481 results on '"Nashi, Saraswati"'
Search Results
52. Episodic ataxia in child with 16p11.2 deletion including PRRT2
53. Clinico-radiological comparison between different subgroups of inflammatory myositis
54. Monomelic Amyotrophy / Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients
55. CASPR-2 related morvan’s syndrome: Autonomic, polysomnographic & neuropsychological observations
56. 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
57. A Rare Genetic Cause of Young Onset Rapidly Progressive Dementia- First Report from India
58. A Rare Case of Eosinophilic Myelitis Due to Gnathostomiasis
59. A Rare Case of Neurosyphilis Presenting As Normal Pressure Hydrocephalus Syndrome
60. Mutation spectrum of primary lipid storage myopathies
61. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
62. Atypical Presentation of Tangier Disease—Expanding the Clinical Spectrum
63. Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort
64. Neuromuscular disease genetics in under-represented populations: increasing data diversity
65. MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)
66. Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients
67. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome
68. Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation
69. Granulomatous amebic encephalitis presenting like a tumor-chasing a diagnostic conundrum
70. Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.
71. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
72. WITHDRAWN: Phenotypic heterogeneity in ORAI-1 associated congenital myopathy.
73. Episodic ataxia in child with 16p11.2 deletion including PRRT2
74. Identification of a shared, common haplotype segregating with an SGCB c.544T>G mutation in Indian patients affected with sarcoglycanopathy
75. Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome
76. A novel DHTKD1 gene mutation with ALS like presentation: a case report.
77. C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection
78. Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy
79. Vanishing white matter leukodystrophy due to novel EIF2B4 mutation in an adult female
80. A rare case of Anti-N-Methyl-D-Aspartate receptor encephalitis in an infant presenting with regression and movement disorder
81. Corpus Callosal Hemorrhage: A Rare Presentation of Extensive Cerebral Venous Thrombosis
82. Lived experience of spouses of persons with motor neuron disease: Preliminary findings through interpretative phenomenological analysis
83. Cervical and Ocular Vestibular Evoked Myogenic Potential Recovery in Susac Syndrome: A Case Report
84. Bilateral simultaneous lower motor nerve facial palsy as presenting symptom of cryptococcal meningitis in a non-immunocompromised patient
85. Falcine tuberculoma presenting with chronic headache – A rarity
86. Cranial Polyneuropathy and Polyradiculopathy with Intractable Vomiting due to a Rare Etiology
87. Spontaneous Downbeat Nystagmus in Anti-GAD-Antibody-Associated Paraneoplastic Syndrome
88. CARASIL families from India with 3 novel null mutations in the HTRA1 gene
89. An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings.
90. Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India
91. “Neurognathostomiasis: Varied CNS Manifestations, A Report of Two Cases” (P1-1.Virtual)
92. Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis (P2-5.003)
93. Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients (P1-1.Virtual)
94. ACE-IIM: Evidence of Autonomic and Cardiac dysfunction in Idiopathic Inflammatory Myositis (P1-1.Virtual)
95. Anti-N-Methyl-D-Aspartate Receptor Encephalitis In An Eleven Month Old Child with Atypical Presentation (P1-1.Virtual)
96. An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings
97. Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes
98. Intestinal giardiasis presenting as acute sensory ataxia
99. Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation
100. Lichtenstein–Knorr syndrome: A rare case of ataxia with sensorineural hearing loss
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