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Expanding the Phenotypic Spectrum of <i>ECEL1</i>-Associated Distal Arthrogryposis by Akshata Huddar, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Gopikrishnan Unnikrishnan, Saraswati Nashi, Seena Vengalil, Priyanka Priyadarshini, Karthik Kulanthaivelu, Gautham Arunachal, Hanns Lochmüller, Atchayaram Nalini
Published 2021-10-01
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Identification of a Novel Intronic Mutation in <i>VMA21</i> Associated with a Classical Form of X-Linked Myopathy with Autophagy by 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
Published 2024-06-01
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Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy by Shamita Sanga, Sudipta Chakraborty, Mainak Bardhan, Kiran Polavarapu, Veeramani Preethish Kumar, Chandrika Bhattacharya, Saraswati Nashi, Seena Vengalil, Thenral S. Geetha, Vedam Ramprasad, Atchayaram Nalini, Analabha Basu, Moulinath Acharya
Published 2023-09-01
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Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy by 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
Published 2024-12-01
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PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings by Manu Santhappan Girija, Ravindu Tiwari, Seena Vengalil, Saraswati Nashi, Veeramani Preethish-Kumar, Kiran Polavarapu, Karthik Kulanthaivelu, Arpana Arbind, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Valasani Ravi Kiran, Tanushree Chawla, Bevinahalli Nandeesh, Chandana Nagaraj, Atchayaram Nalini
Published 2022-10-01
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Cardiac MRI in Duchenne and Becker Muscular Dystrophy by Manu Santhappan Girija, Deepak Menon, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Madassu Keertipriya, Mainak Bardhan, Priya Treesa Thomas, Valasani Ravi Kiran, Vikas Nishadham, Arun Sadasivan, Akshata Huddar, Gopi Krishnan Unnikrishnan, Ashita Barthur, Atchayaram Nalini
Published 2024-10-01
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Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India by Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini
Published 2022-03-01
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Qualitative and quantitative electrocardiogram parameters in a large cohort of children with duchenne muscle dystrophy in comparison with age-matched healthy subjects: A study from... by Manu S Girija, Deepak Menon, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Madassu Keertipriya, Mainak Bardhan, Priya T Thomas, Valasani R Kiran, Vikas Nishadham, Arun Sadasivan, Akshata Huddar, Gopi K Unnikrishnan, Ganagarajan Inbaraj, Arjun Krishnamurthy, Boris W Kramer, Talakad N Sathyaprabha, Atchayaram Nalini
Published 2024-01-01
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease by Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Published 2023-02-01
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