RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation-Reference-Cited by-同舟云学术

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RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation

Published:2023-12 Issue:12 Volume:110 Page:2103-2111
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Rios Jonathan J.^ORCID,Li Yang,Paria Nandina,Bohlender Ryan J.,Huff Chad,Rosenfeld Jill A.,Liu Pengfei,Bi Weimin,Haga Kentaro,Fukuda Mitsunori,Vashisth Shayal,Kaur Kiran,Chahrour Maria H.,Bober Michael B.,Duker Angela L.,Ladha Farah A.,Hanchard Neil A.,Atala Kristhen,Khanshour Anas M.,Smith Linsley,Wise Carol A.,Delgado Mauricio R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference34 articles.

1. Hereditary spastic paraplegia: clinical principles and genetic advances;Fink;Semin. Neurol.,2014

2. Cellular pathways of hereditary spastic paraplegia;Blackstone;Annu. Rev. Neurosci.,2012

3. Hereditary spastic paraplegias: membrane traffic and the motor pathway;Blackstone;Nat. Rev. Neurosci.,2011

4. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia;Esteves;Am. J. Hum. Genet.,2014

5. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation;Khan;Eur. J. Hum. Genet.,2014

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1. Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases;The American Journal of Human Genetics;2024-01

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