Works about LEUKODYSTROPHY
Results: 489
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy.
- Published in:
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00309-z
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- Publication type:
- Article
Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes.
- Published in:
- Neurology International, 2025, v. 17, n. 2, p. 28, doi. 10.3390/neurolint17020028
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- Publication type:
- Article
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 3, p. 228, doi. 10.2350/14-09-1551-CR.1
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- Publication type:
- Article
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
- Published in:
- Human Genetics, 2020, v. 139, n. 5, p. 615, doi. 10.1007/s00439-020-02144-4
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- Publication type:
- Article
A study on interoperability between two Personal Health Train infrastructures in leukodystrophy data analysis.
- Published in:
- Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03450-6
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- Publication type:
- Article
An early-onset case of adult-onset autosomal dominant leukodystrophy.
- Published in:
- 2024
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- Publication type:
- Letter
A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 9, p. 3363, doi. 10.1007/s10072-023-06767-z
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- Publication type:
- Article
Clinical and radiological spectrum of anti-myelin oligodendrocyte glycoprotein (MOG) antibody encephalitis: single-center observational study.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 7, p. 2475, doi. 10.1007/s10072-023-06686-z
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- Publication type:
- Article
New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy).
- Published in:
- 2021
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- Publication type:
- Editorial
Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 7, p. 2955, doi. 10.1007/s10072-021-05096-3
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- Publication type:
- Article
Marchiafava–Bignami disease–like corpus callosum lesions due to moyamoya disease.
- Published in:
- 2021
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- Publication type:
- Letter
Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
- Published in:
- 2020
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- Publication type:
- journal article
A novel mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids.
- Published in:
- 2019
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- Publication type:
- Case Study
Decreasing <sup>123</sup>I-ioflupane SPECT accumulation and <sup>123</sup>I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene.
- Published in:
- 2019
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- Publication type:
- Case Study
Highlights of the Issue 12, 2018.
- Published in:
- 2018
- Publication type:
- journal article
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
- Published in:
- 2018
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- Publication type:
- journal article
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.
- Published in:
- 2016
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- Publication type:
- journal article
1,2-Dichloroethane-induced toxic leukoencephalopathy with a brain biopsy.
- Published in:
- 2015
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- Publication type:
- Letter
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 2, p. 323, doi. 10.1007/s10072-014-1944-9
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- Publication type:
- Article
Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl<sup>−</sup> channel function and trafficking.
- Published in:
- Journal of Physiology, 2017, v. 595, n. 22, p. 6993, doi. 10.1113/JP275087
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- Publication type:
- Article
Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.
- Published in:
- Journal of Physiology, 2015, v. 593, n. 18, p. 4165, doi. 10.1113/JP270467
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- Publication type:
- Article
Detection of diffusely abnormal white matter in multiple sclerosis on multiparametric brain MRI using semi-supervised deep learning.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-67722-2
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- Publication type:
- Article
Investigating Microstructural Changes in White Matter in Multiple Sclerosis: A Systematic Review and Meta-Analysis of Neurite Orientation Dispersion and Density Imaging.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1151, doi. 10.3390/brainsci11091151
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- Publication type:
- Article
Expanding the Clinical and Mutational Spectrum of the PLP1 -Related Hypomyelination of Early Myelinated Structures (HEMS).
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 93, doi. 10.3390/brainsci11010093
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- Publication type:
- Article
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 762, doi. 10.3390/brainsci10110762
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- Publication type:
- Article
TREX1 cytosolic DNA degradation correlates with autoimmune disease and cancer immunity.
- Published in:
- Clinical & Experimental Immunology, 2023, v. 211, n. 3, p. 193, doi. 10.1093/cei/uxad017
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- Publication type:
- Article
Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America.
- Published in:
- 2023
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- Publication type:
- Case Study
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/453105
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- Publication type:
- Article
A Late Juvenile Onset Type Metachromatic Leukodystrophy Case Presenting With Continuous Pseudobulbar Crying.
- Published in:
- Cumhuriyet Medical Journal, 2022, v. 44, n. 2, p. 228, doi. 10.7197/cmj.1088934
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- Publication type:
- Article
Adrenoleukodystrophy: Magnetic Resonance and diffusion weighted imaging findings.
- Published in:
- Cumhuriyet Medical Journal, 2018, v. 40, n. 3, p. 308, doi. 10.7197/223.vi.417858
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- Publication type:
- Article
Report of a Case that Expands the Phenotype of Infantile Krabbe Disease.
- Published in:
- American Journal of Case Reports, 2019, v. 20, p. 643, doi. 10.12659/AJCR.914275
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- Publication type:
- Article
Detection of neutral lipids in formalin-fixed, sucrose-impregnated tissue using the Oil Red O stain.
- Published in:
- Canadian Journal of Pathology, 2018, v. 10, p. 23
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- Publication type:
- Article
The p.D417N variant of TUBB4A as a possible cause of hereditary spastic paraplegia: a case report.
- Published in:
- Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2024, v. 60, n. 1, p. 1, doi. 10.1186/s41983-024-00905-w
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- Publication type:
- Article
The role of astrocytes in Autosomal-dominant leukodystrophy (ADLD).
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 179
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- Publication type:
- Article
Lipid signalling via phosphoinositides in autosomal dominant leukodystrophy with autonomic disease (ADLD).
- Published in:
- 2018
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- Publication type:
- Abstract
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis.
- Published in:
- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00215
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- Publication type:
- Article
Suppressing N-Acetyl-L-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy.
- Published in:
- Journal of Neuroscience, 2017, v. 37, n. 2, p. 413, doi. 10.1523/JNEUROSCI.2013-16.2017
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- Publication type:
- Article
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 43, p. 14501, doi. 10.1523/JNEUROSCI.1056-15.2015
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- Publication type:
- Article
Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 34, p. 12002, doi. 10.1523/JNEUROSCI.1668-15.2015
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- Publication type:
- Article
Astrocytic TDP-43 Pathology in Alexander Disease.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 19, p. 6448, doi. 10.1523/JNEUROSCI.0248-14.2014
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- Publication type:
- Article
Comparison of Five Peptide Vectors for Improved Brain Delivery of the Lysosomal Enzyme Arylsulfatase A.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 9, p. 3122, doi. 10.1523/JNEUROSCI.4785-13.2014
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- Publication type:
- Article
Gait Abnormalities and Progressive Myelin Degeneration in a New Murine Model of Pelizaeus-Merzbacher Disease with Tandem Genomic Duplication.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 29, p. 11788, doi. 10.1523/JNEUROSCI.1336-13.2013
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- Publication type:
- Article
The Sphingolipid Psychosine Inhibits Fast Axonal Transport in Krabbe Disease by Activation of GSK3β and Deregulation of Molecular Motors.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 24, p. 10048, doi. 10.1523/JNEUROSCI.0217-13.2013
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- Publication type:
- Article
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
- Published in:
- Developmental Medicine & Child Neurology, 2019, v. 61, n. 12, p. 1439, doi. 10.1111/dmcn.14332
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- Publication type:
- Article
'Leukodystrophy-like' phenotype in children with myelin oligodendrocyte glycoprotein antibody-associated disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Corrigendum.
- Published in:
- 2017
- Publication type:
- journal article
Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
British Paediatric Neurology Association Annual Meeting, 27-29 January 2016, City Hall, Sheffield, England.
- Published in:
- 2016
- Publication type:
- journal article
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
- Published in:
- 2017
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- Publication type:
- journal article