Michelle Amaral
Overview
Explore the profile of Michelle Amaral including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
94
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0
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Recent Articles
1.
Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, et al.
Genet Med
. 2022 May;
24(7):1583-1591.
PMID: 35499524
Purpose: CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled...
2.
Davis B, Beasley T, Amaral M, Szaflarski J, Gaston T, Perry Grayson L, et al.
Clin Pharmacol Ther
. 2021 Aug;
110(5):1368-1380.
PMID: 34464454
In patients with treatment-resistant epilepsy (TRE), cannabidiol (CBD) produces variable improvement in seizure control. Patients in the University of Alabama at Birmingham CBD Expanded Access Program (EAP) were enrolled in...
3.
Childerhose J, Rich C, East K, Kelley W, Simmons S, Finnila C, et al.
AJOB Empir Bioeth
. 2021 Apr;
12(3):179-189.
PMID: 33843487
The desire of parents to obtain a genetic diagnosis for their child with intellectual disability and associated symptoms has long been framed as a diagnostic odyssey, an arduous and sometimes...
4.
Baker K, Gordon S, Melland H, Bumbak F, Scott D, Jiang T, et al.
Brain
. 2018 Aug;
141(9):2576-2591.
PMID: 30107533
Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations...