reduces the Amyloid Pathology Before or After the Onset of Amyloid Plaques in Mouse Models of Alzheimer's Disease.
- Published in:
- Molecular Therapy, 2010, v. 18, n. 1, p. 44, doi. 10.1038/mt.2009.175
- By:
- Publication type:
- Article
429. AAV5-Mediated Delivery of Human Aryl Sulfatase A (hARSA) Prevents Sufatide Storage and Neuropathological Phenotype in Metachromatic Leukodystrophy (MLD) Mice
- Published in:
- 2005
- By:
- Publication type:
- Abstract
Transduced CD34<sup>+</sup> cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice
- Published in:
- Molecular Therapy, 2003, v. 7, n. 3, p. 317, doi. 10.1016/S1525-0016(03)00002-9
- By:
- Publication type:
- Article
Adrenoleukodystrophy in France: An Epidemiological Study.
- Published in:
- Neuroepidemiology, 1993, v. 12, n. 4, p. 229, doi. 10.1159/000110321
- By:
- Publication type:
- Article
Inhibiting cholesterol degradation induces neuronal sclerosis and epileptic activity in mouse hippocampus.
- Published in:
- European Journal of Neuroscience, 2015, v. 41, n. 10, p. 1345, doi. 10.1111/ejn.12911
- By:
- Publication type:
- Article
Gene therapy for leukodystrophies.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. R1, p. R42, doi. 10.1093/hmg/ddr142
- By:
- Publication type:
- Article
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 2005, doi. 10.1093/hmg/ddq082
- By:
- Publication type:
- Article
Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 1, p. 147, doi. 10.1093/hmg/ddp475
- By:
- Publication type:
- Article
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 15, p. 2768, doi. 10.1093/hmg/ddp212
- By:
- Publication type:
- Article
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 1, p. 53, doi. 10.1093/hmg/ddi425
- By:
- Publication type:
- Article
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1293, doi. 10.1093/hmg/ddi140
- By:
- Publication type:
- Article
Linkage of adrenoleukodystrophy to a polymorphic DNA probe.
- Published in:
- Annals of Neurology, 1987, v. 21, n. 4, p. 349, doi. 10.1002/ana.410210406
- By:
- Publication type:
- Article
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
- Published in:
- Neurogenetics, 2020, v. 21, n. 1, p. 29, doi. 10.1007/s10048-019-00596-z
- By:
- Publication type:
- Article