Nebal W Saadi
Overview
Explore the profile of Nebal W Saadi including associated specialties, affiliations and a list of published articles.
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4
Citations
14
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0
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Recent Articles
1.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, et al.
Genet Med
. 2024 Sep;
:101251.
PMID: 39275948
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar...
2.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, et al.
Epilepsia
. 2024 Mar;
65(5):1439-1450.
PMID: 38491959
Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial...
3.
Calame D, Herman I, Maroofian R, Marshall A, Donis K, Fatih J, et al.
Ann Neurol
. 2022 Apr;
92(2):304-321.
PMID: 35471564
Objective: Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is associated with >80 genes, with frequently only few affected...
4.
Meng L, Isohanni P, Shao Y, Graham B, Hickey S, Brooks S, et al.
Ann Neurol
. 2021 Jan;
89(4):828-833.
PMID: 33443317
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit...