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Quoted phrase not found in phrase index: "Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"
Page 1
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
Yan H, Ji H, Kubisiak T, Wu Y, Xiao J, Gu Q, Yang Y, Xie H, Ji T, Gao K, Li D, Xiong H, Shi Z, Li M, Zhang Y, Duan R, Bao X, Jiang Y, Burmeister M, Wang J. Yan H, et al. J Hum Genet. 2021 Aug;66(8):761-768. doi: 10.1038/s10038-020-00896-5. Epub 2021 Feb 18. J Hum Genet. 2021. PMID: 33597727 Free PMC article.
Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. ...Trio-based WES was performed for 20 unresolved HLDs families after genetic tests for the PLP1 duplication and a panel of 115 known …
Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MR …
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
Arai-Ichinoi N, Uematsu M, Sato R, Suzuki T, Kudo H, Kikuchi A, Hino-Fukuyo N, Matsumoto M, Igarashi K, Haginoya K, Kure S. Arai-Ichinoi N, et al. Hum Genet. 2016 Jan;135(1):89-98. doi: 10.1007/s00439-015-1617-7. Epub 2015 Nov 23. Hum Genet. 2016. PMID: 26597493
Persistent T2 high intensity in combination with T1 iso- or high intensity of white matter in infants indicates a lack of normal myelination, that is, hypomyelination. However, the precise diagnosis of hypomyelinating leukodystrophy based solely on MRI findin …
Persistent T2 high intensity in combination with T1 iso- or high intensity of white matter in infants indicates a lack of normal myelination …
Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.
Sager G, Türkyilmaz A, Günbey HP, Taş İ, Ozhelvaci F, Akin Y. Sager G, et al. Eur J Paediatr Neurol. 2023 May;44:51-56. doi: 10.1016/j.ejpn.2023.04.002. Epub 2023 Apr 28. Eur J Paediatr Neurol. 2023. PMID: 37141741
OBJECTIVES: PYCR2 gene variants are extremely rare condition which is associated with hypomyelinating leukodystrophy type 10 with microcephaly (HLD10). The aim of the present study is to report the clinical findings of patients having novel PYCR2 gene variant that m …
OBJECTIVES: PYCR2 gene variants are extremely rare condition which is associated with hypomyelinating leukodystrophy type 10 w …
Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.
Xing S, Zheng X, Yan H, Mo Y, Duan R, Chen Z, Wang K, Gao K, Chen T, Zhao S, Wang J, Chen L. Xing S, et al. Sci China Life Sci. 2023 Aug;66(8):1858-1868. doi: 10.1007/s11427-022-2290-1. Epub 2023 Apr 18. Sci China Life Sci. 2023. PMID: 37129766
Hypomyelination leukodystrophies constitute a group of heritable white matter disorders exhibiting defective myelin development. Initially identified as a lysosomal protein, the TMEM106B D252N mutant has recently been associated with hypomyelination. However, …
Hypomyelination leukodystrophies constitute a group of heritable white matter disorders exhibiting defective myelin developmen …
Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy.
Yan H, Yang S, Hou Y, Ali S, Escobar A, Gao K, Duan R, Kubisiak T, Wang J, Zhang Y, Xiao J, Jiang Y, Zhang T, Wu Y, Burmeister M, Wang Q, Cuajungco MP, Wang J. Yan H, et al. Cells. 2022 Apr 9;11(8):1285. doi: 10.3390/cells11081285. Cells. 2022. PMID: 35455965 Free PMC article.
Hypomyelinating leukodystrophies (HLDs) are a rare group of heterogeneously genetic disorders characterized by persistent deficit of myelin observed on magnetic resonance imaging (MRI). ...Our findings suggest an unappreciated role for TMEM163 protein in myelin deve …
Hypomyelinating leukodystrophies (HLDs) are a rare group of heterogeneously genetic disorders characterized by persistent defi …
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi-allelic mutations in NKX6-2 were recently linked to spastic ataxia 8 w …
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum o …
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H, Li D, Wu Y, Zhang Q, Gu Q, Xie H, Ji T, Wang H, Zhao L, Zhao H, Yang Y, Feng H, Xiong H, Ji J, Yang Z, Kou L, Li M, Bao X, Chang X, Zhang Y, Li L, Li H, Niu Z, Wu X, Xiao J, Jiang Y, Wang J. Ji H, et al. PLoS One. 2018 Feb 16;13(2):e0188869. doi: 10.1371/journal.pone.0188869. eCollection 2018. PLoS One. 2018. PMID: 29451896 Free PMC article.
OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. ...RESULTS: Clinical and genetic features of hypomyelinating dis …
OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological d …
RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.
Biglari S, Vahidnezhad H, Tabatabaiefar MA, Khorram Khorshid HR, Esmaeilzadeh E. Biglari S, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2435. doi: 10.1002/mgg3.2435. Mol Genet Genomic Med. 2024. PMID: 38618971 Free PMC article. Review.
BACKGROUND: Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS). ...The mean age of onset for HLD9 in the group of 33 patients with a known age of onset wa …
BACKGROUND: Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the …
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Ashrafi M, Kameli R, Hosseinpour S, Razmara E, Zamani Z, Rezaei Z, Mashayekhi R, Pak N, Barzegar M, Azizimalamiri R, Kashani MR, Khosroshahi N, Rasulinezhad M, Heidari M, Amanat M, Abdi A, Mohammadi B, Mohammadi M, Zamani GR, Badv RS, Omrani A, Nikbakht S, Bereshneh AH, Movahedinia M, Moghaddam HF, Ardakani HS, Akbari MG, Tousi MB, Shahi MV, Hosseini F, Amouzadeh MH, Hosseini SA, Nikkhah A, Khajeh A, Alizadeh H, Yarali B, Rohani M, Karimi P, Elahi HML, Hosseiny SMM, Sadeghzadeh MS, Mohebbi H, Moghadam MH, Aryan H, Vahidnezhad H, Soveizi M, Rabbani B, Rabbani A, Mahdieh N, Garshasbi M, Tavasoli AR. Ashrafi M, et al. Neurogenetics. 2023 Oct;24(4):279-289. doi: 10.1007/s10048-023-00730-y. Epub 2023 Aug 19. Neurogenetics. 2023. PMID: 37597066
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of the central nervous system (CNS). ...The total diagnostic rate of WES was 60.7%. Lysosomal disorders (27.3%; GM2-gangliosidosi …
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of wh …
Myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies are highly specific in children with acquired demyelinating syndromes.
Duignan S, Wright S, Rossor T, Cazabon J, Gilmour K, Ciccarelli O, Wassmer E, Lim M, Hemingway C, Hacohen Y. Duignan S, et al. Dev Med Child Neurol. 2018 Sep;60(9):958-962. doi: 10.1111/dmcn.13703. Epub 2018 Feb 22. Dev Med Child Neurol. 2018. PMID: 29468668 Free article.
Of the 33 children with neuromyelitis optic spectrum disorder, 14 were AQP4-Ab positive, 13 were MOG-Ab positive, and 6 were seronegative. Of the children with longitudinal samples, 8 out of 13 AQP4-Ab remained positive during the disease course compared to 35 out of 43 MO …
Of the 33 children with neuromyelitis optic spectrum disorder, 14 were AQP4-Ab positive, 13 were MOG-Ab positive, and 6 were seronegative. O …
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