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A Comprehensive Overview of NF1 Mutations in Iranian Patients.
- Published in:
- NeuroMolecular Medicine, 2024, v. 26, n. 1, p. 1, doi. 10.1007/s12017-024-08790-5
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- Publication type:
- Article
Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09560-z
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- Publication type:
- Article
A comparative study on prophylactic efficacy of cinnarizine and amitriptyline in childhood migraine: a randomized double-blind clinical trial.
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- Cephalalgia, 2024, v. 44, n. 4, p. 1, doi. 10.1177/03331024241230963
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- Publication type:
- Article
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
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- Cerebellum, 2024, v. 23, n. 2, p. 391, doi. 10.1007/s12311-023-01537-1
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- Publication type:
- Article
Evaluation of Cerebrospinal Fluid and Plasma Amino Acids Levels in Neonates with Refractory Seizures: A Prospective Cohort Study.
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- Iranian Journal of Neonatology, 2024, v. 15, n. 2, p. 28, doi. 10.22038/ijn.2024.71069.2384
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- Publication type:
- Article
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.
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- Irish Journal of Medical Science, 2024, v. 193, n. 1, p. 449, doi. 10.1007/s11845-023-03452-0
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- Publication type:
- Article
TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 30, doi. 10.1159/000534100
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- Publication type:
- Article
Evaluation of the Effectiveness of Risperidone in Treating Breath-Holding Spells in Children.
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- Iranian Journal of Child Neurology, 2023, v. 17, n. 4, p. 45, doi. 10.22037/ijcn.v18i1.40320
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- Publication type:
- Article
A Comparative Study of EEG and aEEG in Seizure Diagnosis in Infants Admitted to the NICU.
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- Iranian Journal of Child Neurology, 2023, v. 17, n. 4, p. 147, doi. 10.22037/ijcn.v17i4.37554
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- Publication type:
- Article
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.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01643-3
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- Publication type:
- Article
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 9, p. 2919, doi. 10.1111/ene.15871
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- Publication type:
- Article
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
- Published in:
- Cerebellum, 2023, v. 22, n. 4, p. 640, doi. 10.1007/s12311-022-01430-3
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- Publication type:
- Article
Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02794-3
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- Publication type:
- Article
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02780-9
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- Publication type:
- Article
Evaluation of patients presenting with febrile seizures in an Iranian referral hospital: emphasis on the frequency of meningitis and co-infections.
- Published in:
- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04120-z
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- Publication type:
- Article
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01474-z
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- Publication type:
- Article
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2159
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- Publication type:
- Article
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.
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- Neurogenetics, 2023, v. 24, n. 2, p. 67, doi. 10.1007/s10048-022-00708-2
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- Publication type:
- Article
A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-30449-7
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- Publication type:
- Article
The quality of life in children with spinal muscular atrophy: a case–control study.
- Published in:
- BMC Pediatrics, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12887-022-03751-y
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- Publication type:
- Article
Childhood Guillain–Barre syndrome in the SARS‐CoV‐2 era: Is there any causative relation?
- Published in:
- 2022
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- Publication type:
- Case Study
Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.
- Published in:
- Irish Journal of Medical Science, 2022, v. 191, n. 6, p. 2733, doi. 10.1007/s11845-021-02890-y
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- Publication type:
- Article
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
- Published in:
- Acta Neurologica Belgica, 2022, v. 122, n. 5, p. 1201, doi. 10.1007/s13760-021-01717-y
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- Publication type:
- Article
Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 5, p. 1098, doi. 10.1007/s12031-022-01980-5
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- Publication type:
- Article
Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.
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- Journal of Molecular Neuroscience, 2022, v. 72, n. 5, p. 1125, doi. 10.1007/s12031-022-01993-0
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- Publication type:
- Article
Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study.
- Published in:
- Clinical Case Reports, 2022, v. 10, n. 4, p. 1, doi. 10.1002/ccr3.5777
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- Publication type:
- Article
Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the ZNF335 Gene.
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- Journal of Molecular Neuroscience, 2022, v. 72, n. 4, p. 719, doi. 10.1007/s12031-021-01955-y
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- Publication type:
- Article
Hereditary Autonomic Neuropathy of the Oal Cavity and its Management: A case report.
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- Iranian Journal of Child Neurology, 2022, v. 16, n. 1, p. 135, doi. 10.22037/ijcn.v15i4.32016
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- Publication type:
- Article
An open-label phase 1 clinical trial of the allogeneic side population adipose-derived mesenchymal stem cells in SMA type 1 patients.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 1, p. 399, doi. 10.1007/s10072-021-05291-2
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- Publication type:
- Article
Cytomegalovirus Infection and Guillain-Barré Syndrome: The First Case-Control Study in Iran.
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- Iranian Journal of Child Neurology, 2021, v. 15, n. 4, p. 35, doi. 10.22037/ijcn.v15i4.31285
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- Publication type:
- Article
Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.739931
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- Publication type:
- Article
Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation.
- Published in:
- 2021
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- Publication type:
- Case Study
A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 9, p. 3040, doi. 10.1111/ene.14955
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- Publication type:
- Article
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.
- Published in:
- Stem Cell Research & Therapy, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13287-021-02513-4
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- Publication type:
- Article
ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.
- Published in:
- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00345-0
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- Publication type:
- Article
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.677551
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- Publication type:
- Article
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82778-0
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- Publication type:
- Article
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 1, p. 143, doi. 10.1007/s13760-020-01527-8
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- Publication type:
- Article
We need well-designed multicenter studies to investigate neurologic manifestations of coronavirus disease 2019.
- Published in:
- Current Journal of Neurology, 2020, v. 19, n. 3, p. 150
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- Publication type:
- Article
Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2391, doi. 10.1002/ajmg.a.61776
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- Publication type:
- Article
The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.
- Published in:
- Journal of Molecular Neuroscience, 2020, v. 70, n. 10, p. 1565, doi. 10.1007/s12031-020-01594-9
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- Publication type:
- Article
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.
- Published in:
- 2020
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- Publication type:
- journal article
Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
- Published in:
- Acta Neurologica Belgica, 2020, v. 120, n. 3, p. 511, doi. 10.1007/s13760-019-01168-6
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- Publication type:
- Article
Cinnarizine and sodium valproate as the preventive agents of pediatric migraine: A randomized double-blind placebo-controlled trial.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The use of anti-epileptic drugs in prevention of migraine in children and adolescents.
- Published in:
- 2020
- By:
- Publication type:
- letter
Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population.
- Published in:
- Journal of Child Neurology, 2020, v. 35, n. 7, p. 448, doi. 10.1177/0883073820905157
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- Publication type:
- Article
Clonidine Versus Chloral Hydrate for Recording Sleep EEG in Children.
- Published in:
- Iranian Journal of Child Neurology, 2020, v. 14, n. 1, p. 85
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- Publication type:
- Article
Levetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trial.
- Published in:
- 2019
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- Publication type:
- journal article
Neuralgic Amyotrophy with Cervical Root and Cranial Nerves Involvement in a Child.
- Published in:
- Iranian Journal of Child Neurology, 2019, v. 13, n. 4, p. 185
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- Publication type:
- Article