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» Authors » Parvaneh Karimzadeh

Parvaneh Karimzadeh

Explore the profile of Parvaneh Karimzadeh including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 76
Citations 316
Followers 0
Related Specialties
Pediatrics
Neurology
Genetics
Top 10 Co-Authors
Mohammad Ghofrani
Narjes Jafari
Seyed Hassan Tonekaboni
Mohammad Miryounesi
Mohammad Mahdi Taghdiri
Farzad Ahmadabadi
Mahmoud Reza Ashrafi
Massoud Houshmand
Hamid Nemati
Seyed Hasan Tonekaboni
Published In
Iran J Child Neurol
J Child Neurol
Clin Case Rep
Biomed Rep
Neuromuscul Disord
Affiliations
Soon will be listed here.
Recent Articles
1.
Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review
Moeinafshar A, Tehrani Fateh S, Hashemi-Gorji F, Karimzadeh P, Gholibeglou E, Rostami M, et al.
BMC Neurol . 2024 Nov; 24(1):455. PMID: 39567938
Background: Hereditary sensory and autonomic neuropathy type 9 (HSAN9) is a rare genetic disorder caused by genetic alterations in the TECPR2 locus and is characterized by developmental and intellectual disability,...
2.
A Case Report of Parental Germline Mosaicism in the Gene of Two Iranian Siblings
Alijanpour S, Ghafouri-Fard S, Tonekaboni S, Karimzadeh P, Ahmadabadi F, Rahimian E, et al.
Basic Clin Neurosci . 2024 Nov; 15(4):541-552. PMID: 39553263
Introduction: Developmental and epileptic encephalopathy 9 (DEE9) is caused by pathogenic variants in the gene. The clinical features include early-onset seizures that are often provoked by fever and display clustered...
3.
Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum
Tasharrofi B, Karimzadeh P, Asadollahi M, Hasani S, Heidari M, Keramatipour M
Iran J Child Neurol . 2024 Jul; 18(3):117-129. PMID: 38988838
Objectives: Mutations in the TREX1 gene cause Aicardi-Goutières syndrome (AGS) 1, associated with a spectrum of autoimmune and neurodegenerative manifestations. AGS 1, the most severe neonatal type of AGS, is...
4.
The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility
Rahimian E, DArco F, Sudhakar S, Tahsini M, Azin N, Morovvati M, et al.
Neuroradiology . 2024 Jun; 66(10):1829-1835. PMID: 38880823
Introduction: Canavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that degrades N-acetylaspartate (NAA). The disease is characterized by progressive...
5.
GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography
Karimzadeh P, Ebrahimi M, Etemad K, Ahmad Abadi F, Hosseini Nezhad Z
Iran J Child Neurol . 2024 Apr; 18(2):127-140. PMID: 38617391
Abstract: Gangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits. Regarding phenotype, GM1...
6.
Identification of novel mutations in and genes in families exhibiting thiamine metabolism dysfunction syndrome
Norouzi Rostami F, Sadeghi H, Hashemi-Gorji F, Tehrani Fateh S, Mirfakhraie R, Karimzadeh P, et al.
Heliyon . 2024 Mar; 10(6):e27434. PMID: 38501011
Background And Aims: The occurrence of thiamine metabolism dysfunction syndrome (THMD), a rare autosomal recessive condition, may be linked to various mutations found in the and genes. The disease chiefly...
7.
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Abolhassani A, Fattahi Z, Beheshtian M, Fadaee M, Vazehan R, Ahangari F, et al.
NPJ Genom Med . 2024 Feb; 9(1):12. PMID: 38374194
Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts...
8.
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review
Ghasemi M, Tehrani Fateh S, Moeinafshar A, Sadeghi H, Karimzadeh P, Mirfakhraie R, et al.
BMC Med Genomics . 2024 Feb; 17(1):51. PMID: 38347586
Background: Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some...
9.
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature
Abdi F, Parvin S, Zare Hosseinabadi V, Kachuei M, Gordiz A, Hemmati S, et al.
Ophthalmic Genet . 2024 Jan; 45(2):120-125. PMID: 38234168
Introduction: Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD...
10.
Comparing Pregabalin and Sodium Valproate in Pediatric Migraine Prophylaxis: A Randomized Clinical Trial
Jafari N, Nasehi M, Nasiri Eghbali A, Taghdiri M, Karimzadeh P
Iran J Child Neurol . 2023 Aug; 17(3):121-131. PMID: 37637787
Objectives: Migraine is a common disorder in children, and its prophylaxis with minimal side effects is momentous. This study aimed to compare the efficacy of Pregabalin and Sodium Valproate in...