Carmen Brewer
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Explore the profile of Carmen Brewer including associated specialties, affiliations and a list of published articles.
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Articles
31
Citations
1196
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Recent Articles
1.
DSouza P, Farmer C, Johnston J, Han S, Adams D, Hartman A, et al.
Genet Med
. 2024 Apr;
26(7):101144.
PMID: 38641994
Purpose: GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments. Methods: Forty-one individuals with type II (late-infantile...
2.
DSouza P, Farmer C, Johnston J, Han S, Adams D, Hartman A, et al.
medRxiv
. 2024 Feb;
PMID: 38313286
Purpose: GM1 gangliosidosis (GM1) is an ultra-rare lysosomal storage disease caused by pathogenic variants in galactosidase beta 1 (; NM_000404), primarily characterized by neurodegeneration, often in children. There are no...
3.
McDermott D, Velez D, Cho E, Cowen E, DiGiovanna J, Pastrana D, et al.
J Clin Invest
. 2023 Aug;
133(19).
PMID: 37561579
BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous gain-of-function CXCR4 mutations. Myelokathexis is a kind of neutropenia caused by neutrophil retention in bone...
4.
Wafa T, Zalewski C, Tamaki C, Barac-Cikoja D, Bakke M, Brewer C
Gait Posture
. 2022 Dec;
100:188-192.
PMID: 36571908
Background: The sensory organization test (SOT) is an established and effective method for assessing postural stability and determining fall risk. SOT equilibrium scores are derived from the relationship between an...
5.
Whitman M, Barry B, Robson C, Facio F, Van Ryzin C, Chan W, et al.
Hum Genet
. 2021 Oct;
140(12):1709-1731.
PMID: 34652576
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations....
6.
Fernandez K, Allen P, Campbell M, Page B, Townes T, Li C, et al.
J Clin Invest
. 2021 Jan;
131(1).
PMID: 33393488
BACKGROUNDCisplatin is widely used to treat adult and pediatric cancers. It is the most ototoxic drug in clinical use, resulting in permanent hearing loss in approximately 50% of treated patients....
7.
Modica C, Johnson B, Zalewski C, King K, Brewer C, King J, et al.
Front Neurol
. 2021 Jan;
11:588377.
PMID: 33391154
Blast exposure is a potential hazard in modern military operations and training, especially for some military occupations. Helmets, peripheral armor, hearing protection, and eye protection worn by military personnel provide...
8.
Rossi S, Antal A, Bestmann S, Bikson M, Brewer C, Brockmoller J, et al.
Clin Neurophysiol
. 2020 Nov;
132(1):269-306.
PMID: 33243615
This article is based on a consensus conference, promoted and supported by the International Federation of Clinical Neurophysiology (IFCN), which took place in Siena (Italy) in October 2018. The meeting...
9.
Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, et al.
Hum Mutat
. 2018 Nov;
40(2):162-176.
PMID: 30461122
KCNE1 encodes a regulatory subunit of the KCNQ1 potassium channel-complex. Both KCNE1 and KCNQ1 are necessary for normal hearing and cardiac ventricular repolarization. Recessive variants in these genes are associated...
10.
Boudin-George A, Brewer C, Watts K
Int J Audiol
. 2018 Sep;
57(sup4):S1-S2.
PMID: 30257144
No abstract available.