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1955 3
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1957 4
1958 6
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1961 9
1962 19
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1965 26
1966 26
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1971 54
1972 33
1973 56
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1975 68
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1979 44
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1982 51
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1986 35
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1988 55
1989 40
1990 57
1991 65
1992 53
1993 82
1994 62
1995 62
1996 65
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1998 68
1999 51
2000 66
2001 70
2002 73
2003 75
2004 73
2005 89
2006 93
2007 96
2008 104
2009 100
2010 109
2011 130
2012 134
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2014 183
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Page 1
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.
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. ...The leukodystr …
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leuk …
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. They may result from abnormalities of the oligodendrocyte or any of the other of myriad of supporting cells or tissues. ...
Leukodystrophies are serious, progressive, genetic disorders of CNS myelin. They may result from abnormalities of the oligodendrocyte …
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.
Mitochondrial leukodystrophies constitute a group of different conditions presenting with a wide range of clinical presentation but with some shared neuroradiological features. Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leu …
Mitochondrial leukodystrophies constitute a group of different conditions presenting with a wide range of clinical presentation but w …
Metachromatic Leukodystrophy.
Lamichhane A, Rocha Cabrero F. Lamichhane A, et al. 2023 Jul 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 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 …
AARS2-Related Leukodystrophy: a Case Report and Literature Review.
Zhang X, Li J, Zhang Y, Gao M, Peng T, Tian T. Zhang X, et al. Cerebellum. 2023 Feb;22(1):59-69. doi: 10.1007/s12311-022-01369-5. Epub 2022 Jan 27. Cerebellum. 2023. PMID: 35084689 Review.
Mutations in the alanyl-transfer RNA synthase 2 (AARS2) represent a heterogenous group of autosomal recessive leukodystrophy characterized by cognitive decline, ataxia, spasticity, and Parkinsonism. AARS2-related leukodystrophy (AARS2-L) is extremely rare. ...We als …
Mutations in the alanyl-transfer RNA synthase 2 (AARS2) represent a heterogenous group of autosomal recessive leukodystrophy characte …
DEGS1 -related leukodystrophy: a clinical report and review of literature.
Wong MST, Thomas T, Lim JY, Kam S, Teo JX, Ching J, Goh CYJ, Jamuar SS, Lim WK, Koh AL. Wong MST, et al. Clin Dysmorphol. 2023 Jul 1;32(3):106-111. doi: 10.1097/MCD.0000000000000457. Epub 2023 May 1. Clin Dysmorphol. 2023. PMID: 37195341 Review.
BACKGROUND: Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or without affecting the peripheral nervous system. Biallelic variants in DEGS1 , coding for desaturase 1 (Des1) protein, were recently report …
BACKGROUND: Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or …
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: 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. …
Amino-acyl tRNA synthetases associated with leukodystrophy.
Engelen M, van der Knaap MS, Wolf NI. Engelen M, et al. Handb Clin Neurol. 2024;204:253-261. doi: 10.1016/B978-0-323-99209-1.00020-X. Handb Clin Neurol. 2024. PMID: 39322382 Review.
Amino-acyl tRNA synthetases (ARSs) are enzymes that catalyze the amino-acylation reaction of a specific amino acid and its cognate tRNA and are divided into type 1 (cytosolic) and type 2 (mitochondrial). In this chapter leukodystrophies caused by tRNA synthetase deficienci …
Amino-acyl tRNA synthetases (ARSs) are enzymes that catalyze the amino-acylation reaction of a specific amino acid and its cognate tRNA and …
Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. Vanderver A, et al. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24501781 Free Books & Documents. Review.
Review of brain MRI findings: T(2)-weighted hyperintensity in the white matter is the MRI finding required for diagnosis of a leukodystrophy. T(1)-weighted signal may be variable: iso- or hyperintense T(1)-weighted signal is consistent with a hypomyelinating leukodystro …
Review of brain MRI findings: T(2)-weighted hyperintensity in the white matter is the MRI finding required for diagnosis of a leukodystro …
5,562 results

Searches related to "leukodystrophy"