Hasil Pencarian - Veeramani Preethish Kumar
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MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India oleh Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri, Meera Purushottam
Diterbitkan 2017-06-01
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Expanding the Phenotypic Spectrum of <i>ECEL1</i>-Associated Distal Arthrogryposis oleh 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
Diterbitkan 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 oleh 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
Diterbitkan 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 oleh 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
Diterbitkan 2023-09-01
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Mutation spectrum of primary lipid storage myopathies oleh Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, Gautham Arunachal, Tanushree Chawla, Mainak Bardhan, Dhaarini Mohan, Rita Christopher, Nandeesh Bevinahalli, Karthik Kulanthaivelu, Ichizo Nishino, Mohammad Faruq, Atchayaram Nalini
Diterbitkan 2022-01-01
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Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy oleh 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
Diterbitkan 2024-12-01
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PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings oleh 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
Diterbitkan 2022-10-01
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Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India oleh 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
Diterbitkan 2022-03-01
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Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation oleh Anu Mary Varghese, Mausam Ghosh, Savita Kumari Bhagat, K. Vijayalakshmi, Veeramani Preethish-Kumar, Seena Vengalil, Pradeep-Chandra-Reddy Chevula, Saraswati Nashi, Kiran Polavarapu, Meenakshi Sharma, Rupinder Singh Dhaliwal, Mariamma Philip, Atchayaram Nalini, Phalguni Anand Alladi, Talakad N. Sathyaprabha, Trichur R. Raju
Diterbitkan 2020-08-01
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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... oleh 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
Diterbitkan 2024-01-01
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease oleh 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
Diterbitkan 2023-02-01
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