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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 …
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. ...Trio-WES revealed novel compound heterozygous missense variants in TOE1gene (c.911C > T p.S304L, …
BACKGROUND: Pontocerebellar hypoplasia type 7(PCH7)is a neurodegenerative disease related to autosomal recessive varian …
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Jaillard A, Valence S, Vande Perre S, Dhombres F, Héron D, Billette de Villemeur T, Keren B, Afenjar A, Qebibo L, Harion M, Quenum-Miraillet G, Rodriguez D, Jouannic JM, Burglen L, Garel C. Jaillard A, et al. Prenat Diagn. 2024 Jan;44(1):35-48. doi: 10.1002/pd.6495. Epub 2024 Jan 2. Prenat Diagn. 2024. PMID: 38165124
OBJECTIVE: To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH). METHOD: This was a retrospective single monocentre study. ...PCH was classified as classic, non-classic, chromosomal, or unknown type. RESULTS: Forty-two f …
OBJECTIVE: To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH). METHOD: This was a ret …
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.
Salman MS, Blaser S, Buncic JR, Westall CA, Héon E, Becker L. Salman MS, et al. J Child Neurol. 2003 Mar;18(3):220-5. doi: 10.1177/08830738030180031201. J Child Neurol. 2003. PMID: 12731647
Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anterior horn cell degeneration. ...Our cases provide clinical and previously unreported electroretinographic evidence for neurodegeneration in …
Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anter …
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 …