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1964
2025

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 1
1965 1
1966 1
1967 1
1969 1
1972 2
1973 5
1974 2
1975 4
1976 4
1977 8
1978 6
1979 4
1980 2
1981 3
1982 3
1983 4
1984 4
1985 4
1986 1
1987 2
1988 2
1989 1
1990 2
1991 3
1992 1
1993 6
1994 4
1995 9
1996 4
1997 2
1998 10
1999 3
2000 4
2001 5
2002 5
2003 8
2004 3
2005 5
2006 3
2007 7
2008 6
2009 5
2010 10
2011 6
2012 4
2013 10
2014 4
2015 7
2016 8
2017 6
2018 4
2019 11
2020 11
2021 5
2022 1
2023 5
2024 12
2025 1

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249 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 Free PMC article. Review.
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, hereditary diffuse leukoencephalopathy with axonal spheroids, autos …
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, …
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Nat Rev Dis Primers. 2018. PMID: 30275469 Review.
Gene Therapy of Sphingolipid Metabolic Disorders.
Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA. Shaimardanova AA, et al. Int J Mol Sci. 2023 Feb 11;24(4):3627. doi: 10.3390/ijms24043627. Int J Mol Sci. 2023. PMID: 36835039 Free PMC article. Review.
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff disease, the AB variant of GM2-gangliosidosis, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, N …
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff …
Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B. Thakkar RN, et al. Med Sci (Basel). 2024 Jan 25;12(1):7. doi: 10.3390/medsci12010007. Med Sci (Basel). 2024. PMID: 38390857 Free PMC article. Review.
In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleu …
In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in diff …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Cytotherapy. 2024 Jul;26(7):739-748. doi: 10.1016/j.jcyt.2024.03.487. Epub 2024 Apr 1. Cytotherapy. 2024. PMID: 38613540 Review.
Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. ...
Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations
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.
The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrophies: X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Alexander dis …
The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrop …
Neurometabolic disease.
Moser HW. Moser HW. Curr Opin Neurol. 1998 Apr;11(2):91-5. doi: 10.1097/00019052-199804000-00002. Curr Opin Neurol. 1998. PMID: 9551286 Review.
Animal models have been developed for X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Zellweger syndrome and will aid in the understanding of pathogenesis and the evaluation of therapy....
Animal models have been developed for X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Zellweger syndrome and w …
Measuring brain lipids.
Dawson G. Dawson G. Biochim Biophys Acta. 2015 Aug;1851(8):1026-39. doi: 10.1016/j.bbalip.2015.02.007. Epub 2015 Feb 18. Biochim Biophys Acta. 2015. PMID: 25701718 Free PMC article. Review.
249 results