Mohammed Almannai
Overview
Explore the profile of Mohammed Almannai including associated specialties, affiliations and a list of published articles.
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Articles
49
Citations
742
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Recent Articles
1.
Alshamlani L, Alsulaim D, Alabbad R, Alhoshan A, Alkhoder J, Alsaleh N, et al.
Appl Clin Genet
. 2024 Oct;
17:151-158.
PMID: 39377010
Background: Consanguinity, or the practice of marrying close relatives, is a common cultural tradition in Saudi Arabia, with rates among the highest in the world. This practice has significant implications...
2.
Saleh M, Hamhom A, Al-Otaibi A, Alghamdi M, Housawi Y, Aljadhai Y, et al.
Pediatr Neurol
. 2024 Apr;
155:149-155.
PMID: 38653183
Background: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in...
3.
Almannai M, Marafi D, Zaki M, Maroofian R, Efthymiou S, Saadi N, et al.
Clin Genet
. 2024 Feb;
105(6):620-629.
PMID: 38356149
PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals....
4.
Alsubhi A, Aldarwish M, Agrawal P, Al Tala S, Eldadah O, Alghamdi A, et al.
Mol Genet Metab Rep
. 2023 Dec;
38:101027.
PMID: 38077956
gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in were initially linked to myofibrillar myopathy and over...
5.
Abukhaled M, Al Muqbil M, Alghamdi M, Hundallah K, Suleiman J, Ben-Omran T, et al.
Eur J Pediatr
. 2023 May;
182(6):2547-2548.
PMID: 37140704
No abstract available.
6.
Abukhaled M, Al Muqbil M, Alghamdi M, Hundallah K, Suleiman J, Ben-Omran T, et al.
Eur J Pediatr
. 2023 Mar;
182(6):2535-2545.
PMID: 36928758
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited neurometabolic disorder that can lead to severe physical and developmental impairment. This report includes 16 patients from the Middle East...
7.
Almannai M, AlAbdi L, Maddirevula S, Alotaibi M, Alsaleem B, Aljadhai Y, et al.
Hum Genet
. 2022 Dec;
142(3):399-405.
PMID: 36564622
Human disorders of the enteric nervous system (ENS), e.g., Hirschsprung's disease, are rarely associated with major central nervous system involvement. We describe two families each segregating a different homozygous truncating...
8.
Almannai M, Marafi D, El-Hattab A
Front Mol Neurosci
. 2022 Sep;
15:1011918.
PMID: 36157071
WIPI (D-repeat protein nteracting with hosphonositides) are important effectors in autophagy. These proteins bind phosphoinositides and recruit autophagy proteins. In mammals, there are four WIPI proteins: WIPI1, WIPI2, WIPI3 (WDR45B),...
9.
Almannai M, El-Hattab A, Azamian M, Ali M, Scaglia F
Mol Genet Metab
. 2022 Aug;
137(1-2):40-48.
PMID: 35914366
Mitochondrial DNA (mtDNA) replication depends on the mitochondrial import of hundreds of nuclear encoded proteins that control the mitochondrial genome maintenance and integrity. Defects in these processes result in an...
10.
Almannai M, Salah A, El-Hattab A
Membranes (Basel)
. 2022 Jun;
12(6).
PMID: 35736332
Mitochondria are surrounded by two membranes; the outer mitochondrial membrane and the inner mitochondrial membrane. They are unique organelles since they have their own DNA, the mitochondrial DNA (mtDNA), which...