Childhood Myocerebrohepatopathy Spectrum Disorder due to Polymerase Gamma Pathogenic Variant

por Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Shivappa, Sanjay K.
Publicado 2021

In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population

por Nanjundagowda, Vykuntaraju K, Paikaraya, Swabhiman, Srinivasan, Varunvenkat M, Srivastava, Anshika
Publicado 2023

Macrophagic Myofasciitis: A Report of Two South Indian Infants

por Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Muthane, Yasha, Narayanappa, Gayathri
Publicado 2020

Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene

por Gowda, Vykuntaraju Kammasandra, Nagarajan, Balamurugan, Srinivasan, Varunvenkat M., Bhat, Maya
Publicado 2021

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

por Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Reddy, Varsha, Bhat, Maya
Publicado 2022

Krabbe Disease with Normal Enzyme Assay with a Pathogenic Variant in GALC Gene—A Report of Two Indian Cases

por Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Bhat, Maya, Shivappa, Sanjay K.
Publicado 2021

Familial Global Developmental Delay Secondary to β-Mannosidosis

por Gowda, Vykuntaraju K., Nagarajan, Balamurugan, Suryanarayana, Srividya G., Srinivasan, Varunvenkat M.
Publicado 2021

Treatable Neurodegenerative Disorder: Cerebral Folate Transport Deficiency––Two Children from Southern India

por Gowda, Vykuntaraju K, Natarajan, Balamurugan, Srinivasan, Varunvenkat M, Shivappa, Sanjay K
Publicado 2021

Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings

por Gowda, Vykuntaraju K., Avaragollapuravarga Mathada, Amit, Srinivasan, Varunvenkat M., Vamyanmane, Dhananjaya K.
Publicado 2023

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

por Gowda, Vykuntaraju Kammasandra, Srinivasan, Varunvenkat M, Sardesai, Ashwin V, Shivappa, Sanjay K
Publicado 2021

Mineralizing Angiopathy with Basal Ganglia Stroke after Minor Trauma: Case Series Including Two Familial Cases

por Gowda, Vykuntaraju K., Manjeri, Vidya, Srinivasan, Varunvenkat M., Sajjan, Sushma V., Benakappa, Asha
Publicado 2018

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

por Efthymiou, Stephanie, Novis, Luiz E., Koutsis, Georgios, Koniari, Chrysoula, Maroofian, Reza, Turchetti, Valentina, Velonakis, Georgios, Vasconcellos, Luiz F., Raskin, Salmo, Srinivasan, Varunvenkat M., Pagnamenta, Alistair T., Arun, Yaramanchanahalli B., Kinhal, Uddhava V., Gowda, Vykuntaraju K., Teive, Helio A. G., Houlden, Henry
Publicado 2023

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

por Priestley, Jessica R.C., Pace, Lisa M., Sen, Kuntal, Aggarwal, Anjali, Alves, Cesar Augusto P.F., Campbell, Ian M., Cuddapah, Sanmati R., Engelhardt, Nicole M., Eskandar, Marina, Jolín García, Paloma C., Gropman, Andrea, Helbig, Ingo, Hong, Xinying, Gowda, Vykuntaraju K., Lusk, Laina, Trapane, Pamela, Srinivasan, Varunvenkat M., Suwannarat, Pim, Ganetzky, Rebecca D.
Publicado 2022

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

por Nagarajan, Balamurugan, Gowda, Vykuntaraju K., Yoganathan, Sangeetha, Sharawat, Indar Kumar, Srivastava, Kavita, Vora, Nitish, Badheka, Rahul, Danda, Sumita, Kalane, Umesh, Kaur, Anupriya, Madaan, Priyanka, Mehta, Sanjiv, Negi, Sandeep, Panda, Prateek Kumar, Rajadhyaksha, Surekha, Saini, Arushi Gahlot, Saini, Lokesh, Shah, Siddharth, Srinivasan, Varunvenkat M., Suthar, Renu, Thomas, Maya, Vyas, Sameer, Sankhyan, Naveen, Sahu, Jitendra Kumar
Publicado 2023

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

por Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J., Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Martin Mesa, Carmen, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Consortium, The SOGRI, Nevado, Julián, Lapunzina, Pablo
Publicado 2023

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

por Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Rocca, Clarissa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, O’Driscoll, Mary, Suri, Mohnish, Banka, Siddharth, Clayton-Smith, Jill, Wright, Thomas, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Cogne, Benjamin, Jamra, Rami Abu, Bartolomaeus, Tobias, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Gattermann, Felix, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Magry, Virginie, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Bird-Lieberman, Georgina, Hanna, Michael, Koenig, Michel, Stankewich, Michael, Vandrovcova, Jana, Houlden, Henry
Publicado 2023

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

por van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
Publicado 2022

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023