Search Results - "Dastur, Rashna"

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients by Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Tanner, Alice, Ankala, Arunkanth, Schneider, Thomas, da Silva, Cristina, Beadling, Randall, Alexander, John J., Askree, Syed Hussain, Whitt, Zachary, Bean, Lora, Collins, Christin, Khadilkar, Satish, Gaitonde, Pradnya, Dastur, Rashna, Wicklund, Matthew, Mozaffar, Tahseen, Harms, Matthew, Rufibach, Laura, Mittal, Plavi, Hegde, Madhuri

“…Objective Limb‐girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal‐muscle…”
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Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent by Chakravorty, Samya, Nallamilli, Babi Ramesh Reddy, Khadilkar, Satish Vasant, Singla, Madhu Bala, Bhutada, Ashish, Dastur, Rashna, Gaitonde, Pradnya Satish, Rufibach, Laura E, Gloster, Logan, Hegde, Madhuri

“…Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of…”
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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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Congenital myasthenic syndromes: A study of 15 cases by Khadilkar, Satish V., Oza, Harsh, Dhonde, Pramod, Patel, Bhagyadhan, Singla, Madhu bala, Patel, Riddhi, Dastur, Rashna, Gaitode, Pradnya, Halani, Hiral, Mansukhani, Khushnuma, Dhonde, Mayura

“…Background Congenital myasthenic syndromes (CMS) are rare inherited heterogeneous disorders of neuromuscular transmission. Aims and methodology This study aims…”
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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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Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis by Dastur, Rashna Sam, Gaitonde, Pradnya Satish, Kachwala, Munira, Nallamilli, Babi R R, Ankala, Arunkanth, Khadilkar, Satish V, Atchayaram, Nalini, Gayathri, N, Meena, A K, Rufibach, Laura, Shira, Sarah, Hegde, Madhuri

“…Limb-girdle muscular dystrophy (LGMD) is the most common adult-onset class of muscular dystrophies in India, but a majority of suspected LGMDs in India remain…”
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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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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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Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective by Ankala, Arunkanth, Kohn, Jordan N., Dastur, Rashna, Gaitonde, Pradnya, Khadilkar, Satish V., Hegde, Madhuri R.

“…ABSTRACT Introduction Clinical heterogeneity of limb‐girdle muscular dystrophies (LGMDs, 24 known subtypes), which includes overlapping phenotypes and varying…”
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