Works matching Globoid cell leukodystrophy
Results: 313
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
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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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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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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Multipotent Stromal Cells Alleviate Inflammation, Neuropathology, and Symptoms Associated with Globoid Cell Leukodystrophy in the Twitcher Mouse.
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- Stem Cells, 2013, v. 31, n. 8, p. 1523, doi. 10.1002/stem.1397
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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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Globoid Cell Leukodystrophy (Krabbe's Disease): Update.
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- Journal of Child Neurology, 2003, v. 18, n. 9, p. 595, doi. 10.1177/08830738030180090201
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Inhibition of angiogenesis by β-galactosylceramidase deficiency in globoid cell leukodystrophy.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 9, p. 2859, doi. 10.1093/brain/awt215
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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
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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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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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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Neural Stem Cell Gene Therapy Ameliorates Pathology and Function in a Mouse Model of Globoid Cell Leukodystrophy.
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- Stem Cells, 2011, v. 29, n. 10, p. 1559, doi. 10.1002/stem.701
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Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy.
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- FASEB Journal, 2005, v. 19, n. 11, p. 1549, doi. 10.1096/fj.05-3826fje
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Globoid Cell Leukodystrophy in Cairn and West Highland White Terriers.
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- Journal of Heredity, 1999, v. 90, n. 1, p. 138, doi. 10.1093/jhered/90.1.138
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Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.
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- Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 459, doi. 10.1111/j.1440-1754.2008.01340.x
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Bone Marrow Transplantation Augments the Effect of Brain- and Spinal Cord-Directed Adeno-Associated Virus 2/5 Gene Therapy by Altering Inflammation in the Murine Model of Globoid-Cell Leukodystrophy.
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- Journal of Neuroscience, 2011, v. 31, n. 27, p. 9945, doi. 10.1523/JNEUROSCI.1802-11.2011
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Macrophages Counteract Demyelination in a Mouse Model of Globoid Cell Leukodystrophy.
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- Journal of Neuroscience, 2011, v. 31, n. 10, p. 3610, doi. 10.1523/JNEUROSCI.6344-10.2011
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Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones.
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- Journal of Neuroscience, 2010, v. 30, n. 16, p. 5489, doi. 10.1523/JNEUROSCI.6383-09.2010
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Central Nervous System Pathology Progresses Independently of KC and CXCR2 in Globoid-Cell Leukodystrophy.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0064647
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Optic Nerve Enlargement Associated with Globoid Cell Leukodystrophy.
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- Canadian Journal of Neurological Sciences, 2006, v. 33, n. 2, p. 235, doi. 10.1017/S0317167100005047
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- Article
888. Characterization of New Murine Models of Globoid Cell Leukodystrophy: Relevance for Gene Therapy Applications and Studies on Disease Pathogenesis.
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- Molecular Therapy, 2006, v. 13, p. S342, doi. 10.1016/j.ymthe.2006.08.977
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212. Delivery of Galactocerebrosidase Activity to the Peripheral Nervous System of Mice with Globoid Cell Leukodystrophy (Krabbe Disease) by Intramuscular Injection.
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- Molecular Therapy, 2006, v. 13, p. S82, doi. 10.1016/j.ymthe.2006.08.237
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424. Intracranial AAV5 Synergizes with Non-Myeloablative Bone Marrow Transplantation in the Murine Model of Globoid-Cell Leukodystrophy
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- 2005
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- Abstract
AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy
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- Molecular Therapy, 2005, v. 11, n. 5, p. 734, doi. 10.1016/j.ymthe.2004.12.020
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Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy.
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- FASEB Journal, 2007, v. 21, n. 10, p. 2520, doi. 10.1096/fj.06-6169com
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The peripheral neuropathy of canine globoid-cell leukodystrophy (Krabbe-type).
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- Acta Neuropathologica, 1970, v. 16, n. 3, p. 226, doi. 10.1007/BF00687362
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Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV Tat protein transduction domain.
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- Journal of Neurochemistry, 2008, v. 104, n. 4, p. 1055, doi. 10.1111/j.1471-4159.2007.05030.x
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Exploring the globoid cell leukodystrophy protein network and therapeutic interventions.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-66437-8
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AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2
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- Molecular Therapy, 2005, v. 12, n. 3, p. 422, doi. 10.1016/j.ymthe.2005.04.019
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Fetal globoid cell leukodystrophy in one of twins.
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- Acta Neuropathologica, 1979, v. 47, n. 2, p. 151, doi. 10.1007/BF00717039
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Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases.
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- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 232, doi. 10.1159/000112166
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A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.
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- Frontiers in Neuroscience, 2022, v. 16, p. 01, doi. 10.3389/fnins.2022.998275
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Globoid cell leukodystrophy ( Krabbe's disease) in a Japanese domestic cat.
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- Neuropathology, 2014, v. 34, n. 2, p. 190, doi. 10.1111/neup.12076
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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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Characteristic inclusions in the kidney of canine globoid cell leukodystrophy.
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- Acta Neuropathologica, 1986, v. 69, n. 1/2, p. 33, doi. 10.1007/BF00687036
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Demyelination in the spinal cord of murine globoid cell leukodystrophy (the twitcher mouse).
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- Acta Neuropathologica, 1984, v. 62, n. 4, p. 298, doi. 10.1007/BF00687612
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Globoid cell leukodystrophy: Specialized contact of globoid cell with astrocyte in the brain of twitcher mouse.
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- Acta Neuropathologica, 1982, v. 58, n. 4, p. 237, doi. 10.1007/BF00688603
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Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.
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- 2020
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- journal article
Identifying altered developmental pathways in human globoid cell leukodystrophy iPSCs-derived NSCs using transcriptome profiling.
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- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09285-6
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Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy.
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- Cells (2073-4409), 2023, v. 12, n. 7, p. 993, doi. 10.3390/cells12070993
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Globoid Cell Leukodystrophy (Krabbe Disease): An Update.
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- ImmunoTargets & Therapy, 2023, v. 12, p. 105, doi. 10.2147/ITT.S424622
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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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Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation.
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- Journal of Human Genetics, 2006, v. 51, n. 6, p. 548, doi. 10.1007/s10038-006-0396-3
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Persisting Irritability with Fever Is Not Always Meningitis.
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- Journal of Pediatric Neurosciences, 2022, v. 17, n. 3, p. 253, doi. 10.4103/jpn.jpn_283_20
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Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 10, doi. 10.3390/ijns10010010
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Thickening of the cauda equina roots: a common finding in Krabbe disease.
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- 2016
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- journal article
Impaired spermatogenesis in the twitcher mouse: A morphological evaluation from the seminiferous tubules to epididymal transit.
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- Systems Biology in Reproductive Medicine, 2017, v. 63, n. 2, p. 77, doi. 10.1080/19396368.2016.1271918
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First hematopoietic stem cell transplantation in a child with late infantile Krabbe disease in Poland.
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- Polish Journal of Pediatrics / Pediatria Polska, 2021, v. 96, n. 1, p. 68, doi. 10.5114/POLP.2021.104831
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Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
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- 2019
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- journal article