Parvaneh Karimzadeh
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View article: Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods Open
Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspect…
View article: Inherited Metabolic Disorder-Related Genes and Mutation Spectrum in Iranians: An 11-Year Analysis Using Next-Generation Sequencing and Sanger Sequencing
Inherited Metabolic Disorder-Related Genes and Mutation Spectrum in Iranians: An 11-Year Analysis Using Next-Generation Sequencing and Sanger Sequencing Open
Background Inherited metabolic disorders (IMDs) are a heterogeneous group of rare diseases caused by genetic variants that disrupt key metabolic pathways. This retrospective study aims to provide a comprehensive molecular understanding of …
View article: Clinical characteristics and treatment outcomes in patients with Niemann–Pick disease type C (NP-C): a cross-sectional study
Clinical characteristics and treatment outcomes in patients with Niemann–Pick disease type C (NP-C): a cross-sectional study Open
Background Niemann–Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration. This study aimed to characterize the clinical features and treatment outcomes of NP-C in…
View article: Autosomal recessive frameshift variant broadens HECW2-related disease spectrum
Autosomal recessive frameshift variant broadens HECW2-related disease spectrum Open
The HECW2 gene encodes a HECT (homologous to E6-AP carboxy terminus)-type E3 ubiquitin ligase that plays a critical role in neurodevelopment. Pathogenic variants in HECW2 are associated with a neurodevelopmental disorder characterized by h…
View article: Glycine <i>N</i>‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism
Glycine <i>N</i>‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism Open
The enzyme glycine N ‐acyltransferase (GLYAT) plays a crucial role in detoxifying both xenobiotic and endogenous compounds that contain a carboxylic acid group, such as benzoic acid. Data on the impact of human GLYAT on the glycine conjuga…
View article: Overview of genetic mutations causing adrenoleukodystrophy: A case-series study
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study Open
View article: BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients
BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients Open
Introduction: Mutations in the branched-chain keto-acid dehydrogenase kinase gene (BCKDK), leading to low plasma branched-chain amino acids (BCAAs) levels, have been reported as a contributor to comorbid intellectual disability, autism, ep…
View article: Genetic spectrum among Iranian individuals with neuromuscular disorders using Next-Generation Sequencing and multiple ligation-dependent probe amplification methods: An 11-year overview
Genetic spectrum among Iranian individuals with neuromuscular disorders using Next-Generation Sequencing and multiple ligation-dependent probe amplification methods: An 11-year overview Open
Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspect…
View article: The First Report of an Autosomal Recessive Frameshift Variant in the Hecw2 Gene: Expanding the Genetic and Phenotype Spectrum of Hecw2-Related Diseases
The First Report of an Autosomal Recessive Frameshift Variant in the Hecw2 Gene: Expanding the Genetic and Phenotype Spectrum of Hecw2-Related Diseases Open
View article: P279: Application of next-generation sequencing in the diagnosis of inherited metabolic disorders in Iran: An 11-year overview
P279: Application of next-generation sequencing in the diagnosis of inherited metabolic disorders in Iran: An 11-year overview Open
View article: P159: Gene and mutation spectrum among Iranian individuals with neuromuscular disorders: An 11-year consolidated overview*
P159: Gene and mutation spectrum among Iranian individuals with neuromuscular disorders: An 11-year consolidated overview* Open
View article: Framework and overview of the Pediatric Spinal Muscular Atrophy Registry Program of Iran
Framework and overview of the Pediatric Spinal Muscular Atrophy Registry Program of Iran Open
Background The Pediatric Spinal Muscular Atrophy Registry Program of Iran (PSMAIR) was established as part of the global TREAT-NMD network, which collects data from spinal muscular atrophy (SMA) patients under 18 years of age in Iran. The …
View article: Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review
Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review Open
View article: A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings
A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings Open
This is the first report of germline mosaicism in the PCDH19 gene in the Iranian population and expanded the phenotypic spectrum of DEE9. Genetic testing has become an effective way of determining the diagnosis. Parental germline mo…
View article: Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome Open
Collectively, when presented with patients showcasing ataxia, encephalopathy, and basal ganglia necrosis, it is essential to account for thiamine deficiency in light of the potential advantages of prompt intervention. At times, it may be f…
View article: Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population Open
View article: Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review Open
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 types of PCH…
View article: P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders
P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders Open
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 of Middle Eastern patients have reporte…
View article: GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.
GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography. Open
This study concluded that most of the patients are the result of family marriage, and most of the juvenile patients are developmentally normal before the onset of the disease. In addition, more than 50% of infantile patients reach their de…
View article: Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.
Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum. Open
This study identifies a novel mutation in the TREX1 gene in this family and highlights the efficiency of next-generation sequencing-based techniques for obtaining a definite diagnosis in patients with early-onset encephalopathy.
View article: The Prevalence of Serum Anti Nuclear Antibodies in Children Treated With Anti-Epileptics
The Prevalence of Serum Anti Nuclear Antibodies in Children Treated With Anti-Epileptics Open
To evaluate the prevalence of positive serum antinuclear antibody (ANA) in children with epilepsy using three major antiepileptic drugs (phenytoin, carbamazepine and ethosuximide), 60 children under 18 years with epilepsy who were referred…
View article: Psychometric Properties of the Persian Version of the Dizziness Handicap Inventory for Patient Caregivers in Children
Psychometric Properties of the Persian Version of the Dizziness Handicap Inventory for Patient Caregivers in Children Open
Background and Aim: Questionnaires are useful tools for clinicians. This study aimed to translate the Dizziness Handicap Inventory for Patient Caregivers (DHI-PC) into Persian (DHI-PC-P) and assess its psychometric properties for children …
View article: Clinical and genetic characterization of Neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: Identification of 11 novel mutations
Clinical and genetic characterization of Neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: Identification of 11 novel mutations Open
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases witch considered among the most frequent cause of dementia in childhood worldwide This study aimed to identify the gene variants, molecular etiologies, …
View article: Neuropsychiatric Manifestations of COVID-19 in Hospitalized Pediatrics: A Multicenter Cross-sectional Study
Neuropsychiatric Manifestations of COVID-19 in Hospitalized Pediatrics: A Multicenter Cross-sectional Study Open
Background: The large proportion of coronavirus disease 2019 (COVID-19) patients has been associated with a large number of neuropsychiatric manifestations. Despite the high prevalence of COVID-19, few studies have examined such manifestat…
View article: Comparing Pregabalin and Sodium Valproate in Pediatric Migraine Prophylaxis: A Randomized Clinical Trial.
Comparing Pregabalin and Sodium Valproate in Pediatric Migraine Prophylaxis: A Randomized Clinical Trial. Open
Considering the better effect of Pregabalin in the reduction of frequency of migraine attacks and pain-reducing medications consumption, Pregabalin could be a proper substitute for Sodium Valproate for prophylactic migraine treatment in ch…
View article: Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability Open
Background: Ion channel dysfunction in the brain can lead to impairment of neuronal membranes and generate several neurological diseases, especially neurodevelopmental disorders. Methods: In this study, we set out to delineate the genotype…
View article: Neurodegenerative disorder and diffuse brain calcifications due to <scp><i>FARSB</i></scp> mutation in two siblings
Neurodegenerative disorder and diffuse brain calcifications due to <span><i>FARSB</i></span> mutation in two siblings Open
Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozy…
View article: A Girl with Myelopathy and Vision Loss, Misdiagnosis as Neuromyelitis Optica Spectrum Disorder: The First Iranian Case Report on Biotinidase Deficiency
A Girl with Myelopathy and Vision Loss, Misdiagnosis as Neuromyelitis Optica Spectrum Disorder: The First Iranian Case Report on Biotinidase Deficiency Open
Introduction: Biotinidase (BTD) deficiency may lead to variable neurologic manifestations. Spinal cord involvement can be an unusual presentation of the late-onset disorder. Case Presentation: We describe a six-year-and-ten-month-old girl …
View article: Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations Open
View article: Neuroimaging Findings of the High-risk Neonates and Infants Referred to Mofid Children's Hospital.
Neuroimaging Findings of the High-risk Neonates and Infants Referred to Mofid Children's Hospital. Open
In this study, we showed that at any time before six months or after one year of age, the result of brain MRI was a strong predictor of the patient's outcome.