Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38118446
2.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33861953
3.
The diagnostic value of MRI findings in pediatric idiopathic intracranial hypertension: a case-control study.
Childs Nerv Syst
; 2024 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38478069
4.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31585108
5.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Am J Med Genet A
; 188(9): 2652-2665, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35670379
6.
The Effect of Melatonin on Sleep Disorders in Children with Cerebral Palsy A Randomized Clinical Trial.
Iran J Child Neurol
; 18(1): 51-59, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38375130
7.
The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report.
Iran J Child Neurol
; 17(2): 149-161, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37091475
8.
Comparison of new biomarkers in the diagnosis of perinatal asphyxia.
Iran J Child Neurol
; 17(1): 99-110, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36721830
9.
Therapeutical impacts of transcranial direct current stimulation on drug-resistant epilepsy in pediatric patients: A double-blind parallel-group randomized clinical trial.
Epilepsy Res
; 190: 107074, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36657251
10.
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Mov Disord Clin Pract
; 10(1): 101-108, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36698997
11.
Effect of Curcumin on Pediatric Intractable Epilepsy.
Iran J Child Neurol
; 16(3): 35-45, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36204434
12.
A case report of Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) as an atypical presentation of PRES in children: A case report and review of the literature.
Iran J Child Neurol
; 16(2): 149-154, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35497107
13.
Recurrent Painful Ophthalmoplegic Neuropathy with Unilateral Oculomotor and Trochlear Nerve Palsy in an 8-year-old Girl.
J Binocul Vis Ocul Motil
; 72(4): 199-204, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35867412
14.
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Iran J Child Neurol
; 15(2): 17-31, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-36213152
15.
Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case with NDUFS4 gene mutation.
Clin Case Rep
; 9(9): e04748, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34484776
16.
Efficacy and tolerability of hydroalcoholic extract of Paeonia officinalis in children with intractable epilepsy: An open-label pilot study.
Epilepsy Res
; 176: 106735, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34388412
17.
PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.
Iran J Basic Med Sci
; 24(9): 1190-1195, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35083005
18.
Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.
Front Neurol
; 12: 739931, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34621239
19.
Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation.
Brain Dev
; 41(2): 182-186, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-30195441
20.
Psychological Signs as the Only Presentation of Wilson's Disease in an 11-Year-Old Boy.
Iran J Child Neurol
; 12(2): 113-116, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29696053