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

Year Number of Results
1970 1
1971 1
1972 1
1974 1
1975 1
1976 2
1977 3
1978 1
1979 2
1980 3
1981 9
1982 15
1983 15
1984 16
1985 13
1986 17
1987 17
1988 18
1989 16
1990 19
1991 20
1992 23
1993 35
1994 19
1995 24
1996 21
1997 31
1998 20
1999 47
2000 30
2001 26
2002 26
2003 24
2004 38
2005 40
2006 50
2007 50
2008 46
2009 46
2010 64
2011 57
2012 81
2013 90
2014 96
2015 95
2016 102
2017 109
2018 98
2019 113
2020 119
2021 148
2022 120
2023 108
2024 52

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Page 1
Hypomyelination and Congenital Cataract.
Wolf NI, Biancheri R, Zara F, Bruno C, Gazzerro E, Rossi A, van der Knaap MS, Minetti C. Wolf NI, et al. 2008 Oct 14 [updated 2021 Jan 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Oct 14 [updated 2021 Jan 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301737 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment mani …
CLINICAL CHARACTERISTICS: Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts an …
Solving the hypomyelination conundrum - Imaging perspectives.
Malik P, Muthusamy K, Mankad K, Shroff M, Sudhakar S. Malik P, et al. Eur J Paediatr Neurol. 2020 Jul;27:9-24. doi: 10.1016/j.ejpn.2020.04.007. Epub 2020 Apr 22. Eur J Paediatr Neurol. 2020. PMID: 32418752 Review.
Hypomyelinating Leukodystrophies (HLDs) are a genetically heterogeneous, clinically overlapping group of disorders with the unifying MR imaging appearance of myelin deficit in the brain. ...This article reviews the neurobiology of myelination, focussing on the complex inte …
Hypomyelinating Leukodystrophies (HLDs) are a genetically heterogeneous, clinically overlapping group of disorders with the unifying …
Hyperoxia Induced Hypomyelination.
Song W, Hoppe G, Hanna D, DeSilva TM, Sears JE. Song W, et al. Biomedicines. 2022 Dec 23;11(1):37. doi: 10.3390/biomedicines11010037. Biomedicines. 2022. PMID: 36672545 Free PMC article.
We asked whether hyperoxia might induce hypomyelination of the corpus callosum, clinically described as periventricular leukomalacia (PVL) of the severely preterm infant. ...Cerebral hypoxiamimesis induced hypomyelination whereas hepatic hypoxiamimesis alone increas …
We asked whether hyperoxia might induce hypomyelination of the corpus callosum, clinically described as periventricular leukomalacia …
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Potic A, et al. Orphanet J Rare Dis. 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6. Orphanet J Rare Dis. 2023. PMID: 37443037 Free PMC article. Review.
Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomyelinating leukodystrophy on magnetic resonance imaging. If left untreated, progressive neurodegeneration occurs. ...RESULTS: Two siblings presented in childhood wit …
Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomyelinating leukodystrophy …
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Kraoua I, Bouyacoub Y, Drissi C, Chargui M, Rebai I, Chebil A, Klaa H, Benrhouma H, Hassen A, Gouider-Khouja N, Abdelhak S, Boespflug-Tanguy O, Youssef-Turki IB, Dorboz I. Kraoua I, et al. Neuropediatrics. 2021 Aug;52(4):302-309. doi: 10.1055/s-0041-1728654. Epub 2021 Jun 30. Neuropediatrics. 2021. PMID: 34192786 Review.
Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. ...
Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse …
Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations.
Zhu J, Guo X, Ran N, Liang J, Liu F, Liu J, Wang R, Jiang L, Yang D, Liu M. Zhu J, et al. Front Genet. 2023 Jan 12;13:1009230. doi: 10.3389/fgene.2022.1009230. eCollection 2022. Front Genet. 2023. PMID: 36712860 Free PMC article. Review.
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), caused by aspartyl-tRNA synthetase (DARS1) gene mutations, is extremely rare, with only a few cases reported worldwide; thus, reports on HBSL treatment are few. ...
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), caused by aspartyl-tRNA synthetase (DARS1) gene …
Neurochemistry of Hypomyelination Investigated with MR Spectroscopy.
Takanashi J. Takanashi J. Magn Reson Med Sci. 2015;14(2):85-91. doi: 10.2463/mrms.2014-0064. Magn Reson Med Sci. 2015. PMID: 26185828 Free article. Review.
MRS in the thalamus of a hypomyelinating mouse model, a myelin synthesis-deficient (msd) mouse, a model of connatal PMD with mutation of the Plp1 gene, revealed increased tNAA and Cr and decreased Cho. ...Accordingly, the reduction of Cho on MRS might be a common marker fo …
MRS in the thalamus of a hypomyelinating mouse model, a myelin synthesis-deficient (msd) mouse, a model of connatal PMD with mutation …
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
Michell-Robinson MA, Watt KEN, Grouza V, Macintosh J, Pinard M, Tuznik M, Chen X, Darbelli L, Wu CL, Perrier S, Chitsaz D, Uccelli NA, Liu H, Cox TC, Müller CW, Kennedy TE, Coulombe B, Rudko DA, Trainor PA, Bernard G. Michell-Robinson MA, et al. Brain. 2023 Dec 1;146(12):5070-5085. doi: 10.1093/brain/awad249. Brain. 2023. PMID: 37635302 Free PMC article.
RNA polymerase III (Pol III)-related hypomyelinating leukodystrophy (POLR3-HLD), also known as 4H leukodystrophy, is a severe neurodegenerative disease characterized by the cardinal features of hypomyelination, hypodontia and hypogonadotropic hypogonadism. ...Lineag …
RNA polymerase III (Pol III)-related hypomyelinating leukodystrophy (POLR3-HLD), also known as 4H leukodystrophy, is a severe neurode …
Beta-Mannosidosis Is a Cause of Hypomyelination.
Renaud DL. Renaud DL. Pediatr Neurol. 2023 Mar;140:76-77. doi: 10.1016/j.pediatrneurol.2022.12.012. Epub 2022 Dec 26. Pediatr Neurol. 2023. PMID: 36706484 No abstract available.
Extrapyramidal Movement with Hypomyelination.
Yazdani M, Koch TK. Yazdani M, et al. Eur Neurol. 2020;83(2):232-234. doi: 10.1159/000507546. Epub 2020 May 20. Eur Neurol. 2020. PMID: 32434185 No abstract available.
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Searches related to "hypomyelination"