Detalhe da pesquisa
1.
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Hum Genomics
; 18(1): 35, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570878
2.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
; 147(5): 1751-1767, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128568
3.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386308
4.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genet Med
; 26(3): 101034, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054405
5.
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Neurogenetics
; 24(4): 279-289, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597066
6.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
7.
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
J Med Genet
; 58(7): 495-504, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719099
8.
Impacts of the international economic sanctions on Iranian patients with epilepsy.
Epilepsy Behav
; 95: 166-168, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31063932
9.
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Neurogenetics
; 24(4): 317-318, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37668767
10.
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Brain Dev
; 46(4): 167-179, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129218
11.
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
medRxiv
; 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260255
12.
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.
J Neuromuscul Dis
; 10(2): 211-225, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36776076
13.
Medication-resistant acute focal motor seizures in a child with COVID-19 affecting the CNS
Epileptic Disord
; 24(5): 941-946, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792850
14.
Phenotypic continuum of NFU1-related disorders.
Ann Clin Transl Neurol
; 9(12): 2025-2035, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256512
15.
Experimental Therapeutic Strategies in Epilepsies Using Anti-Seizure Medications.
J Exp Pharmacol
; 13: 265-290, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732031
16.
We need well-designed multicenter studies to investigate neurologic manifestations of coronavirus disease 2019.
Curr J Neurol
; 19(3): 150-151, 2020 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38011409