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Quoted phrase not found in phrase index: "Leukodystrophy, hypomyelinating, 20"
Page 1
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. ...CONCLUSIONS: NKX6-2 mutations should be considered in patients with autosomal …
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum o …
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Kulhánek J, Brožová K, Hansíková H, Vondráčková A, Stránecký V, Šenkyřík J, Kmoch S, Zeman J, Honzík T, Tesařová M. Kulhánek J, et al. Neurol Neurochir Pol. 2019;53(5):369-376. doi: 10.5603/PJNNS.a2019.0042. Epub 2019 Oct 2. Neurol Neurochir Pol. 2019. PMID: 31577365
INTRODUCTION AND AIM OF THE STUDY: White matter disorders represent a spectrum of neurological diseases frequently associated with an unfavourable prognosis and a delay in diagnostics. We report the broad phenotypic spectrum of a rare hypomyelinating leukodystrop …
INTRODUCTION AND AIM OF THE STUDY: White matter disorders represent a spectrum of neurological diseases frequently associated with an unfavo …
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E. Mierzewska H, et al. Folia Neuropathol. 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. Folia Neuropathol. 2016. PMID: 27179222 Free article.
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. ...DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination a …
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which code …
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G. Chapleau A, et al. Pediatr Neurol. 2023 Nov;148:133-137. doi: 10.1016/j.pediatrneurol.2023.08.013. Epub 2023 Aug 19. Pediatr Neurol. 2023. PMID: 37713976 Free article.
A developmental questionnaire was completed to obtain further clinical information. For functional characterization of the predicted splice site variant, RNA was extracted from patient blood samples and sequenced. ...CONCLUSIONS: We present a detailed study describing the …
A developmental questionnaire was completed to obtain further clinical information. For functional characterization of the predicted …
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M. Accogli A, et al. Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28. Neurogenetics. 2019. PMID: 30924036
Pathogenic variants in several aminoacyl-tRNA synthetases genes have been linked to various neurological disorders, including leukodystrophies and pontocerebellar hypoplasias (PCH). To date, loss-of-function variants in AIMP1 have been associated with hypomyelinating …
Pathogenic variants in several aminoacyl-tRNA synthetases genes have been linked to various neurological disorders, including leukodystro …
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.
Jurkiewicz E, Dunin-Wąsowicz D, Gieruszczak-Białek D, Malczyk K, Guerrero K, Gutierrez M, Tran L, Bernard G. Jurkiewicz E, et al. Clin Neuroradiol. 2017 Jun;27(2):213-220. doi: 10.1007/s00062-015-0472-1. Epub 2015 Oct 19. Clin Neuroradiol. 2017. PMID: 26478204 Free PMC article.
The diagnosis of 4H leukodystrophy (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) is based on clinical findings and magnetic resonance imaging (MRI). ...All clinical and radiological results are of course helpful, however genetic conformatio …
The diagnosis of 4H leukodystrophy (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) is based on clinical findi …
Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
Mierzewska H, van der Knaap MS, Scheper GC, Jurkiewicz E, Schmidt-Sidor B, Szymańska K. Mierzewska H, et al. Folia Neuropathol. 2006;44(2):144-8. Folia Neuropathol. 2006. PMID: 16823698 Free article.
Neuropathological findings comprise a severe, cavitating orthochromatic leukodystrophy with only small amounts of myelin breakdown products, and predominantly involving the cerebral hemispheric white matter. ...Neurological examination showed mild tremor of hands and head, …
Neuropathological findings comprise a severe, cavitating orthochromatic leukodystrophy with only small amounts of myelin breakdown pr …