Childhood myocerebrohepatopathy spectrum disorder due to polymerase gamma pathogenic variant by Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Sanjay K Shivappa

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Rare cause of west syndrome secondary to tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) kunze type due to a novel variant in MAPRE2 gene by Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Varsha Reddy, Maya Bhat

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Krabbe Disease with normal enzyme assay with a pathogenic variant in GALC gene—A report of two Indian cases by Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Maya Bhat, Sanjay K Shivappa

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Biotinidase deficiency in the second decade with atypical neuroimaging findings by Vykuntaraju K Gowda, Amit Avaragollapuravarga Mathada, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane

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Chromoblastomycosis associated with bone and central nervous involvement system in an immunocompetent child caused by exophiala spinifera by Sahana M Srinivas, Vykuntaraju K Gowda, S Mahantesh, Rajeshwari Mannapur, Sanjay K Shivappa

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The combined neurogenetic disorders; blended phenotype of Metachromatic Leukodystrophy (MLD) and glutaric aciduria type 1 (GA -1) in an Indian child by Vykuntaraju K Gowda, Viveka Santhosh Reddy, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane

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Canavan Disease: Clinical and laboratory profile from Southern part of India by Vykuntaraju K Gowda, Narmadham K Bharathi, Jamunashree Bettaiah, Maya Bhat, Sanjay K Shivappa

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Mitochondrial complex I deficiency masquerading as stroke-like episode clinically and as alexander disease radiologically following chicken pox by Vykuntaraju K Gowda, Arun Y Bylappa, Uddhav Kinhal, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane

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Association of Scrub Typhus in Children with Acute Encephalitis Syndrome and Meningoencephalitis, Southern India by Tina Damodar, Bhagteshwar Singh, Namratha Prabhu, Srilatha Marate, Vykuntaraju K. Gowda, A.V. Lalitha, Fulton Sebastian Dsouza, Sushma Veeranna Sajjan, Mallesh Kariyappa, Uddhava V. Kinhal, P.V. Prathyusha, Anita Desai, Kandavel Thennarasu, Tom Solomon, Vasanthapuram Ravi, Ravi Yadav

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Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn by Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, Henry Houlden

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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature by Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky

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Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India by Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh 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

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Epidemiology of Congenital Rubella Syndrome (CRS) in India, 2016-18, based on data from sentinel surveillance. by Manoj Murhekar, Sanjay Verma, Kuldeep Singh, Ashish Bavdekar, Naveen Benakappa, Sridhar Santhanam, Gajanan Sapkal, Rajlakshmi Viswanathan, Mini P Singh, Vijaya Lakshmi Nag, Sadanand Naik, Munivenkatappa Ashok, Asha Mary Abraham, Devika Shanmugasundaram, R Sabarinathan, Valsan Philip Verghese, Suji George, Ravinder Kaur Sachdeva, Jyoti Kolekar, S Manasa, Jagat Ram, Madhu Gupta, Manoj K Rohit, Praveen Kumar, Parul Chawla Gupta, R K Ratho, Sanjay Kumar 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, M K Aggarwal, Nivedita Gupta

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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review by Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis by 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-Sánchez, Beatriz Martínez-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. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, 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 Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

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