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67 results

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Page 1
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
Ultimately, this Review aims to provide helpful suggestions to identify treatable adulthood leukodystrophies at an early stage in the disease course....
Ultimately, this Review aims to provide helpful suggestions to identify treatable adulthood leukodystrophies at an early stage in the diseas …
Leukodystrophies.
Perlman SJ, Mar S. Perlman SJ, et al. Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Adv Exp Med Biol. 2012. PMID: 22411242 Review.
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail …
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, tre …
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
RESULTS: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. The disease course was milder in patients with POLR3B than in patients with POLR3A mutations. ...Mutations in POLR3A are associated wi …
RESULTS: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. T …
Neuropathology and genetics of cerebroretinal vasculopathies.
Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV. Kolar GR, et al. Brain Pathol. 2014 Sep;24(5):510-8. doi: 10.1111/bpa.12178. Brain Pathol. 2014. PMID: 25323666 Free PMC article. Review.
Frameshift mutations in the carboxyl-terminus of three prime exonuclease-1 (TREX1), the major mammalian 3' to 5' DNA exonuclease on chromosome 3p21.1-p21.3, result in a systemic vasculopathy that follows an approximately 5-year course leading to death secondary to progress …
Frameshift mutations in the carboxyl-terminus of three prime exonuclease-1 (TREX1), the major mammalian 3' to 5' DNA exonuclease on chromoso …
Transplant outcomes in leukodystrophies.
Orchard PJ, Tolar J. Orchard PJ, et al. Semin Hematol. 2010 Jan;47(1):70-8. doi: 10.1053/j.seminhematol.2009.10.006. Semin Hematol. 2010. PMID: 20109614 Review.
Adrenoleukodystrophy is an X-linked, peroxisomal disorder, and in approximately 40% of cases a progressive, inflammatory condition develops in the CNS. Early in the course of the disease, allogeneic transplantation can arrest the disease process in cerebral adrenoleukodyst …
Adrenoleukodystrophy is an X-linked, peroxisomal disorder, and in approximately 40% of cases a progressive, inflammatory condition develops …
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V, Said G. Plante-Bordeneuve V, et al. Muscle Nerve. 2002 Nov;26(5):608-21. doi: 10.1002/mus.10197. Muscle Nerve. 2002. PMID: 12402282 Review.
The nerve biopsy can be useful in patients in whom genealogical or DNA abnormalities in favor of a genetic disorder are missing, because in a few patients with a progressive or relapsing course the diagnosis of early-onset chronic inflammatory demyelinating polyneuropathy …
The nerve biopsy can be useful in patients in whom genealogical or DNA abnormalities in favor of a genetic disorder are missing, because in …
Neuroimaging in leukodystrophies.
Barker PB, Horská A. Barker PB, et al. J Child Neurol. 2004 Aug;19(8):559-70. doi: 10.1177/088307380401900801. J Child Neurol. 2004. PMID: 15605464 Review.
Proton magnetic resonance spectroscopy, which can detect several brain metabolites, including those related to axonal function and myelination, can provide additional diagnostic and prognostic information and, in some cases, allows a rare insight into the biochemical patho …
Proton magnetic resonance spectroscopy, which can detect several brain metabolites, including those related to axonal function and myelinati …
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A, Goldberg Y, Lev D, Basel-Salmon L, Shor O, Benninger F. Fellner A, et al. Sci Rep. 2022 Jan 7;12(1):58. doi: 10.1038/s41598-021-04337-x. Sci Rep. 2022. PMID: 34997144 Free PMC article.
It displays a wide phenotypic spectrum, ranging from isolated late-onset torsion dystonia to a severe early-onset disease with developmental delay, neurological deficits, and atrophy of the basal ganglia and cerebellum, therefore complicating variant interpretation and phenotype …
It displays a wide phenotypic spectrum, ranging from isolated late-onset torsion dystonia to a severe early-onset disease with developmental …
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
Khalaf-Nazzal R, Dweikat I, Maree M, Alawneh M, Barahmeh M, Doulani RT, Qrareya M, Qadi M, Dudin A. Khalaf-Nazzal R, et al. Brain Dev. 2022 Aug;44(7):454-461. doi: 10.1016/j.braindev.2022.03.009. Epub 2022 Apr 16. Brain Dev. 2022. PMID: 35440380
BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white m …
BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodyst …
Elevated Leukodystrophy Incidence Predicted From Genomics Databases.
Soderholm HE, Chapin AB, Bayrak-Toydemir P, Bonkowsky JL. Soderholm HE, et al. Pediatr Neurol. 2020 Oct;111:66-69. doi: 10.1016/j.pediatrneurol.2020.06.005. Epub 2020 Jun 17. Pediatr Neurol. 2020. PMID: 32951664 Free PMC article.
The largest effect was from GALC variants (Krabbe disease), which had a predicted incidence of one in 12,080 live births, 8.3 times higher than published estimates. The second most frequently predicted leukodystrophy was the RNA polymerase III-related disorders, whi …
The largest effect was from GALC variants (Krabbe disease), which had a predicted incidence of one in 12,080 live births, 8.3 times h …
67 results