Hasil Pencarian - Kiran Polavarapu

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  1. 1
    MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

    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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  2. 2
    Utility of immunohistochemistry and western blot in profiling clinically suspected cases of congenital muscular dystrophy

    Utility of immunohistochemistry and western blot in profiling clinically suspected cases of congenital muscular dystrophy oleh Radhika Mhatre, Deepha Sekar, Jessiena Ponmalar, Madhu Nagappa, Preethish-Kumar Veeramani, Kiran Polavarapu, Seena Vengalil, Nalini Atchayaram, Gayathri Narayanappa

    Diterbitkan 2021-01-01
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  3. 3
    Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

    Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. oleh Amirtharaj Francis, Balaraju Sunitha, Kandavalli Vinodh, Kiran Polavarapu, Shiva Krishna Katkam, Sailesh Modi, M M Srinivas Bharath, Narayanappa Gayathri, Atchayaram Nalini, Kumarasamy Thangaraj

    Diterbitkan 2014-01-01
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  4. 4
    Expanding the Phenotypic Spectrum of <i>ECEL1</i>-Associated Distal Arthrogryposis

    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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  5. 5
    Identification of a Novel Intronic Mutation in <i>VMA21</i> Associated with a Classical Form of X-Linked Myopathy with Autophagy

    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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  6. 6
    Palliative care needs and care giver burden in neurodegenerative diseases: A cross sectional study

    Palliative care needs and care giver burden in neurodegenerative diseases: A cross sectional study oleh Zacharias Lithin, Priya T Thomas, G Manjusha Warrier, Adhin Bhaskar, Saraswathi Nashi, Seena Vengalil, Kiran Polavarapu, Preethish Kumar, Ravi Yadav, Suvarna Alladi, Nalini Atchayaram, Pramod K Pal

    Diterbitkan 2020-01-01
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  7. 7
    Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

    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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  8. 8
    Mutation spectrum of primary lipid storage myopathies

    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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  9. 9
    Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

    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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  10. 10
    PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings

    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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  11. 11
    Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

    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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  12. 12
    Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation

    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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  13. 13
    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 South India

    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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  14. 14
    HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature

    HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature oleh Masahiro Uemura, Hiroaki Nozaki, Hiroaki Nozaki, Taisuke Kato, Akihide Koyama, Naoko Sakai, Shoichiro Ando, Masato Kanazawa, Nozomi Hishikawa, Yoshinori Nishimoto, Kiran Polavarapu, Atchayaram Nalini, Akira Hanazono, Daisuke Kuzume, Akihiro Shindo, Mohammad El-Ghanem, Arata Abe, Aki Sato, Mari Yoshida, Takeshi Ikeuchi, Ikuko Mizuta, Toshiki Mizuno, Osamu Onodera

    Diterbitkan 2020-07-01
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  15. 15
    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

    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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  16. 16
    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 oleh Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

    Diterbitkan 2023-04-01
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