334 results on '"Nashi, Saraswati"'
Search Results
2. Cardiac MRI in Duchenne and Becker Muscular Dystrophy
3. Morvan's Syndrome with Myasthenia Gravis: An Autoimmune or Paraneoplastic Association?
4. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
5. Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients
6. Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy
7. Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort
8. Qualitative and quantitative electrocardiogram parameters in a large cohort of children with duchenne muscle dystrophy in comparison with age-matched healthy subjects: A study from South India
9. Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
10. The connecting link: A case report of the first association of COVID-19 and progressive multifocal leukoencephalopathy
11. Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy
12. Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
13. Cross-sectional area reference values of nerves in the upper and lower extremities using ultrasonography in the Indian population
14. Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform
15. Autoantibody-Based Clinicoradiopathologic Phenotyping of Idiopathic Inflammatory Myopathies: An Indian Cohort.
16. Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
17. GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort.
18. Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.
19. Sensory neuropathy in spinocerebellar ataxia type 14: A novel phenotype
20. Respiratory shoulder synkinesis: A rare case report
21. PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings
22. A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein
23. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients
24. DYT30 due to VPS16 mutation: An etiology of childhood-onset generalized dystonia
25. Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome
26. Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?
27. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype
28. A rare case of Anti-N-Methyl-D-Aspartate receptor encephalitis in an infant presenting with regression and movement disorder
29. Cerebral Sparganosis -- An Unusual Parasitic Infection Mimicking Cerebral Tuberculosis: Isolation of a Live Plerocercoid Larva of Spirometra mansoni.
30. Worm in the Brain: A Case of CNS Gnathostomiasis
31. A short course of tranexamic acid to continue anticoagulation and control bleed in cerebral venous thrombosis with abnormal uterine bleeding and anemia
32. FDG-PET in autoimmune encephalitis: Utility, pattern of abnormalities, and correlation with autoantibodies
33. Retinitis pigmentosa in DJ1- associated early-onset Parkinson's disease: A phenotypic expansion
34. GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics
35. Animacy effects in fluency task performance in early Alzheimer's Disease--A case-control study
36. Lichtenstein-Knorr syndrome: A rare case of ataxia with sensorineural hearing loss
37. OPA1 Mutation Presenting as Ethambutol-Induced Optic Neuropathy.
38. CASPR-2 related morvan’s syndrome: Autonomic, polysomnographic & neuropsychological observations
39. Unveiling the mystery: Infective endocarditis as an etiological cause of recurrent intracranial hemorrhage.
40. Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort
41. A Rare Genetic Cause of Young Onset Rapidly Progressive Dementia- First Report from India
42. A Rare Case of Eosinophilic Myelitis Due to Gnathostomiasis
43. A Rare Case of Neurosyphilis Presenting As Normal Pressure Hydrocephalus Syndrome
44. Mutation spectrum of primary lipid storage myopathies
45. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome
46. Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation
47. Granulomatous amebic encephalitis presenting like a tumor-chasing a diagnostic conundrum
48. Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.
49. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.
50. A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
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