Found: 21
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The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 211, doi. 10.3233/JND-221614
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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.
- 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
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
- Published in:
- 2023
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- Publication type:
- Correction Notice
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
- Published in:
- Neurogenetics, 2023, v. 24, n. 4, p. 279, doi. 10.1007/s10048-023-00730-y
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- Publication type:
- Article
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00598-5
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- Publication type:
- Article
Suspected case of COVID-19-associated Guillain-Barre Syndrome in an Iranian child.
- Published in:
- Current Research in Medical Sciences, 2021, v. 4, n. 2, p. 52
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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
Homozygous in‐frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 4, p. 315, doi. 10.1111/ahg.12378
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- Publication type:
- Article
Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: a case report.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 1, p. 381, doi. 10.1007/s10072-022-06390-4
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- Publication type:
- Article
Persistent dystonia and basal ganglia involvement following metronidazole induced encephalopathy.
- Published in:
- 2020
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- Publication type:
- letter
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
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
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
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
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.
- Published in:
- Journal of Clinical Laboratory Analysis, 2023, v. 37, n. 21/22, p. 1, doi. 10.1002/jcla.24983
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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
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
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
COVID-19 and renal involvement in children: a retrospective study.
- Published in:
- Caspian Journal of Internal Medicine, 2022, v. 13, p. 193, doi. 10.22088/cjim.13.0.193
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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