Resultados da pesquisa - Vykuntaraju K. Gowda

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  1. 1
    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn

    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn Por Stéphanie Efthymiou, Luiz Eduardo Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz Felipe Rocha Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Hélio Afonso Ghizoni Teive, Henry Houlden

    Publicado em 2023
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  2. 2
    Microbiological Investigations for Chikungunya Virus in Children With Acute Encephalitis Syndrome in a Non‐Outbreak Setting in Southern India

    Microbiological Investigations for Chikungunya Virus in Children With Acute Encephalitis Syndrome in a Non‐Outbreak Setting in Southern India Por Tina Damodar, Chitra Pattabiraman, Bhagteshwar Singh, María José, Namratha Prabhu, L. Akhila, Pramada Prasad, Uddhava V. Kinhal, A. V. Lalitha, Fulton Sebastian Dsouza, Sushma Veeranna Sajjan, Vykuntaraju K. Gowda, Vasanthapuram Ravi, Ruwanthi Kolamunnage‐Dona, Benedict Michael, Tom Solomon, Ravi Yadav, Lance Turtle

    Publicado em 2025
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  3. 3
    Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

    Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India Por Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Shilpa Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

    Publicado em 2023
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  4. 4
    <i>HPDL</i> Variant Type Correlates With Clinical Disease Onset and Severity

    <i>HPDL</i> Variant Type Correlates With Clinical Disease Onset and Severity Por Eun Hye Lee, Olivia Kim McManus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Y. Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stanley Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Linda R. Friedman, Naomi Meave Ojeda, Joseph G. Gleeson

    Publicado em 2025
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  5. 5
    KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

    KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases Por Felippe Borlot, Ahmed Abushama, Nadine Morrison‐Levy, Puneet Jain, Kollencheri Puthenveettil Vinayan, Musaad Abukhalid, Hesham Aldhalaan, Hanin S. Almuzaini, Sheffali Gulati, Tova Hershkovitz, Ramesh Konanki, Lokesh Lingappa, Aimée F. Luat, Shatha Shafi, Brahim Tabarki, Maya Thomas, Sangeetha Yoganathan, Majid Alfadhel, Ravindra Arya, Elizabeth Donner, Salleh N. Ehaideb, Vykuntaraju K. Gowda, Vivek Jain, Priyanka Madaan, Kenneth A. Myers, Hiroshi Otsubo, Prateek Kumar Panda, Jitendra Kumar Sahu, Leticia P. B Sampaio, Suvasini Sharma, Elisabeth Simard‐Tremblay, Maria Zak, Robyn Whitney

    Publicado em 2020
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  6. 6
    Epidemiology of Congenital Rubella Syndrome (CRS) in India, 2016-18, based on data from sentinel surveillance

    Epidemiology of Congenital Rubella Syndrome (CRS) in India, 2016-18, based on data from sentinel surveillance Por Manoj Murhekar, Sanjay Verma, Kuldeep Singh, Ashish Bavdekar, Naveen Benakappa, Sridhar Santhanam, Gajanan Sapkal, Rajlakshmi Viswanathan, Mini P. Singh, Vijaya Lakshmi Nag, Sadanand Naik, Ashok Munivenkatappa, Asha Mary Abraham, Devika Shanmugasundaram, R. Sabarinathan, Valsan Philip Verghese, Suji George, Ravinder Kaur Sachdeva, Jyoti Kolekar, S. Manasa, Jagat Ram, Madhu Gupta, Manoj Kumar Rohit, Praveen Kumar, Parul Chawla Gupta, Radha Kanta Ratho, Sanjay Munjal, Urvashi Nehra, Daisy Khera, Neeraj Gupta, Nidhi Kaushal, Pratibha Singh, Ravisekhar Gadepalli, Neelam Vaid, Sandeep Kadam, Sanjay Shah, S Mahantesh, Vykuntaraju K. Gowda, Pradeep Haldar, Mahesh Kumar Aggarwal, Nivedita Gupta

    Publicado em 2020
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  7. 7
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy Por Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Publicado em 2022
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  8. 8
    A multifaceted intervention to improve diagnosis and early management of hospitalised patients with suspected acute brain infections in Brazil, India, and Malawi: an international multicentre intervention study

    A multifaceted intervention to improve diagnosis and early management of hospitalised patients with suspected acute brain infections in Brazil, India, and Malawi: an international... Por Bhagteshwar Singh, Gareth Lipunga, Premkumar Thangavelu, Shalley Dhar, Lorena Ferreira Cronemberger, Kundavaram Paul Prabhakar Abhilash, Asha Mary Abraham, Carlos Alexandre Antunes de Brito, Maria Lúcia Brito Ferreira, Nagarathna Chandrashekar, Rui O. Duarte, Anna Fajardo Modol, Ben Chirag Ghale, Gagandeep Kang, Vykuntaraju K. Gowda, Kevin Kuriakose, Suzannah Lant, Macpherson Mallewa, Emmie Mbale, Shona C. Moore, Gloria Mwangalika, Prasanna B T Kamath, Patricia Navvuga, Alinane Linda Nyondo‐Mipando, T. Phiri, Camila Pimentel, Pradeep Banandur, Rebecca Rawlinson, Irene Sheha, Priya Treesa Thomas, Charles R. Newton, Patrícia Carvalho de Sequeira, James J. Sejvar, Tarun Dua, Lance Turtle, Valsan Philip Verghese, Luciano Wagner de Melo Santiago Arraes, Nicola Desmond, Ava Easton, J. A. JONES, Richard Lilford, M. Netravathi, Fiona McGill, Benedict Michael, Victor Mwapasa, Michael J. Griffiths, Christopher M. Parry, Vasanthapuram Ravi, Girvan Burnside, Jennifer Cornick, Rafael Freitas de Oliveira França, Anita Desai, Priscilla Rupali, Tom Solomon

    Publicado em 2025
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  9. 9
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals Por Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gülsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yılmaz, Seda Kanmaz, Hepsen Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhaş, Tamison Jewett, Rachel Goldberg, Hanan E. Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gözde Yeşil, Esma Şengenç, Serhat Güler, Mariam Hull, Mered Parnes, Dilek Aktaş, Banu Anlar, Yavuz Bayram, Davut Pehli̇van, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama AlAbdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André EX Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

    Publicado em 2022
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  10. 10
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Por Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martı́nez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    Publicado em 2023
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  11. 11
    Acute flaccid myelitis: cause, diagnosis, and management

    Acute flaccid myelitis: cause, diagnosis, and management Por Olwen C. Murphy, Kevin Messacar, Lina Benson, Riley Bove, Jessica L. Carpenter, Thomas O. Crawford, Janet Dean, Roberta L. DeBiasi, Jay Desai, Matthew J. Elrick, Raquel Farias‐Moeller, Grace Gombolay, Benjamin Greenberg, Matthew Harmelink, Sue J. Hong, Sarah Hopkins, Joyce Oleszek, Catherine Otten, Cristina Sadowsky, Teri Schreiner, Kiran T. Thakur, Keith Van Haren, Carolina Carballo, Pin Fee Chong, Amary Fall, Vykuntaraju K. Gowda, Jelte Helfferich, Ryutaro Kira, Ming Lim, Eduardo López, Elizabeth Wells, E. Ann Yeh, Carlos A. Pardo, Andrea Salazar-Camelo, Divakar S. Mithal, Molly Wilson-Murphy, Andrea Bauer, Colyn J. Watkins, Mark J. Abzug, Samuel R. Dominguez, Craig A. Press, Michele Yang, Nusrat Ahsan, Leigh Ramos‐Platt, Emmanuelle Tiongson, Mitchel Seruya, Ann Tilton, Elana Katz, Matthew P. Kirschen, Apurva Shah, Erlinda R. Ulloa, Sabrina W. Yum, Lileth Mondok, Megan Blaufuss, Amy Rosenfeld, Wendy Vargas, Jason Zucker, Anusha K. Yeshokumar, Allison Navis, Kristen Chao, Kaitlin Hagen, Michelle Melicosta, Courtney Porter, Margaret A. Tunney, Richard H. Scheuermann, Priya Duggal, Andrew Pekosz, Amy J. Bayliss, Meghan Moore, Allan J. Belzberg, Melania M. Bembea, C. J. M. O’Brien, Rebecca Riggs, Jessica Nance, Aaron M. Milstone, Jessica L. Rice, Maria A. García‐Dominguez, Eoin P. Flanagan, Jan‐Mendelt Tillema, Glendaliz Bosques, Sonal Bhatia, Eliza Gordon‐Lipkin, Dawn Deike, Gadi Revivo, Dan A. Zlotolow, Gabrielle deFiebre, Peggy Lazerow, Timothy Lotze, Ari Bitnun, Kristen M. Davidge, Jiri Vajsar, Amy M. Moore, Chamindra G. Konersman, Kendall Nash, Jonathan B. Strober, Nalin Gupta, Charles Y. Chiu, Michael Sweeney, William T. Jackson, Dennis Simon

    Publicado em 2020
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  12. 12
    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders Por Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Domínguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel‐Hamid, Heba Morsy, Frédéric Tran Mau‐Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal Waill Saadi, Zahra Firoozfar, Pınar Gençpinar, Bülent Ünay, Canan Ustun, Ange‐Line Bruel, Christine Coubes, Jennifer Stefanich, Özlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y. Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Nejad-Rashidi, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole Bertsch, Grace Noh, John Pappas, E Morán, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E.L.M. Vissers, Maedeh Neshatdoust, Mostafa Zohour Montazer, Elmostafa El Fahime, Christin Canavati, Lara Kamal, Moien Kanaan, Omar Askander, V. Yu. Voinova, Olga Levchenko, Shahzhad Haider, Sara Halbach, Elias Rayana Maia, Mansoor Salehi, Jain Vivek, Sanjukta Tawde, Viveka Santhosh Reddy Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Ei-Awady, Adélia Maria de Miranda Henriques‐Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor‐Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, João Paulo Kitajima, Fabíola Paoli Monteiro, Juliana Alves Josahkian, Gaétan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup

    Publicado em 2024
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