Search Results - "Keerthipriya, Muddasu Suhasini"
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Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort
Published in Internal medicine journal (01-03-2024)“…Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. The prevalence of KD is unknown in India. To describe the phenotypic and…”
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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
Published in Journal of neurology (01-09-2019)“…Introduction Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the…”
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GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort
Published in Journal of neuromuscular diseases (2024)“…GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing…”
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Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients
Published in World neurosurgery (01-03-2024)“…Hirayama disease (HD) is a cervical compressive myelopathy. Anterior cervical discectomy and fusion (ACDF) is identified as the best surgical approach. We…”
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