Motee Al-Ashhab
Overview
Explore the profile of Motee Al-Ashhab including associated specialties, affiliations and a list of published articles.
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5
Citations
74
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0
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Recent Articles
1.
Lin X, Wang W, Yang M, Damseh N, de Sousa M, Jacob F, et al.
Genome Biol
. 2023 Sep;
24(1):216.
PMID: 37773136
Background: Oxidation Resistance 1 (OXR1) gene is a highly conserved gene of the TLDc domain-containing family. OXR1 is involved in fundamental biological and cellular processes, including DNA damage response, antioxidant...
2.
Sczakiel H, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, et al.
Eur J Hum Genet
. 2023 May;
31(8):905-917.
PMID: 37188825
FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13 patients from nine families with biallelic NHLRC2 variants have been...
3.
Damseh N, Obeidat A, Ahammed K, Al-Ashhab M, Awad M, van Hoof A
Am J Med Genet A
. 2023 Apr;
191(7):1923-1928.
PMID: 37024942
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders characterized by a wide phenotypic range including severe motor and cognitive impairments, microcephaly, distinctive facial features, and other features...
4.
Damseh N, Simonin A, Jalas C, Picoraro J, Shaag A, Cho M, et al.
J Med Genet
. 2015 Jun;
52(8):541-7.
PMID: 26041762
Background: L-serine plays an essential role in neuronal development and function. Although a non-essential amino acid, L-serine must be synthesised within the brain because of its poor permeability by the...
5.
Damseh N, Danson C, Al-Ashhab M, Abu-Libdeh B, Gallon M, Sharma K, et al.
Neurogenetics
. 2015 Apr;
16(3):215-221.
PMID: 25894286
The composition of the neuronal cell surface dictates synaptic plasticity and thereby cognitive development. This remodeling of the synapses is governed by the endocytic network which internalize transmembrane proteins, then...