Richard E Person
Overview
Explore the profile of Richard E Person including associated specialties, affiliations and a list of published articles.
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Articles
36
Citations
1693
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Recent Articles
1.
Weerts M, Lanko K, Guzman-Vega F, Jackson A, Ramakrishnan R, Cardona-Londono K, et al.
Genet Med
. 2021 Aug;
23(11):2122-2137.
PMID: 34345025
Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients...
2.
Cousin M, Creighton B, Breau K, Spillmann R, Torti E, Dontu S, et al.
Nat Genet
. 2021 Jul;
53(7):1006-1021.
PMID: 34211179
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies....
3.
El Ghaleb Y, Schneeberger P, Fernandez-Quintero M, Geisler S, Pelizzari S, Polstra A, et al.
Brain
. 2021 Mar;
144(7):2092-2106.
PMID: 33704440
T-type calcium channels (Cav3.1 to Cav3.3) regulate low-threshold calcium spikes, burst firing and rhythmic oscillations of neurons and are involved in sensory processing, sleep, and hormone and neurotransmitter release. Here,...
4.
Brunet T, McWalter K, Mayerhanser K, Anbouba G, Armstrong-Javors A, Bader I, et al.
Genet Med
. 2020 Nov;
23(2):384-395.
PMID: 33173220
Purpose: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). Methods: Twenty-five individuals (15 males, 10 females) with causative...
5.
Zech M, Jech R, Boesch S, Skorvanek M, Weber S, Wagner M, et al.
Lancet Neurol
. 2020 Oct;
19(11):908-918.
PMID: 33098801
Background: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes...
6.
Scala M, Mojarrad M, Riazuddin S, Brigatti K, Ammous Z, Cohen J, et al.
Brain
. 2020 Apr;
143(4):e31.
PMID: 32227164
No abstract available.
7.
Nguyen T, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, et al.
Am J Hum Genet
. 2020 Mar;
106(4):484-495.
PMID: 32220290
Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored proteins...
8.
Vandervore L, Schot R, Milanese C, Smits D, Kasteleijn E, Fry A, et al.
Am J Hum Genet
. 2019 Nov;
105(6):1126-1147.
PMID: 31735293
The redox state of the neural progenitors regulates physiological processes such as neuronal differentiation and dendritic and axonal growth. The relevance of endoplasmic reticulum (ER)-associated oxidoreductases in these processes is...
9.
Bend R, Cohen L, Carter M, Lyons M, Niyazov D, Mikati M, et al.
Eur J Hum Genet
. 2019 Aug;
28(1):76-87.
PMID: 31395947
PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated...
10.
Salpietro V, Dixon C, Guo H, Bello O, Vandrovcova J, Efthymiou S, et al.
Nat Commun
. 2019 Jul;
10(1):3094.
PMID: 31300657
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the...