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General Principles of the Medical Management of Epilepsy in Children: A Literature Review.
- Published in:
- Reviews in Clinical Medicine, 2018, v. 5, n. 2, p. 49
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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
Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.
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- 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
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
Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI.
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- International Journal of Dermatology, 2014, v. 53, n. 6, p. 736, doi. 10.1111/ijd.12303
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- Publication type:
- Article
Association of the Single Nucleotide Polymorphisms of the Genes Encoding IL-2 and IFN-γ with Febrile Seizure.
- Published in:
- Acta Medica Iranica, 2017, v. 55, n. 6, p. 354
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- Publication type:
- Article
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
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- Acta Medica Iranica, 2017, v. 55, n. 2, p. 128
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- Publication type:
- Article
Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population.
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- Journal of Child Neurology, 2020, v. 35, n. 7, p. 448, doi. 10.1177/0883073820905157
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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
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
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- Acta Neurologica Belgica, 2021, v. 121, n. 1, p. 143, doi. 10.1007/s13760-020-01527-8
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- Publication type:
- 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.
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- Acta Neurologica Belgica, 2020, v. 120, n. 3, p. 511, doi. 10.1007/s13760-019-01168-6
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- Publication type:
- Article
RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.
- Published in:
- 2019
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- Publication type:
- case study
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
- Published in:
- 2018
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- Publication type:
- journal article
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.
- Published in:
- Neurogenetics, 2023, v. 24, n. 2, p. 67, doi. 10.1007/s10048-022-00708-2
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- Publication type:
- Article
ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.
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- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00345-0
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- Publication type:
- Article
Vaccine-associated Paralytic Poliomyelitis in Immunodeficient Children, Iran, 1995-2008.
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- Emerging Infectious Diseases, 2010, v. 16, n. 7, p. 1133, doi. 10.3201/eid1607.091606
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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
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
Incidence of Mongolian Spots and its Common Sites at Two University Hospitals in Tehran, Iran.
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- Pediatric Dermatology, 2010, v. 27, n. 4, p. 397, doi. 10.1111/j.1525-1470.2010.01168.x
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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.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01643-3
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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
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
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
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
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
Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09560-z
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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
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
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- Cerebellum, 2023, v. 22, n. 4, p. 640, doi. 10.1007/s12311-022-01430-3
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- Publication type:
- Article
Executive dysfunction in treated phenylketonuric patients.
- Published in:
- European Child & Adolescent Psychiatry, 2009, v. 18, n. 6, p. 360, doi. 10.1007/s00787-009-0738-8
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- Publication type:
- Article
A Comprehensive Overview of NF1 Mutations in Iranian Patients.
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- NeuroMolecular Medicine, 2024, v. 26, n. 1, p. 1, doi. 10.1007/s12017-024-08790-5
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- Publication type:
- Article
A Probable Causative Factor for an Old Problem: Selenium and Glutathione Peroxidase Appear to Play Important Roles in Epilepsy Pathogenesis.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 9, p. 1750, doi. 10.1111/j.1528-1167.2007.01143.x
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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
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
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
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
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
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
A comparative study on prophylactic efficacy of cinnarizine and amitriptyline in childhood migraine: a randomized double-blind clinical trial.
- Published in:
- Cephalalgia, 2024, v. 44, n. 4, p. 1, doi. 10.1177/03331024241230963
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- Publication type:
- Article
B3GALNT2 mutations associated with nonsyndromic autosomal recessive intellectual disability reveal a lack of genotype- phenotype associations in the muscular dystrophy-dystroglycanopathies.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0505-2
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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
Autism in a child with common variable immunodeficiency.
- Published in:
- 2013
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- Publication type:
- Journal Article
Autism in a Child with Common Variable Immunodeficiency.
- Published in:
- Iranian Journal of Allergy, Asthma & Immunology, 2013, v. 12, n. 3, p. 287
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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
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
- By:
- Publication type:
- Article
Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy.
- Published in:
- 2022
- By:
- Publication type:
- journal 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
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
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3170, doi. 10.1002/ajmg.a.36772
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- Publication type:
- Article
Late-onset pompe disease in Iran: A clinical and genetic report.
- Published in:
- 2017
- By:
- Publication type:
- journal article