Childhood-onset generalized dystonia due to NDUFA9 gene mutation: An expansion of mutations causing leigh's syndrome

Autor: Raviprakash Singh, Hansashree Padmanabha, Gautam Arunachal, Pooja Mailankody, Rohan R Mahale

Publikováno v: Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 606-608 (2023)

Externí odkaz: https://doaj.org/article/24fc31aa35114de9879214cbcf9bdd8a

Spastic paraplegia type 8: A first report from India

Autor: Rohan Mahale, Gautam Arunachal, Anudeep Davuluri, Hansashree Padmanabha, Pooja Mailankody

Publikováno v: Annals of Indian Academy of Neurology, Vol 26, Iss 2, Pp 189-190 (2023)

Externí odkaz: https://doaj.org/article/0c1154bc87604b2bae1acf7dfa71f7eb

SARS-CoV-2 B.1.617.2 Delta variant replication and immune evasion

Autor: Mlcochova, Petra, Kemp, Steven A., Dhar, Mahesh Shanker, Papa, Guido, Meng, Bo, Ferreira, Isabella A. T. M., Datir, Rawlings, Collier, Dami A., Albecka, Anna, Singh, Sujeet, Pandey, Rajesh, Brown, Jonathan, Zhou, Jie, Goonawardane, Niluka, Mishra, Swapnil, Whittaker, Charles, Mellan, Thomas, Marwal, Robin, Datta, Meena, Sengupta, Shantanu, Ponnusamy, Kalaiarasan, Radhakrishnan, Venkatraman Srinivasan, Abdullahi, Adam, Charles, Oscar, Chattopadhyay, Partha, Devi, Priti, Caputo, Daniela, Peacock, Tom, Wattal, Chand, Goel, Neeraj, Satwik, Ambrish, Vaishya, Raju, Agarwal, Meenakshi, Chauhan, Himanshu, Dikid, Tanzin, Gogia, Hema, Lall, Hemlata, Verma, Kaptan, Singh, Manoj K., Soni, Namita, Meena, Namonarayan, Madan, Preeti, Singh, Priyanka, Sharma, Ramesh, Sharma, Rajeev, Kabra, Sandhya, Kumar, Sattender, Kumari, Swati, Sharma, Uma, Chaudhary, Urmila, Sivasubbu, Sridhar, Scaria, Vinod, Oberoi, J. K., Raveendran, Reena, Datta, S., Das, Saumitra, Maitra, Arindam, Chinnaswamy, Sreedhar, Biswas, Nidhan Kumar, Parida, Ajay, Raghav, Sunil K., Prasad, Punit, Sarin, Apurva, Mayor, Satyajit, Ramakrishnan, Uma, Palakodeti, Dasaradhi, Seshasayee, Aswin Sai Narain, Thangaraj, K., Bashyam, Murali Dharan, Dalal, Ashwin, Bhat, Manoj, Shouche, Yogesh, Pillai, Ajay, Abraham, Priya, Potdar, Varsha Atul, Cherian, Sarah S., Desai, Anita Sudhir, Pattabiraman, Chitra, Manjunatha, M. V., Mani, Reeta S., Udupi, Gautam Arunachal, Nandicoori, Vinay, Tallapaka, Karthik Bharadwaj, Sowpati, Divya Tej, Kawabata, Ryoko, Morizako, Nanami, Sadamasu, Kenji, Asakura, Hiroyuki, Nagashima, Mami, Yoshimura, Kazuhisa, Ito, Jumpei, Kimura, Izumi, Uriu, Keiya, Kosugi, Yusuke, Suganami, Mai, Oide, Akiko, Yokoyama, Miyabishara, Chiba, Mika, Saito, Akatsuki, Butlertanaka, Erika P., Tanaka, Yuri L., Ikeda, Terumasa, Motozono, Chihiro, Nasser, Hesham, Shimizu, Ryo, Yuan, Yue, Kitazato, Kazuko, Hasebe, Haruyo, Nakagawa, So, Wu, Jiaqi, Takahashi, Miyoko, Fukuhara, Takasuke, Shimizu, Kenta, Tsushima, Kana, Kubo, Haruko, Shirakawa, Kotaro, Kazuma, Yasuhiro, Nomura, Ryosuke, Horisawa, Yoshihito, Takaori-Kondo, Akifumi, Tokunaga, Kenzo, Ozono, Seiya, Baker, Stephen, Dougan, Gordon, Hess, Christoph, Kingston, Nathalie, Lehner, Paul J., Lyons, Paul A., Matheson, Nicholas J., Owehand, Willem H., Saunders, Caroline, Summers, Charlotte, Thaventhiran, James E. D., Toshner, Mark, Weekes, Michael P., Maxwell, Patrick, Shaw, Ashley, Bucke, Ashlea, Calder, Jo, Canna, Laura, Domingo, Jason, Elmer, Anne, Fuller, Stewart, Harris, Julie, Hewitt, Sarah, Kennet, Jane, Jose, Sherly, Kourampa, Jenny, Meadows, Anne, O'Brien, Criona, Price, Jane, Publico, Cherry, Rastall, Rebecca, Ribeiro, Carla, Rowlands, Jane, Ruffolo, Valentina, Tordesillas, Hugo, Bullman, Ben, Dunmore, Benjamin J., Fawke, Stuart, Graf, Stefan, Hodgson, Josh, Huang, Christopher, Hunter, Kelvin, Jones, Emma, Legchenko, Ekaterina, Matara, Cecilia, Martin, Jennifer, Mescia, Federica, O'Donnell, Ciara, Pointon, Linda, Pond, Nicole, Shih, Joy, Sutcliffe, Rachel, Tilly, Tobias, Treacy, Carmen, Tong, Zhen, Wood, Jennifer, Wylot, Marta, Bergamaschi, Laura, Betancourt, Ariana, Bower, Georgie, Cossetti, Chiara, De Sa, Aloka, Epping, Madeline, Gleadall, Nick, Grenfell, Richard, Hinch, Andrew, Huhn, Oisin, Jackson, Sarah, Jarvis, Isobel, Krishna, Ben, Lewis, Daniel, Marsden, Joe, Nice, Francesca, Okecha, Georgina, Omarjee, Ommar, Perera, Marianne, Potts, Martin, Richoz, Nathan, Romashova, Veronika, Yarkoni, Natalia Savinykh, Sharma, Rahul, Stefanucci, Luca, Stephens, Jonathan, Strezlecki, Mateusz, Turner, Lori, De Bie, Eckart M. D. D., Bunclark, Katherine, Josipovic, Masa, Mackay, Michael, Rossi, Sabrina, Selvan, Mayurun, Spencer, Sarah, Yong, Cissy, Allison, John, Butcher, Helen, Clapham-Riley, Debbie, Dewhurst, Eleanor, Furlong, Anita, Graves, Barbara, Gray, Jennifer, Ivers, Tasmin, Kasanicki, Mary, Le Gresley, Emma, Linger, Rachel, Meloy, Sarah, Muldoon, Francesca, Ovington, Nigel, Papadia, Sofia, Phelan, Isabel, Stark, Hannah, Stirrups, Kathleen E., Townsend, Paul, Walker, Neil, Webster, Jennifer, Scholtes, Ingrid, Hein, Sabine, King, Rebecca, Mavousian, Antranik, Lee, Joo Hyeon, Bassi, Jessica, Silacci-Fegni, Chiara, Saliba, Christian, Pinto, Dora, Irie, Takashi, Yoshida, Isao, Hamilton, William L., Sato, Kei, Bhatt, Samir, Flaxman, Seth, James, Leo C., Corti, Davide, Piccoli, Luca, Barclay, Wendy S., Rakshit, Partha, Agrawal, Anurag, Gupta, Ravindra K.

Publikováno v: Mlcochova, P, Kemp, S A, Dhar, M S, Papa, G, Meng, B, Ferreira, I A T M, Datir, R, Collier, D A, Albecka, A, Singh, S, Pandey, R, Brown, J, Zhou, J, Goonawardane, N, Mishra, S, Whittaker, C, Mellan, T, Marwal, R, Datta, M, Sengupta, S, Ponnusamy, K, Radhakrishnan, V S, Abdullahi, A, Charles, O, Chattopadhyay, P, Devi, P, Caputo, D, Peacock, T, Wattal, C, Goel, N, Satwik, A, Vaishya, R, Agarwal, M, Chauhan, H, Chauhan, H, Dikid, T, Gogia, H, Lall, H, Verma, K, Dhar, M S, Singh, M K, Soni, N, Meena, N, Madan, P, Singh, P, Sharma, R, Sharma, R, Kabra, S, Kumar, S, Kumari, S, Sharma, U, Chaudhary, U, Sivasubbu, S, Scaria, V, Oberoi, J K, Raveendran, R, Datta, S, Das, S, Maitra, A, Chinnaswamy, S, Biswas, N K, Parida, A, Raghav, S K, Prasad, P, Sarin, A, Mayor, S, Ramakrishnan, U, Palakodeti, D, Seshasayee, A S N, Thangaraj, K, Bashyam, M D, Dalal, A, Bhat, M, Shouche, Y, Pillai, A, Abraham, P, Potdar, V A, Cherian, S S, Desai, A S, Pattabiraman, C, Manjunatha, M V, Mani, R S, Udupi, G A, Nandicoori, V, Tallapaka, K B, Sowpati, D T, Kawabata, R, Kawabata, R, Morizako, N, Sadamasu, K, Asakura, H, Nagashima, M, Yoshimura, K, Ito, J, Kimura, I, Uriu, K, Kosugi, Y, Suganami, M, Oide, A, Yokoyama, M, Chiba, M, Saito, A, Butlertanaka, E P, Tanaka, Y L, Ikeda, T, Motozono, C, Nasser, H, Shimizu, R, Yuan, Y, Kitazato, K, Hasebe, H, Nakagawa, S, Wu, J, Takahashi, M, Fukuhara, T, Shimizu, K, Tsushima, K, Kubo, H, Shirakawa, K, Kazuma, Y, Nomura, R, Horisawa, Y, Takaori-Kondo, A, Tokunaga, K, Ozono, S, Baker, S, Baker, S, Dougan, G, Hess, C, Kingston, N, Lehner, P J, Lyons, P A, Matheson, N J, Owehand, W H, Saunders, C, Summers, C, Thaventhiran, J E D, Toshner, M, Weekes, M P, Maxwell, P, Shaw, A, Bucke, A, Calder, J, Canna, L, Domingo, J, Elmer, A, Fuller, S, Harris, J, Hewitt, S, Kennet, J, Jose, S, Kourampa, J, Meadows, A, O'Brien, C, Price, J, Publico, C, Rastall, R, Ribeiro, C, Rowlands, J, Ruffolo, V, Tordesillas, H, Bullman, B, Dunmore, B J, Fawke, S, Graf, S, Hodgson, J, Huang, C, Hunter, K, Jones, E, Legchenko, E, Matara, C, Martin, J, Mescia, F, O'Donnell, C, Pointon, L, Pond, N, Shih, J, Sutcliffe, R, Tilly, T, Treacy, C, Tong, Z, Wood, J, Wylot, M, Bergamaschi, L, Betancourt, A, Bower, G, Cossetti, C, De Sa, A, Epping, M, Fawke, S, Gleadall, N, Grenfell, R, Hinch, A, Huhn, O, Jackson, S, Jarvis, I, Krishna, B, Lewis, D, Marsden, J, Nice, F, Okecha, G, Omarjee, O, Perera, M, Potts, M, Richoz, N, Romashova, V, Yarkoni, N S, Sharma, R, Stefanucci, L, Stephens, J, Strezlecki, M, Turner, L, De Bie, E M D D, Bunclark, K, Josipovic, M, Mackay, M, Rossi, S, Selvan, M, Spencer, S, Yong, C, Allison, J, Butcher, H, Caputo, D, Clapham-Riley, D, Dewhurst, E, Furlong, A, Graves, B, Gray, J, Ivers, T, Kasanicki, M, Le Gresley, E, Linger, R, Meloy, S, Muldoon, F, Ovington, N, Papadia, S, Phelan, I, Stark, H, Stirrups, K E, Townsend, P, Walker, N, Webster, J, Scholtes, I, Hein, S, King, R, Mavousian, A, Lee, J H, Bassi, J, Silacci-Fegni, C, Saliba, C, Pinto, D, Irie, T, Yoshida, I, Hamilton, W L, Sato, K, Bhatt, S, Flaxman, S, James, L C, Corti, D, Piccoli, L, Barclay, W S, Rakshit, P, Agrawal, A, Gupta, R K & Mishra, S 2021, ' SARS-CoV-2 B.1.617.2 Delta variant replication and immune evasion ', Nature, vol. 599, pp. 114-119 . https://doi.org/10.1038/s41586-021-03944-y
Nature

The B.1.617.2 (Delta) variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was first identified in the state of Maharashtra in late 2020 and spread throughout India, outcompeting pre-existing lineages including B.1.617.1 (Kappa) an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70d15d086906aa18db47f0ee053650ce
https://doi.org/10.1038/s41586-021-03944-y

Rapidly progressive spastic paraplegia due to hyperhomocysteinemia in child with MTHFR gene mutation and mitochondrial Complex I deficiency: A rare association

Autor: Jennifer Kovoor, Sandhya Alappati, Nibu Varghese, Jyothi Gautam, Pooja Mailankody, Hansashree Padmanabha, RohanR Mahale, Gautam Arunachal, Mathuranath Pavagada

Publikováno v: Journal of Pediatric Neurosciences

MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56fdb3aa46fef1bad5fa4a54088f4ee
https://doi.org/10.4103/jpn.jpn_96_20