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4,865 results on '"leukodystrophy"'

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1. A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.

2. White Matter Lesion Volumes on 3‐T MRI in People With MS Who Had Followed a Diet and Lifestyle Program for More Than 10 Years.

3. The p.D417N variant of TUBB4A as a possible cause of hereditary spastic paraplegia: a case report.

4. Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating Leukodystrophy.

5. A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy.

6. Specialized gray matter segmentation via a generative adversarial network: application on brain white matter hyperintensities classification.

7. The prototypical interferonopathy: Aicardi‐Goutières syndrome from bedside to bench.

8. Association between Neuroimaging Scores and Clinical Status in Pediatric Patients Diagnosed with Metachromatic Leukodystrophy.

9. Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

10. A retrospective review of LMNB1-related autosomal dominant leukodystrophy.

11. Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.

12. Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study.

13. Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

14. Atlas‐based assessment of hypomyelination: Quantitative MRI in Pelizaeus‐Merzbacher disease.

15. Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

16. Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease.

17. Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families.

18. Nucleotide metabolism, leukodystrophies, and CNS pathology.

19. Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China.

20. Influencing factors of physician acceptance of AI-based clinical decision support systems (AI-CDSS) for diagnosis of rare diseases.

21. Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China

22. Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials

23. Differential Expression of PACAP/VIP Receptors in the Post-Mortem CNS White Matter of Multiple Sclerosis Donors.

24. Detection of diffusely abnormal white matter in multiple sclerosis on multiparametric brain MRI using semi-supervised deep learning.

25. Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.

26. Case report: Neuropsychological assessment in a patient with 4H leukodystrophy.

27. Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.

28. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

29. Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy.

30. A study on interoperability between two Personal Health Train infrastructures in leukodystrophy data analysis.

31. Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.

32. POLR3A‐related disorders: From spastic ataxia to generalised dystonia and long‐term efficacy of deep brain stimulation.

33. Magnetic resonance fingerprinting‐based myelin water fraction mapping for the assessment of white matter maturation and integrity in typical development and leukodystrophies.

34. Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.

35. A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4

39. Pediatric Neurology

40. Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies

41. Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies

42. Novel genetic variant associated with globoid cell leukodystrophy in a family of mixed breed dogs.

43. Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies.

44. Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene.

45. Proteomic dissection of vanishing white matter pathogenesis.

46. Macrophage transplantation rescues RNASET2-deficient leukodystrophy by replacing deficient microglia in a zebrafish model.

47. Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS.

48. Modified time repetition (TR) values' impact on the clarity of FLAIR sequence pictures in the white matter of multiple sclerosis MS patients.

49. Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies.

50. Pelizaeus–Merzbacher disease: on the cusp of myelin medicine.

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