481 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. Inflammatory Muscle Diseases
5. Amyotrophic Lateral Sclerosis
6. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
7. Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients
8. Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy
9. Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort
10. 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
11. Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
12. The connecting link: A case report of the first association of COVID-19 and progressive multifocal leukoencephalopathy
13. Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy
14. Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
15. Cross-sectional area reference values of nerves in the upper and lower extremities using ultrasonography in the Indian population
16. Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform
17. Autoantibody-Based Clinicoradiopathologic Phenotyping of Idiopathic Inflammatory Myopathies: An Indian Cohort.
18. Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
19. Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.
20. GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort.
21. Sensory neuropathy in spinocerebellar ataxia type 14: A novel phenotype
22. Respiratory shoulder synkinesis: A rare case report
23. PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings
24. OPA1 Mutation Presenting as Ethambutol-Induced Optic Neuropathy
25. Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy
26. Unveiling the mystery: Infective endocarditis as an etiological cause of recurrent intracranial hemorrhage
27. Spectral Analysis of Vowels and Fricatives at Varied Levels of Dysarthria Severity for Amyotrophic Lateral Sclerosis
28. Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual
29. A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein
30. 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
31. DYT30 due to VPS16 mutation: An etiology of childhood-onset generalized dystonia
32. Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome
33. Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?
34. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype
35. A rare case of Anti-N-Methyl-D-Aspartate receptor encephalitis in an infant presenting with regression and movement disorder
36. Cerebral Sparganosis -- An Unusual Parasitic Infection Mimicking Cerebral Tuberculosis: Isolation of a Live Plerocercoid Larva of Spirometra mansoni.
37. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant
38. A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient
39. Worm in the Brain: A Case of CNS Gnathostomiasis
40. A short course of tranexamic acid to continue anticoagulation and control bleed in cerebral venous thrombosis with abnormal uterine bleeding and anemia
41. FDG-PET in autoimmune encephalitis: Utility, pattern of abnormalities, and correlation with autoantibodies
42. Retinitis pigmentosa in DJ1- associated early-onset Parkinson's disease: A phenotypic expansion
43. GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics
44. Animacy effects in fluency task performance in early Alzheimer's Disease--A case-control study
45. Lichtenstein-Knorr syndrome: A rare case of ataxia with sensorineural hearing loss
46. Unique genotypic pattern in Indian DPAGT1 congenital myasthenic syndrome patients with two likely founder mutations
47. Rare forms of genetically mediated familial and sporadic amyotrophic lateral sclerosis: An Indian experience
48. Clinico-genetic study on mitochondrial disorders with isolated neuromuscular manifestations in Indian cohort
49. C9ORF72 mutations in a large cohort of ALS patients from India
50. Elsevier - Best clinical paper: CADIIM study: Cardiac and autonomic dysfunction in idiopathic inflammatory myopathies
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