Detalhe da pesquisa
1.
The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.
Neuroradiology
; 2024 Jun 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38880823
2.
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
Hum Genet
; 142(8): 1001-1016, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37074398
3.
Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene.
Neurol Sci
; 44(11): 4041-4048, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37369877
4.
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Hereditas
; 159(1): 8, 2022 Jan 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35086560
5.
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
BMC Med Genet
; 18(1): 73, 2017 07 17.
Artigo
Inglês
| MEDLINE | ID: mdl-28716012
6.
Evaluation of Lymphocyte Transformation Test Results in Patients with Delayed Hypersensitivity Reactions following the Use of Anticonvulsant Drugs.
Int Arch Allergy Immunol
; 170(3): 158-62, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27560351
7.
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
BMC Pediatr
; 16: 107, 2016 07 22.
Artigo
Inglês
| MEDLINE | ID: mdl-27449637
8.
GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.
Iran J Child Neurol
; 18(2): 127-140, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38617391
9.
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.
Ophthalmic Genet
; 45(2): 120-125, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38234168
10.
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome.
Heliyon
; 10(6): e27434, 2024 Mar 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38501011
11.
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
BMC Med Genomics
; 17(1): 51, 2024 Feb 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38347586
12.
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
NPJ Genom Med
; 9(1): 12, 2024 Feb 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38374194
13.
Comparing Pregabalin and Sodium Valproate in Pediatric Migraine Prophylaxis: A Randomized Clinical Trial.
Iran J Child Neurol
; 17(3): 121-131, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37637787
14.
Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.
Neuromuscul Disord
; 33(7): 589-595, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37393748
15.
Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings.
Clin Case Rep
; 10(8): e6195, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35937029
16.
Neuroimaging Findings of the High-risk Neonates and Infants Referred to Mofid Children's Hospital.
Iran J Child Neurol
; 16(4): 33-44, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36478995
17.
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Arch Iran Med
; 25(12): 788-797, 2022 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37543906
18.
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
J Mol Neurosci
; 72(3): 555-564, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34554397
19.
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Neuromuscul Disord
; 32(10): 806-810, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36309462
20.
A case of diffuse leptomeningeal glioneuronal tumor in a 10-year-old boy: First report from Iran.
Clin Case Rep
; 9(12): e05199, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34938560