Detalhe da pesquisa
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38527963
2.
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Brain
; 2024 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38848546
3.
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Clin Genet
; 105(5): 510-522, 2024 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38221827
4.
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.
Am J Med Genet A
; 191(9): 2354-2363, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37596900
5.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35373813
6.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34952832
7.
Organic acidurias in Egyptian children: The urge for high-risk screening.
Pediatr Int
; 65(1): e15469, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36609685
8.
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 105(5): 1048-1056, 2019 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31668703
9.
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.
Clin Genet
; 100(5): 641-642, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34378789
10.
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Neurol Sci
; 42(7): 2737-2745, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33123925
11.
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
J Med Genet
; 57(4): 274-282, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31586943
12.
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Hum Mutat
; 41(9): 1469-1487, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32449975
13.
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Clin Genet
; 98(6): 598-605, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32875576
14.
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Ann Neurol
; 80(1): 59-70, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27130255
15.
Mitochondrial Diseases as Model of Neurodegeneration.
Adv Exp Med Biol
; 1007: 129-155, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28840556
16.
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
Genet Med
; 18(5): 452-8, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26312827
17.
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
BMC Neurol
; 15: 205, 2015 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26471939
18.
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Clin Genet
; 95(4): 537-539, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30633340
19.
PRRT2 mutations: exploring the phenotypical boundaries.
J Neurol Neurosurg Psychiatry
; 85(4): 462-5, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24101679
20.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
medRxiv
; 2024 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38496416