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Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report

Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics, 2018-04, Vol.28 (2)

2018

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Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

BMC medical genomics, 2023-09, Vol.16 (1), p.1-226, Article 226

2023

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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

Scientific reports, 2021-02, Vol.11 (1), p.3231-3231, Article 3231

2021

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A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients

Scientific reports, 2023-02, Vol.13 (1), p.3202-3202, Article 3202

2023

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Evaluation of patients presenting with febrile seizures in an Iranian referral hospital: emphasis on the frequency of meningitis and co-infections

BMC pediatrics, 2023-06, Vol.23 (1), p.316-316, Article 316

2023

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Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.130-130, Article 130

2018

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Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.177-177, Article 177

2023

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Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.190-190, Article 190

2023

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The quality of life in children with spinal muscular atrophy: a case-control study

BMC pediatrics, 2022-12, Vol.22 (1), p.708-708, Article 708

2022

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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

Italian journal of pediatrics, 2023-06, Vol.49 (1), p.64-64, Article 64

2023

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Clinical and imaging outcomes after intrathecal injection of umbilical cord tissue mesenchymal stem cells in cerebral palsy: a randomized double-blind sham-controlled clinical trial

Stem cell research & therapy, 2021-08, Vol.12 (1), p.1-15, Article 439

2021

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RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.184-7, Article 184

2019

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Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy

BMC neurology, 2022-05, Vol.22 (1), p.162-9, Article 162

2022

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Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

BMC neurology, 2020-08, Vol.20 (1), p.291-291, Article 291

2020

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A Probable Causative Factor for an Old Problem: Selenium and Glutathione Peroxidase Appear to Play Important Roles in Epilepsy Pathogenesis

Epilepsia (Copenhagen), 2007-09, Vol.48 (9), p.1750-1755

2007

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The safety and efficacy of umbilical cord blood mononuclear cells in individuals with spastic cerebral palsy: a randomized double-blind sham-controlled clinical trial

BMC neurology, 2022-03, Vol.22 (1), p.123-13, Article 123

2022

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Autism in a child with common variable immunodeficiency

Iranian journal of allergy, asthma, and immunology, 2013-09, Vol.12 (3), p.287-289

2013

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Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

Frontiers in neurology, 2021-09, Vol.12, p.739931-739931

2021

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Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2159-n/a

2023

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ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Human genomics, 2021-07, Vol.15 (1), p.45-45, Article 45

2021

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The Effects of Emotional Content on Phonological Processing in Children Who Stutter

Iranian rehabilitation journal, 2020-12, Vol.18 (4), p.431-444

2020

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Childhood Guillain–Barre syndrome in the SARS‐CoV‐2 era: Is there any causative relation?

Clinical case reports, 2022-12, Vol.10 (12), p.e6772-n/a

2022

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Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study

Clinical case reports, 2022-04, Vol.10 (4), p.e05777-n/a

2022

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Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report

Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients

Evaluation of patients presenting with febrile seizures in an Iranian referral hospital: emphasis on the frequency of meningitis and co-infections

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

The quality of life in children with spinal muscular atrophy: a case-control study

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

Clinical and imaging outcomes after intrathecal injection of umbilical cord tissue mesenchymal stem cells in cerebral palsy: a randomized double-blind sham-controlled clinical trial

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

A Probable Causative Factor for an Old Problem: Selenium and Glutathione Peroxidase Appear to Play Important Roles in Epilepsy Pathogenesis

The safety and efficacy of umbilical cord blood mononuclear cells in individuals with spastic cerebral palsy: a randomized double-blind sham-controlled clinical trial

Autism in a child with common variable immunodeficiency

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

The Effects of Emotional Content on Phonological Processing in Children Who Stutter

Childhood Guillain–Barre syndrome in the SARS‐CoV‐2 era: Is there any causative relation?

Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study

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