Chadi Al Alam
Overview
Explore the profile of Chadi Al Alam including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
23
Followers
0
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Recent Articles
1.
Nakamura Y, Shimada I, Maroofian R, Falabella M, Zaki M, Fujimoto M, et al.
Brain
. 2024 Jul;
147(11):3949-3967.
PMID: 39082157
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have...
2.
DOnofrio G, Accogli A, Severino M, Caliskan H, Kokotovic T, Blazekovic A, et al.
Hum Genet
. 2023 May;
142(7):909-925.
PMID: 37183190
Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell-cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with "Pitt-Hopkins-like syndrome-1"...
3.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff J, et al.
Genet Med
. 2023 May;
25(8):100885.
PMID: 37165955
Purpose: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. Methods: By international collaboration, we assembled...
4.
Christensen M, Levy A, Mohammadi N, Niceta M, Kaiyrzhanov R, Dentici M, et al.
Clin Genet
. 2022 May;
102(2):98-109.
PMID: 35616059
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from...
5.
Inati A, Al Alam C, El Ojaimi C, Hamad T, Kanakamedala H, Pilipovic V, et al.
Hemoglobin
. 2021 May;
45(2):80-86.
PMID: 33980108
Sickle cell disease affects more than 30 million people worldwide, including 0.1% of the population in Lebanon. It is characterized by unpredictable and painful vaso-occlusive crises (VOCs) that may lead...
6.
Ballout R, Al Alam C, Bonnen P, Huemer M, El-Hattab A, Shbarou R
Front Genet
. 2019 Feb;
10:39.
PMID: 30804983
Mitochondrial DNA depletion syndromes (MTDPS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA (mtDNA) maintenance. Among those, mutations result in the...