Identification of a Novel Intronic Mutation in <i>VMA21</i> Associated with a Classical Form of X-Linked Myopathy with Autophagy por Mainak Bardhan, Kiran Polavarapu, Dipti Baskar, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Valakunja H. Ganaraja, Dinesh Sharma, Karthik Kulanthaivelu, B.N. Nandeesh, Atchayaram Nalini

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Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy por Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Gautham Arunachal, Ramya Sukrutha, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Girish Baburao Kulkarni, Yasha T. Chickabasaviah, Rashmi Santhosh Kumar, Atchayaram Nalini, Saraswati Nashi

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Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum por Dipti Baskar, Rita Christopher, Gautham Arunachal, Davuluri Durga Srinivas Anudeep, Ambati Mounika, TA Sangeeth, Kiran Polavarapu, BS Shalini, Tarachand Joshi, Sai Bhargava Sanka, Saraswati Nashi, Pritam Raja, Ravindranadh Mundlamuri Chowdary, Ravi Yadav, Atchayaram Nalini, Seena Vengalil

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Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing T... por Emma Rybalka, Hyung Jun Park, Atchayaram Nalini, Dipti Baskar, Kiran Polavarapu, Hacer Durmus, Yang Xia, Linlin Wan, Perry B. Shieh, Behzad Moghadaszadeh, Alan H. Beggs, David L. Mack, Alec S. T. Smith, Wendy Hanna-Rose, Hyder A. Jinnah, Cara A. Timpani, Min Shen, Jaymin Upadhyay, Jeffrey J. Brault, Matthew D. Hall, Naveen Baweja, Priyanka Kakkar

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