Search Results - "Dastur, Rashna S"

Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene by Khadilkar, Satish V, Chaudhari, Chetan R, Dastur, Rashna S, Gaitonde, Pradnya S, Yadav, Jayendra G

“…Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation…”
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Early and consistent pattern of proximal weakness in GNE myopathy by Khadilkar, Satish V., Chaudhari, Amit D., Singla, Madhu B., Dastur, Rashna S., Gaitonde, Pradnya S., Bhutada, Ashish G., Hegde, Madhuri R.

“…Background GNE myopathy is widely regarded as a distal myopathy. Involvement of proximal musculature in this condition has not been systematically studied…”
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Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients by Dastur Rashna S, Gaitonde Pradnya S, Khadilkar Satish V, Udani Vrajesh P, Nadkarni Jayshree J

“…Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord…”
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Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification by Dastur, Rashna S, Kachwala, Munira Y, Khadilkar, Satish V, Hegde, Madhuri R, Gaitonde, Pradnya S

“…The technique of multiplex ligation-dependent probe amplification (MLPA) assay is an advanced technique to identify deletions and duplications of all the 79…”
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Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns by Dastur, Rashna S, Gaitonde, Pradnya S, Khadilkar, Satish V, Nadkarni, Jayshree J

“…Background: Becker muscular dystrophy (BMD) is caused by mutations in the dystrophin gene with variable phenotypes. Becker muscular dystrophy patients have low…”
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Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation by Nadkarni, Jayshree J, Dastur, Rashna S, Viswanathan, V, Gaitonde, Pradnya S, Khadilkar, Satish V

“…The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families…”
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