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Quoted phrase not found in phrase index: "Pontocerebellar hypoplasia, type 14"
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Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Laugwitz L, Buchert R, Groeschel S, Riess A, Grimmel M, Beck-Wödl S, Sturm M, Gohla G, Döbler-Neumann M, Krägeloh-Mann I, Haack TB. Laugwitz L, et al. Eur J Med Genet. 2020 Jul;63(7):103938. doi: 10.1016/j.ejmg.2020.103938. Epub 2020 Apr 28. Eur J Med Genet. 2020. PMID: 32360255
Pontocerebellar hypoplasia (PCH) comprises a clinically and genetically heterogeneous group of disorders characterized by hypoplasia and degeneration of the cerebellum and ventral pons. ...Brain volume was evaluated over a disease course of 14 years using vol …
Pontocerebellar hypoplasia (PCH) comprises a clinically and genetically heterogeneous group of disorders characterized by hypo …
Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7.
Guo H, Deng Z, Xu Q, Wang Z, Zeng X, Hong X, Wang Q, Sun Y, Yuan H. Guo H, et al. J Matern Fetal Neonatal Med. 2023 Dec;36(2):2250895. doi: 10.1080/14767058.2023.2250895. J Matern Fetal Neonatal Med. 2023. PMID: 37635087 Free article.
Objective: Biallelic pathogenic variants in TOE1 cause pontocerebellar hypoplasia type 7 (PCH7), a rare neurological condition characterized by psychomotor retardation, spastic paraplegia, seizures, gonadal abnormalities and brain anomalies. ...Interestingly, …
Objective: Biallelic pathogenic variants in TOE1 cause pontocerebellar hypoplasia type 7 (PCH7), a rare neurological co …
Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7.
Wang C, Ge Y, Li R, He G, Lin Y. Wang C, et al. Gene. 2023 Apr 30;862:147250. doi: 10.1016/j.gene.2023.147250. Epub 2023 Feb 2. Gene. 2023. PMID: 36738896
BACKGROUND: Pontocerebellar hypoplasia type 7(PCH7)is a neurodegenerative disease related to autosomal recessive variants in the target of EGR1 (TOE1)gene. ...This study examined the clinical and genetic features of a 2-year-old patient carrying novel compoun …
BACKGROUND: Pontocerebellar hypoplasia type 7(PCH7)is a neurodegenerative disease related to autosomal recessive varian …
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
BACKGROUND: Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. ...Clinical and neuroradiological features were collected. RESULTS: We observed …
BACKGROUND: Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or …
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW. Lax NZ, et al. J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209. J Neuropathol Exp Neurol. 2015. PMID: 26083569 Free PMC article.
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6). We describe 2 sisters with novel compound heterozygous RARS2 mutations …
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephal …