Works matching Leukodystrophy and genetics
Results: 162
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
- Published in:
- Human Genetics, 2016, v. 135, n. 1, p. 89, doi. 10.1007/s00439-015-1617-7
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- Publication type:
- Article
Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
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- Journal of Child Neurology, 2020, v. 35, n. 7, p. 433, doi. 10.1177/0883073820904294
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- Article
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.
- Published in:
- 2015
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- Publication type:
- journal article
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82778-0
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- Publication type:
- Article
Clinical, genetic, and molecular characteristics in a central‐southern Chinese cohort of genetic leukodystrophies.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1556, doi. 10.1002/acn3.51845
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- Article
Clinical and Genetic Characteristics of Leukodystrophies in Africa.
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- Journal of Neurosciences in Rural Practice, 2017, v. 8, p. 89, doi. 10.4103/jnrp.jnrp_511_16
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- Article
Dramatic phenotypic improvementduring pregnancy in a genetic leukodystrophy: estrogen appears tobe a critical factor.
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- Human Molecular Genetics, 2001, v. 10, n. 23, p. 2709, doi. 10.1093/hmg/10.23.2709
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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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- Publication type:
- Article
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
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- Journal of Neurology, 2014, v. 261, n. 4, p. 752, doi. 10.1007/s00415-014-7263-5
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- Publication type:
- Article
儿童脑白质营养不良的临床遗传学研究进展.
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- Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 6, p. 711, doi. 10.7499/j.issn.1008-8830.2202020
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- Publication type:
- Article
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.
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- Acta Paediatrica, 2008, p. 15, doi. 10.1111/j.1651-2227.2008.00648.x
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- Publication type:
- Article
A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy.
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- Human Mutation, 2021, v. 42, n. 1, p. 102, doi. 10.1002/humu.24147
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- Publication type:
- Article
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis.
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- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00215
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- Publication type:
- Article
Pattern Recognition in Mitochondrial Leukodystrophies is Hampered by the Peculiarities of Mitochondrial Genetics.
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- American Journal of Neuroradiology, 2022, v. 43, n. 3, p. E12, doi. 10.3174/ajnr.A7371
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- Publication type:
- Article
Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study.
- Published in:
- 2016
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- Publication type:
- journal article
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 3, p. 934, doi. 10.1111/ene.14646
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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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- Publication type:
- Article
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications.
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- Human Mutation, 1997, v. 10, n. 4, p. 268, doi. 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D
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- Publication type:
- Article
Molecular genetics of metachromatic leukodystrophy.
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- Human Mutation, 1994, v. 4, n. 4, p. 233, doi. 10.1002/humu.1380040402
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- Publication type:
- Article
Metachromatic leukodystrophy: Molecular genetics and an animal model.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 564, doi. 10.1023/A:1005471106088
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- Publication type:
- Article
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
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- 2023
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- Publication type:
- Correction Notice
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
- Published in:
- Neurogenetics, 2023, v. 24, n. 4, p. 279, doi. 10.1007/s10048-023-00730-y
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- Publication type:
- Article
Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene.
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- JAMA Neurology, 2013, v. 70, n. 7, p. 875, doi. 10.1001/jamaneurol.2013.698
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- Article
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 11, doi. 10.1111/ahg.12345
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- Publication type:
- Article
Elevated In Vivo Levels of a Single Transcription Factor Directly Convert Satellite Glia into Oligodendrocyte-like Cells.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 2, p. 1, doi. 10.1371/journal.pgen.1005008
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- Publication type:
- Article
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 495, doi. 10.3390/ijms25010495
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- Article
Molecular Genetics of Metachromatic Leukodystrophy.
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- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 222, doi. 10.1159/000112164
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- Publication type:
- Article
Correction to: Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia.
- Published in:
- 2021
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- Publication type:
- Letter
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
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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
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.
- Published in:
- Therapeutics & Clinical Risk Management, 2017, v. 13, p. 725, doi. 10.2147/TCRM.S119967
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- Article
Novel genetic variant associated with globoid cell leukodystrophy in a family of mixed breed dogs.
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- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 5, p. 1710, doi. 10.1111/jvim.16822
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- Article
Genetic characterization of a Turkish dementia cohort: a focus on leukodystrophy genes.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 3, p. 1, doi. 10.1002/alz.067940
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- Article
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.
- Published in:
- 2015
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- Publication type:
- Case Study
Entmarkungserkrankungen.
- Published in:
- Der Nervenarzt, 2010, v. 81, n. 4, p. 471, doi. 10.1007/s00115-010-2948-1
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- Publication type:
- Article
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1148377
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- Publication type:
- Article
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
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- Journal of Child Neurology, 2018, v. 33, n. 10, p. 642, doi. 10.1177/0883073818776157
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- Article
The Relative incidence of Leukodystrophies in Tehran Province.
- Published in:
- Journal of Safety Promotion & Injury Prevention, 2019, v. 7, n. 3, p. 250
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- Article
P.079 4H leukodystrophy: a case series of siblings with an unusually mild phenotype.
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- Canadian Journal of Neurological Sciences, 2019, v. 46, p. S35, doi. 10.1017/cjn.2019.177
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- Article
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.
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- Journal of Neurology, 2013, v. 260, n. 8, p. 2124, doi. 10.1007/s00415-013-6958-3
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- Publication type:
- Article
Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
- Published in:
- 2022
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- Publication type:
- journal article
Globoid Cell Leukodystrophy (Krabbe's Disease): Update.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 9, p. 595, doi. 10.1177/08830738030180090201
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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
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor.
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- Journal of Enzyme Inhibition & Medicinal Chemistry, 2020, v. 35, n. 1, p. 1503, doi. 10.1080/14756366.2020.1791841
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- Publication type:
- Article
A case of X-Linked adrenoleukodystrophy caused by a novel mutation with singular clinical manifestation: unilateral lower limb weakness.
- Published in:
- Neurological Sciences, 2025, v. 46, n. 1, p. 473, doi. 10.1007/s10072-024-07828-7
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- Publication type:
- Article
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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- Article
Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families.
- Published in:
- 2022
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- Publication type:
- journal article
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-58452-6
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- Publication type:
- Article
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-58452-6
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- Publication type:
- Article