235 results on '"Nilipour, Yalda"'
Search Results
2. A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
3. Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
4. A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
5. Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients
6. Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients
7. Glioma Tumor Grading Using Radiomics on Conventional MRI: A Comparative Study of WHO 2021 and WHO 2016 Classification of Central Nervous Tumors.
8. Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study.
9. A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.
10. Phenotypic and genotyping spectrum of two Iranian cases with RBCK1‐associated polyglucosan body myopathy.
11. Evaluation of Radiographic, Neuropathological, and Demographic Findings in Children Aged 1 To 18 Years with Brain Tumor.
12. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
13. Neutral Lipid Storage Disease with Myopathy: Clinicopathological and Genetic Features of Nine Iranian Patients
14. Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
15. Co‐occurrence of celiac disease and glycogen storage disease in a five‐year‐old patient with diabetes mellitus; a case report
16. Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report
17. BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes
18. Bi‐allelic loss of function variant in theNRCAMgene is associated with motor‐predominant axonal polyneuropathy; the second report
19. Two cases of inclusion body myositis presenting with unusual symptoms, head drop and facial diplegia and different responses to intravenous immunoglobulin treatment
20. Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3
21. Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report.
22. Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group
23. Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation
24. Neurological Complications of COVID-19: A Rare Case of Bilateral Blindness
25. A case of diffuse leptomeningeal glioneuronal tumor in a 10‐year‐old boy: First report from Iran
26. Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus
27. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
28. The Art of Muscle Biopsy in the New Genetic Era: A Narrative Review
29. Juvenile Clinically Amyopathic Dermatomyositis: A Case Report and Review of Literature
30. Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome
31. Thymic Neoplasm: A Rare Disease With Unusual Neurologic Manifestations
32. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
33. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families
34. Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients
35. WITHDRAWN: Identification of a Novel MICU1 Nonsense Variant Causes Myopathy with Extrapyramidal Signs in an Iranian Consanguineous Family
36. Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran
37. Sporadic inclusion body myositis (sIBM) in a patient with a history of diffuse large B-cell lymphoma
38. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
39. Tumefactive rebound of multiple sclerosis after the short-term cessation of fingolimod: A case report
40. Diffuse Multifocal Bilateral Dysembryoplastic Neuroepithelial Tumor: A Very Unusual Case Report
41. Estrogen Receptor Expression in Glial Tumors of Iranian Patients: A Single Center Experience
42. An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
43. Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect
44. A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran [Corrigendum]
45. Demographic, neuroradiological and neuropathological characteristics among children with central nervous system tumors in the iranian referral center for stereotaxis.
46. Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection
47. Serum Levels of Interleukin-10 and Tumor Growth Factor-β1 in Children With Eosinophilic Gastrointestinal Disorders Compared to Control Groups
48. Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24
49. Increased regulatory T cells in peripheral blood of children with eosinophilic esophagitis.
50. Congenital Heart Defects in Hirschsprung's Disease: A Survey in Iranian Population.
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