Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation-Reference-Cited by-同舟云学术

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Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

Published:2016-06-02 Issue:3 Volume:17 Page:191-195
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Micalizzi Alessia,Moroni Isabella,Ginevrino Monia,Biagini Tommaso,Mazza Tommaso,Romani Marta,Valente Enza Maria

Funder

European Research Council (BE)

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-016-0488-y.pdf

Reference21 articles.

1. Schurig V, Orman AV, Bowen P (1981) Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet 9:43–53. doi: 10.1002/ajmg.1320090109

2. Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR (2005) Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev Med Child Neurol 47:691–695. doi: 10.1017/S0012162205001404

3. Turkmen S, Demirhan O, Hoffmann K, Diers A, Zimmer C, Sperling K, Mundlos S (2006) Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. J Med Genet 43:461–464. doi: 10.1136/jmg.2005.040030

4. Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS (2005) Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 77:477–483. doi: 10.1086/444400

5. Turkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN (2009) CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet 5:e1000487. doi: 10.1371/journal.pgen.1000487

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1. A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia;Journal of Human Genetics;2024-07-31

2. Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study;Journal of Medical Genetics;2021-03-05

3. Reelin Functions, Mechanisms of Action and Signaling Pathways During Brain Development and Maturation;Biomolecules;2020-06-26

4. Pontocerebellar Hypoplasia: a Pattern Recognition Approach;The Cerebellum;2020-05-14

5. VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern;Neuropediatrics;2019-07-01

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