Detalhe da pesquisa
1.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
2.
Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center.
Neurosciences (Riyadh)
; 27(4): 244-250, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36252977
3.
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Ann Hum Genet
; 85(5): 186-195, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111303
4.
Neurodevelopmental and epilepsy outcomes of patients with infantile spasms treated in a tertiary care center.
Neurosciences (Riyadh)
; 26(1): 21-25, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33530039
5.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820119
6.
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).
BMC Neurol
; 20(1): 207, 2020 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32450808
7.
Pediatric intracranial hypertension. Experience from 2 Tertiary Centers.
Neurosciences (Riyadh)
; 24(4): 257-263, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872803
8.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Physiol Genomics
; 50(11): 929-939, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345904
9.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620724
10.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
11.
Assessment of physicians knowledge and attitudes in the management of febrile seizures.
Neurosciences (Riyadh)
; 23(4): 314-319, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351289
12.
Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.
Front Pediatr
; 12: 1377515, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38745833
13.
Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene.
Front Pediatr
; 11: 1269396, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37842025
14.
Genotype-Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.
Children (Basel)
; 10(8)2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628333
15.
Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter study.
Seizure
; 107: 146-154, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062196
16.
Management of convulsive status epilepticus in children: an adapted clinical practice guideline for pediatricians in Saudi Arabia.
Neurosciences (Riyadh)
; 22(2): 146-155, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28416791
17.
Childhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center.
Int J Pediatr Adolesc Med
; 9(2): 131-135, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35663781
18.
Prevalence and Related Risk Factors of Vitamin D Deficiency in Saudi Children with Epilepsy.
Children (Basel)
; 9(11)2022 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360424
19.
Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.
Children (Basel)
; 9(9)2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36138644
20.
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
Front Genet
; 13: 806190, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35812735