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

Year Number of Results
1947 1
1949 1
1950 2
1951 1
1952 1
1953 2
1954 3
1955 3
1956 1
1957 4
1958 6
1959 8
1960 11
1961 9
1962 19
1963 18
1964 22
1965 26
1966 26
1967 34
1968 31
1969 32
1970 41
1971 54
1972 33
1973 56
1974 55
1975 68
1976 59
1977 64
1978 66
1979 44
1980 54
1981 57
1982 51
1983 62
1984 68
1985 51
1986 35
1987 57
1988 55
1989 40
1990 57
1991 65
1992 53
1993 80
1994 62
1995 62
1996 65
1997 63
1998 68
1999 50
2000 66
2001 70
2002 73
2003 74
2004 73
2005 89
2006 93
2007 96
2008 104
2009 100
2010 109
2011 130
2012 134
2013 201
2014 183
2015 187
2016 213
2017 192
2018 219
2019 249
2020 270
2021 306
2022 207
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4,954 results
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Page 1
Metachromatic Leukodystrophy.
Lamichhane A, Rocha Cabrero F. Lamichhane A, et al. 2022 Jul 18. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. 2022 Jul 18. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. PMID: 32809579 Free Books & Documents.
These may include glial cells, myelin sheath, and axons. Genetic leukodystrophies tend to combine features of leukodystrophies with development issues caused by inborn errors of metabolism, disorders of DNA transcription, translation, production of critical CNS prot …
These may include glial cells, myelin sheath, and axons. Genetic leukodystrophies tend to combine features of leukodystrophies
Leukodystrophy: Basic and Clinical.
Raymond GV. Raymond GV. Adv Neurobiol. 2017;15:365-382. doi: 10.1007/978-3-319-57193-5_14. Adv Neurobiol. 2017. PMID: 28674989 Review.
Leukodystrophies are serious, progressive, genetic disorders of CNS myelin. ...
Leukodystrophies are serious, progressive, genetic disorders of CNS myelin. ...
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
Coulombe B, Derksen A, La Piana R, Brais B, Gauthier MS, Bernard G. Coulombe B, et al. Fac Rev. 2021 Feb 5;10:12. doi: 10.12703/r/10-12. eCollection 2021. Fac Rev. 2021. PMID: 33659930 Free PMC article. Review.
Hypomyelinating leukodystrophies are a group of genetic disorders characterized by insufficient myelin deposition during development. A subset of hypomyelinating leukodystrophies, named RNA polymerase III (Pol III or POLR3)-related leukodystrophy or 4H (Hypom …
Hypomyelinating leukodystrophies are a group of genetic disorders characterized by insufficient myelin deposition during development. …
Animal models of leukodystrophy: a new perspective for the development of therapies.
Rutherford HA, Hamilton N. Rutherford HA, et al. FEBS J. 2019 Nov;286(21):4176-4191. doi: 10.1111/febs.15060. Epub 2019 Oct 9. FEBS J. 2019. PMID: 31520449 Free article. Review.
The leukodystrophies are a family of heritable disorders characterised by white matter degeneration, accompanied by variable clinical symptoms including loss of motor function and cognitive decline. ...We propose future directions for the field and suggest a more critical …
The leukodystrophies are a family of heritable disorders characterised by white matter degeneration, accompanied by variable clinical …
POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.
Perrier S, Michell-Robinson MA, Bernard G. Perrier S, et al. Front Cell Neurosci. 2021 Jan 28;14:631802. doi: 10.3389/fncel.2020.631802. eCollection 2020. Front Cell Neurosci. 2021. PMID: 33633543 Free PMC article.
POLR3-related or 4H (hypomyelination, hypodontia, and hypogonadotropic hypogonadism) leukodystrophy is one of the most common types of hypomyelinating leukodystrophy for which no curative treatment or disease-modifying therapy is available. This review aims to descr …
POLR3-related or 4H (hypomyelination, hypodontia, and hypogonadotropic hypogonadism) leukodystrophy is one of the most common types o …
Case report: 'AARS2 leukodystrophy'.
Axelsen TM, Vammen TL, Bak M, Pourhadi N, Stenør CM, Grønborg S. Axelsen TM, et al. Mol Genet Metab Rep. 2021 Jul 13;28:100782. doi: 10.1016/j.ymgmr.2021.100782. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34285876 Free PMC article.
BACKGROUND: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare w …
BACKGROUND: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolis …
Glial cells in the driver seat of leukodystrophy pathogenesis.
Garcia LM, Hacker JL, Sase S, Adang L, Almad A. Garcia LM, et al. Neurobiol Dis. 2020 Dec;146:105087. doi: 10.1016/j.nbd.2020.105087. Epub 2020 Sep 23. Neurobiol Dis. 2020. PMID: 32977022 Free article. Review.
In this review, we take a closer look at multiple leukodystrophies, classified based on the primary glial cell type that is affected. ...Glial cells are gaining momentum as cellular therapeutic targets for treatment of demyelinating diseases such as leukodystrophies
In this review, we take a closer look at multiple leukodystrophies, classified based on the primary glial cell type that is affected. …
The multicellular interplay of microglia in health and disease: lessons from leukodystrophy.
Berdowski WM, Sanderson LE, van Ham TJ. Berdowski WM, et al. Dis Model Mech. 2021 Aug 1;14(8):dmm048925. doi: 10.1242/dmm.048925. Epub 2021 Jul 20. Dis Model Mech. 2021. PMID: 34282843 Free PMC article. Review.
Microglia are highly dynamic cells crucial for developing and maintaining lifelong brain function and health through their many interactions with essentially all cellular components of the central nervous system. The frequent connection of microglia to leukodystrophies, ge …
Microglia are highly dynamic cells crucial for developing and maintaining lifelong brain function and health through their many interactions …
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.
BACKGROUND: Leukodystrophies are genetic diseases affecting the white matter and leading to early death. ...Overall, we found a leukodystrophy incidence of 1 in 4733 live births, significantly higher than previous estimates. ...
BACKGROUND: Leukodystrophies are genetic diseases affecting the white matter and leading to early death. ...Overall, we found a le
Gene therapy for metachromatic leukodystrophy.
Rosenberg JB, Kaminsky SM, Aubourg P, Crystal RG, Sondhi D. Rosenberg JB, et al. J Neurosci Res. 2016 Nov;94(11):1169-79. doi: 10.1002/jnr.23792. J Neurosci Res. 2016. PMID: 27638601 Free PMC article. Review.
Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic symptoms. There are currently no disease-specific therapeutic approaches for these diseases. In this review we use metachromatic leukodystrophy as an example to outline in the brief
Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic symptoms. There are currently no disease-specifi
4,954 results