Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1963
2025

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

Year Number of Results
1963 1
1969 2
1972 1
1973 1
1974 1
1975 1
1976 3
1977 5
1978 3
1979 4
1981 3
1982 1
1983 1
1984 3
1985 4
1987 1
1988 2
1989 2
1990 1
1991 3
1992 2
1993 2
1994 2
1995 8
1997 3
1998 4
1999 3
2000 1
2001 2
2002 4
2003 4
2004 4
2005 4
2006 4
2007 1
2008 6
2009 4
2010 6
2011 4
2012 4
2013 4
2014 5
2015 2
2016 22
2017 1
2018 2
2019 6
2020 2
2021 4
2022 5
2023 3
2024 6
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

168 results

Results by year

Filters applied: . Clear all
Page 1
Krabbe disease: New hope for an old disease.
Bradbury AM, Bongarzone ER, Sands MS. Bradbury AM, et al. Neurosci Lett. 2021 May 1;752:135841. doi: 10.1016/j.neulet.2021.135841. Epub 2021 Mar 22. Neurosci Lett. 2021. PMID: 33766733 Free PMC article. Review.
Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by progressive and profound demyelination. ...Unfortunately, Krabbe disease has been relatively refractory to most single-therapy interventions. Although hematopoi …
Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by progressive and prof …
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 …
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.
Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at the end of the first year of life with motor delay or regression and cerebellar signs, followed by progressive spasticity. ...We performed a l …
Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at th …
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.
Metovic J, Li Y, Gong Y, Eichler F. Metovic J, et al. Neurotherapeutics. 2024 Jul;21(4):e00443. doi: 10.1016/j.neurot.2024.e00443. Epub 2024 Sep 13. Neurotherapeutics. 2024. PMID: 39276676 Free PMC article. Review.
Of the approximately 50 leukodystrophies described to date, only eight have existing gene therapy clinical trials: metachromatic leukodystrophy, X-linked adrenoleukodystrophy, globoid cell leukodystrophy, Canavan disease, giant axonal neuropathy, GM2 g …
Of the approximately 50 leukodystrophies described to date, only eight have existing gene therapy clinical trials: metachromatic leukodys
Early recognition of patients with leukodystrophies.
Modesti NB, Evans SH, Jaffe N, Vanderver A, Gavazzi F. Modesti NB, et al. Curr Probl Pediatr Adolesc Health Care. 2022 Dec;52(12):101311. doi: 10.1016/j.cppeds.2022.101311. Epub 2022 Dec 2. Curr Probl Pediatr Adolesc Health Care. 2022. PMID: 36470810 Free PMC article. Review.
This review provides five hypothetical clinical presentations and describes the disease mechanisms, typical symptoms, and treatments currently available for common leukodystrophies: Krabbe Disease, Aicardi Goutieres Syndrome (AGS), Metachromatic leukodystrophy (MLD), Alexa …
This review provides five hypothetical clinical presentations and describes the disease mechanisms, typical symptoms, and treatments current …
Newborn Screening for Lysosomal Storage Disorders.
Anderson S. Anderson S. J Pediatr Health Care. 2018 May-Jun;32(3):285-294. doi: 10.1016/j.pedhc.2017.04.016. J Pediatr Health Care. 2018. PMID: 29678259 Review.
It offers information about each of the conditions including enzyme deficiency, mode of inheritance, incidence rates, types, clinical course, and available as well as potential treatment options....
It offers information about each of the conditions including enzyme deficiency, mode of inheritance, incidence rates, types, clinical …
Hematopoietic stem cell transplantation in leukodystrophies.
Sevin C, Mochel F. Sevin C, et al. Handb Clin Neurol. 2024;204:355-366. doi: 10.1016/B978-0-323-99209-1.00017-X. Handb Clin Neurol. 2024. PMID: 39322389 Review.
Neuroinflammation is a hallmark of some leukodystrophies, explaining in part the therapeutic benefit of hematopoietic stem cell transplantation (HSCT). Indeed, in addition to supplying the CNS with myelomonocyte donor cells expressing the deficient protein or enzyme, HSCT …
Neuroinflammation is a hallmark of some leukodystrophies, explaining in part the therapeutic benefit of hematopoietic stem cell trans …
Toxic encephalopathy.
Valk J, van der Knaap MS. Valk J, et al. AJNR Am J Neuroradiol. 1992 Mar-Apr;13(2):747-60. AJNR Am J Neuroradiol. 1992. PMID: 1348902 Free PMC article. Review. No abstract available.
Oncosuppressive and oncogenic activity of the sphingolipid-metabolizing enzyme beta-galactosylceramidase.
Belleri M, Chiodelli P, Corli M, Capra M, Presta M. Belleri M, et al. Biochim Biophys Acta Rev Cancer. 2022 Jan;1877(1):188675. doi: 10.1016/j.bbcan.2021.188675. Epub 2021 Dec 31. Biochim Biophys Acta Rev Cancer. 2022. PMID: 34974112 Review.
beta-galactosylceramidase (GALC) is a lysosomal enzyme that removes beta-galactose from beta-galactosylceramide, leading to the formation of the oncosuppressor metabolite ceramide. ...
beta-galactosylceramidase (GALC) is a lysosomal enzyme that removes beta-galactose from beta-galactosylceramide,
168 results