526 results on '"Nafissi, Shahriar"'
Search Results
2. DOK7 congenital myasthenic syndrome: case series and review of literature
3. A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
4. COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
5. Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
6. Iranian clinical practice guideline for amyotrophic lateral sclerosis.
7. Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
8. The investigation of killer-cell immunoglobulin-like receptors (KIRs) and their HLA ligands in Iranian patients with myasthenia gravis.
9. Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients
10. Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis
11. Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients
12. Adverse drug reactions of Rituximab in patients suffering from autoimmune neurological diseases
13. Clinical features and outcomes of patients with myasthenia gravis affected by COVID-19: A single-center study
14. Disease severity and response to treatment in Iranian patients with myasthenia gravis
15. Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review
16. A New Case of Granulomatosis with Polyangiitis Presented with Tolosa–Hunt Syndrome Manifestations
17. Identification of a mutation in TNRC18 in a patient with clinical features of Fazio‐Londe disease
18. The correlation of the serum level of L-carnitine with disease severity in patients with Amyotrophic lateral sclerosis
19. Application of CMAP scan for the evaluation of patients with chronic inflammatory demyelinating polyneuropathy: a prospective study
20. Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation
21. The role of opening CSF pressure in response to treatment for idiopathic intracranial hypertension (IIH)
22. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
23. Neutral Lipid Storage Disease with Myopathy: Clinicopathological and Genetic Features of Nine Iranian Patients
24. A novel heteroplasmic mutation in mitochondrial tRNAArg gene associated with non-dystrophic myotonias
25. P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders
26. Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran
27. Evaluation of Quality of Life in Patients With Chronic Inflammatory Demyelinating Polyneuropathy in Iran
28. Safety and Efficacy of Nanocurcumin as Add-On Therapy to Riluzole in Patients With Amyotrophic Lateral Sclerosis: A Pilot Randomized Clinical Trial
29. BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes
30. The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy
31. Bi‐allelic loss of function variant in theNRCAMgene is associated with motor‐predominant axonal polyneuropathy; the second report
32. Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene
33. Investigating the Association Between Muscular Ultrasonographic Alterations and Clinical Symptoms in Patients With Inflammatory Myopathy.
34. Identification ofUBA1as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy
35. A retrospective study of the safety and efficacy of rituximab in Iranian patients with myasthenia gravis: A single-center experience
36. Identification ofRNF13as cause of recessively inherited ALS in a multi-case pedigree
37. Sparse representation of brain signals offers effective computation of cortico-muscular coupling value to predict the task-related and non-task sEMG channels: A joint hdEEG-sEMG study
38. Clinical and electrophysiological features of Guillain–Barré syndrome in Iran
39. Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy
40. Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients
41. Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3
42. Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report.
43. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
44. The value of MUNIX as an objective electrophysiological biomarker of disease progression in chronic inflammatory demyelinating polyneuropathy
45. Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants
46. RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder
47. Validation of myasthenia gravis activity of daily living questionnaire: Persian version
48. Comparison of Clinical, Ultrasound, and Electrophysiologic Changes in Chronic Inflammatory Demyelinating Polyneuropathy: A Prospective Study.
49. Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree.
50. The value of MUNIX as an objective electrophysiological biomarker of disease progression in chronic inflammatory demyelinating polyneuropathy
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.