Works matching DE "GLOBOID cell leukodystrophy"
Results: 194
Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.
- Published in:
- 2017
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- Publication type:
- Case Study
Peripheral neuropathy in late-onset Krabbe disease: report of three cases.
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- Neurological Sciences, 2013, v. 34, n. 1, p. 79, doi. 10.1007/s10072-012-0956-6
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- Publication type:
- Article
Sporadic diffuse leucoencephalopathy with axonal spheroids: report of a profuse and rapid cortical-spinal degeneration.
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- Neurological Sciences, 2012, v. 33, n. 4, p. 905, doi. 10.1007/s10072-011-0817-8
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- Publication type:
- Article
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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- Publication type:
- 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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- Publication type:
- 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
The Ethics of Krabbe Newborn Screening.
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- Public Health Ethics, 2013, v. 6, n. 1, p. 114, doi. 10.1093/phe/phs033
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- Article
The Sad Story of Newborn Screening for Krabbe: The Need for Good Governance.
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- Public Health Ethics, 2013, v. 6, n. 1, p. 123, doi. 10.1093/phe/pht008
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- Article
Newborn Screening for Krabbe Disease: What Illinois Can Learn from New York.
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- Public Health Ethics, 2013, v. 6, n. 1, p. 119, doi. 10.1093/phe/phs038
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- Article
Krabbe Newborn Screening: The Issue of Informed Consent.
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- Public Health Ethics, 2013, v. 6, n. 1, p. 126, doi. 10.1093/phe/pht009
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- Publication type:
- Article
Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
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- Cellular & Molecular Life Sciences, 2007, v. 64, n. 1, p. 50, doi. 10.1007/s00018-006-6182-8
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Ethical issues with testing and treatment for Krabbe disease.
- Published in:
- 2019
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- Publication type:
- journal article
Recognizable phenotypes associated with intracranial calcification.
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- Developmental Medicine & Child Neurology, 2013, v. 55, n. 1, p. 46, doi. 10.1111/j.1469-8749.2012.04437.x
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- Publication type:
- Article
Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 4, p. 376, doi. 10.1111/j.1469-8749.2011.04167.x
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- Publication type:
- Article
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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- Article
A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia -- a role for oxidative damage.
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- FASEB Journal, 2007, v. 21, n. 5, p. A401, doi. 10.1096/fasebj.21.5.a401
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- Article
Hepatic toxicity in twitcher mice: effect on peroxisomes.
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- FASEB Journal, 2007, v. 21, n. 5, p. A400, doi. 10.1096/fasebj.21.5.a400
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- Publication type:
- Article
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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- Publication type:
- Article
Detection of the Neurotoxin Psychosine in Samples of Peripheral Blood: Application in Diagnostics and Followup of Krabbe Disease.
- Published in:
- 2012
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- Publication type:
- Letter
Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy.
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- Journal of Neurochemistry, 2006, v. 97, n. 6, p. 1585, doi. 10.1111/j.1471-4159.2006.03986.x
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- Publication type:
- Article
Symposium S01: The Role of Astrocytes in Disease and Regeneration.
- Published in:
- 2006
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- Publication type:
- Other
IL-6 DEFICIENCY ENHANCES PATHOLOGY IN TWITCHER MICE.
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- 1999
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- Publication type:
- Abstract
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
Gene therapy: Small RNAs aid cell transplants.
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- Nature, 2010, v. 468, n. 7323, p. 479, doi. 10.1038/468479b
- Publication type:
- Article
Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft.
- Published in:
- 2018
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- Publication type:
- journal article
Multiple Cranial Nerve Enhancement: Uncommon Imaging Finding in Early Infantile Krabbe's Disease.
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- Journal of Neuroimaging, 2010, v. 20, n. 2, p. 195, doi. 10.1111/j.1552-6569.2008.00308.x
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- Publication type:
- Article
Selective White Matter Involvement in a Patient with Late Onset Krabbe Disease: MR, MR Spectroscopy, and Diffusion Tensor Study.
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- Journal of Neuroimaging, 2009, v. 19, n. 2, p. 191, doi. 10.1111/j.1552-6569.2008.00258.x
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- Publication type:
- Article
Leucodystrophies and Poliodystrophies (Book).
- Published in:
- 1971
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- Publication type:
- Book Review
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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- Article
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.
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- European Journal of Neurology, 2014, v. 21, n. 7, p. 983, doi. 10.1111/ene.12423
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- Publication type:
- Article
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.
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- European Journal of Neurology, 2008, v. 15, n. 1, p. 94, doi. 10.1111/j.1468-1331.2007.01999.x
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Where leukodystrophy and storage disorder meet: A rare cause of neurodegeneration.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Adult-Onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) in an Indian man.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Krabbe Disease with normal enzyme assay with a pathogenic variant in GALC gene—A report of two Indian cases.
- Published in:
- 2021
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- Publication type:
- Case Study
Genetically Proven Case of Megalencephalic Leukoencephaly with Subcortical Cysts (Mlc-1 Gene Mutation) In Indian Agarwal.
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- Annals of Indian Academy of Neurology, 2008, v. 11, p. S178
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- Publication type:
- Article
Infantile mitochondrial leucodystrophy -- a case report.
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- Folia Neuropathologica, 2005, v. 43, n. 3, p. 186
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- Publication type:
- Article
Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients.
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- Journal of Cellular Physiology, 2007, v. 212, n. 3, p. 737, doi. 10.1002/jcp.21070
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- Publication type:
- Article
MicroRNAs provide powerful postponement.
- Published in:
- 2011
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- Publication type:
- journal article
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 620, doi. 10.1111/jns.12602
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- Publication type:
- Article
Adult‐onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report.
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- Journal of the Peripheral Nervous System, 2022, v. 27, n. 4, p. 320, doi. 10.1111/jns.12511
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- Publication type:
- 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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- Publication type:
- Article
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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- Publication type:
- Article
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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- Publication type:
- Article