Works matching DE "GLOBOID cell leukodystrophy"
Results: 194
Axonopathy is a compounding factor in the pathogenesis of Krabbe disease.
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- Acta Neuropathologica, 2011, v. 122, n. 1, p. 35, doi. 10.1007/s00401-011-0814-2
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- Article
Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels.
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- Acta Neuropathologica, 2008, v. 115, n. 5, p. 577, doi. 10.1007/s00401-007-0333-3
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- Article
APPENDIX D.
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- Human Life Review, 2005, v. 30, n. 1, p. 87
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- Article
Genetic analysis of Pycr1 and Pycr2 in mice.
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- Genetics, 2021, v. 218, n. 1, p. 1, doi. 10.1093/genetics/iyab048
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- Article
The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease.
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- Acta Neurologica Scandinavica, 2007, v. 116, n. 4, p. 268, doi. 10.1111/j.1600-0404.2007.00867.x
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- Article
Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep.
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- Journal of Veterinary Diagnostic Investigation, 2019, v. 31, n. 1, p. 118, doi. 10.1177/1040638718806685
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- Article
What Is Krabbe?
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- Neonatal Network, 2017, v. 36, n. 2, p. 112, doi. 10.1891/0730-0832.36.2.112
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- Article
Quantification of 3D Brain Microangioarchitectures in an Animal Model of Krabbe Disease.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 10, p. 2384, doi. 10.3390/ijms20102384
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- Article
General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy.
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- Pediatric Anesthesia, 2019, v. 29, n. 10, p. 1053, doi. 10.1111/pan.13714
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- Article
Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease).
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- Pediatric Transplantation, 2002, v. 6, n. 5, p. 427, doi. 10.1034/j.1399-3046.2002.02026.x
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- Article
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
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- 2015
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- Case Study
Electrophysiologic studies in patients with Leukodystrophy.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 8
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- Article
Leukodystrophies with Intracranial Calcifications.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 16
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- Article
Globoid Cell Leukodystrophy (Krabbe Disease).
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 14
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- Article
Genetic investigation of Leukodystrophy in Iran.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 11
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- Article
Cockayne Syndrome.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 18
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- Article
B-cell lymphoma with Mott cell differentiation in a cat.
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- Veterinary Clinical Pathology, 2016, v. 45, n. 2, p. 356, doi. 10.1111/vcp.12343
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Epidemiology of lysosomal storage diseases in Sweden.
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- Acta Paediatrica, 2014, v. 103, n. 12, p. 1258, doi. 10.1111/apa.12807
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- Article
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 38, doi. 10.1186/1750-1172-7-38
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- Article
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
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- Journal of Neuroscience, 2016, v. 36, n. 6, p. 1858, doi. 10.1523/JNEUROSCI.3095-15.2016
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- Article
Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy.
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- Journal of Neuroscience, 2015, p. 6495, doi. 10.1523/JNEUROSCI.4199-14.2015
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- Article
Mechanism of Neuromuscular Dysfunction in Krabbe Disease.
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- Journal of Neuroscience, 2015, v. 35, n. 4, p. 1606, doi. 10.1523/JNEUROSCI.2431-14.2015
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- Article
The Sphingolipid Psychosine Inhibits Fast Axonal Transport in Krabbe Disease by Activation of GSK3β and Deregulation of Molecular Motors.
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- Journal of Neuroscience, 2013, v. 33, n. 24, p. 10048, doi. 10.1523/JNEUROSCI.0217-13.2013
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- Article
Region- and age-dependent alterations of glial-neuronal metabolic interactions correlate with CNS pathology in a mouse model of globoid cell leukodystrophy.
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- Journal of Cerebral Blood Flow & Metabolism, 2013, v. 33, n. 7, p. 1127, doi. 10.1038/jcbfm.2013.64
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- Article
Lysosomal storage disorders: Present and future.
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- Indian Pediatrics, 2015, v. 52, n. 12, p. 1025, doi. 10.1007/s13312-015-0766-z
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- Article
Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.
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- Journal of Neurology, 2016, v. 263, n. 12, p. 2361, doi. 10.1007/s00415-016-8131-2
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- Article
Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids.
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- Journal of Neurology, 2009, v. 256, n. 10, p. 1649, doi. 10.1007/s00415-009-5172-9
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- Article
Effect of psychosine on inducible nitric-oxide synthase expression under different culture conditions: implications for Krabbe Disease.
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- European Review for Medical & Pharmacological Sciences, 2011, v. 15, n. 11, p. 1282
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- Article
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
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- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1191, doi. 10.1093/hmg/10.11.1191
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- Article
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.
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- Human Molecular Genetics, 2000, v. 9, n. 5, p. 787, doi. 10.1093/hmg/9.5.787
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- Article
The neuropathology of phenylketonuria: human and animal studies.
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- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S102, doi. 10.1007/PL00014371
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- Article
Alexander Disease-Associated Glial Fibrillary Acidic Protein Mutations in Mice Induce Rosenthal Fiber Formation and a White Matter Stress Response.
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- Journal of Neuroscience, 2006, v. 26, n. 43, p. 11162, doi. 10.1523/JNEUROSCI.3260-06.2006
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- Article
Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy.
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- Molecular & Cellular Biology, 2003, v. 23, n. 2, p. 744, doi. 10.1128/MCB.23.2.744-753.2003
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- Article
Experiences of Patients and Families Living with Krabbe Disease.
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- Journal of Patient Experience, 2025, p. 1, doi. 10.1177/23743735241309470
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- Article
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
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- Contributions / Prilozi (1857-9345), 2015, v. 36, n. 3, p. 99, doi. 10.1515/prilozi-2015-0084
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- Article
The 96th Neuropathological Meeting of Kyushu District 5 July 2008.
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- 2008
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- Other
Corrigenda.
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- 2008
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- Erratum
Increased TNF-α production by peripheral blood mononuclear cells in patients with Krabbe's disease: effect of psychosine.
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- European Journal of Clinical Investigation, 2007, v. 37, n. 9, p. 742, doi. 10.1111/j.1365-2362.2007.01850.x
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Transplantation of mouse embryonic stem cell-derived oligodendrocytes in the murine model of globoid cell leukodystrophy.
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- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0024-2
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- Article
Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
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- European Journal of Human Genetics, 2010, v. 18, n. 9, p. 985, doi. 10.1038/ejhg.2010.61
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- Article
Psychosine enhances the shedding of membrane microvesicles: Implications in demyelination in Krabbe’s disease.
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- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0178103
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Quantitative DTI metrics in a canine model of Krabbe disease: comparisons versus age-matched controls across multiple ages.
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- Neuroradiology Journal, 2018, v. 31, n. 2, p. 168, doi. 10.1177/1971400917733431
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- Article
Selective Extraction and Effective Separation of Galactosylsphingosine (Psychosine) and Glucosylsphingosine from Other Glycosphingolipids in Pathological Tissue Samples.
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- Neurochemical Research, 2011, v. 36, n. 9, p. 1612, doi. 10.1007/s11064-010-0348-3
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- Article
Are Astrocytes the Missing Link Between Lack of Brain Aspartoacylase Activity and the Spongiform Leukodystrophy in Canavan Disease?
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- Neurochemical Research, 2009, v. 34, n. 9, p. 1523, doi. 10.1007/s11064-009-9958-z
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- Article
Effects of Irradiation on the Postnatal Development of the Brain in a Genetic Mouse Model of Globoid Cell Leukodystrophy.
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- Neurochemical Research, 2007, v. 32, n. 2, p. 377, doi. 10.1007/s11064-006-9247-z
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- Article
EIF2B5 mutations compromise GFAP<sup>+</sup> astrocyte generation in vanishing white matter leukodystrophy.
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- Nature Medicine, 2005, v. 11, n. 3, p. 277, doi. 10.1038/nm1195
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- Article
Leukodystrophy Associated with Mitochondrial Complex 1 Deficiency Due to Mutation in NUBPL Gene—An Unusual Follow-Up Finding.
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- Indian Journal of Radiology & Imaging, 2023, v. 33, n. 1, p. 132, doi. 10.1055/s-0042-1758195
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- Article
Gene therapy: Small RNAs aid cell transplants.
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- Nature, 2010, v. 468, n. 7323, p. 479, doi. 10.1038/468479b
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- Article
Newborn children after PGD in an affected couple with X-linked adrenoleukodystrophy: case report.
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- 2008
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- Publication type:
- Case Study
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 539, doi. 10.1038/jhg.2015.61
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- Article