Zobrazeno 1 - 10
of 1 478
pro vyhledávání: '"Veeramani P"'
Autor:
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
Publikováno v:
Global Medical Genetics, Vol 11, Iss 04, Pp 297-303 (2024)
Introduction ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation–contraction of skeletal muscles. Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogress
Externí odkaz:
https://doaj.org/article/cf549a7ea159480b91bed6d9fa940577
Autor:
Manu Santhappan Girija, Deepak Menon, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Madassu Keertipriya, Mainak Bardhan, Priya Treesa Thomas, Valasani Ravi Kiran, Vikas Nishadham, Arun Sadasivan, Akshata Huddar, Gopi Krishnan Unnikrishnan, Ashita Barthur, Atchayaram Nalini
Publikováno v:
Annals of Indian Academy of Neurology, Vol 27, Iss 5, Pp 552-557 (2024)
Background and Objectives: Cardiovascular magnetic resonance imaging (CMRI) is the noninvasive technique of choice for early detection of cardiac involvement in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively), but is seldom used in
Externí odkaz:
https://doaj.org/article/38c2098435744099ac7e752bf86f779b
Autor:
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
Publikováno v:
Global Medical Genetics, Vol 11, Iss 02, Pp 167-174 (2024)
Introduction VMA21-related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India.
Externí odkaz:
https://doaj.org/article/6b926896a46547af87bc6f517017fd4d
Autor:
Harisudan Chandrasekaran, K. Ramesh, Praduman Yadav, Ratnakumar Pasala, Elamathi Sathiah, Pandiyan Indiragandhi, Veeramani Perumal, Sivagamy Kannan, V. Karunakaran, Kathirvelan Perumal, Baskaran Rengasamy, Subrahmaniyan Kasirajan
Publikováno v:
PeerJ, Vol 12, p e17867 (2024)
Background Only scattered information is available on the tillage and nutrient management information for the sesame crop following rice in the literature. Sesame as an edible oil yielding crop with high levels of unsaturated fatty acids has high int
Externí odkaz:
https://doaj.org/article/b9d7010d66b646b3a84eb3c3bc3fb4ae
Autor:
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
Publikováno v:
Annals of Indian Academy of Neurology, Vol 27, Iss 1, Pp 53-57 (2024)
Background: Electrocardiography (ECG) remains an excellent screening tool for cardiac assessment in Duchenne muscular dystrophy (DMD), but an accurate interpretation requires comparison with age-matched healthy controls. Objective: We examined variou
Externí odkaz:
https://doaj.org/article/5b87316a68604fec83954623ac4d4310
Autor:
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
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Sarcoglycanopathy is the most frequent form of autosomal recessive limb-girdle muscular dystrophies caused by mutations in SGCB gene encoding beta-sarcoglycan proteins. In this study, we describe a shared, common haplotype co-segregating in
Externí odkaz:
https://doaj.org/article/0be9b6eff55145b691c2400e75f2a5cd
Autor:
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
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neu
Externí odkaz:
https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce
Autor:
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
Publikováno v:
Neurological Research and Practice, Vol 4, Iss 1, Pp 1-15 (2022)
Abstract Background We sought to determine the utility of PET-MRI in diagnosing Idiopathic Inflammatory Myositis (IIM), and look for association between FDG uptake and clinical, pathological and laboratory parameters. Methods A retrospective, observa
Externí odkaz:
https://doaj.org/article/531cd64caa444118a8920ea438524c65
Autor:
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
Publikováno v:
Global Medical Genetics, Vol 09, Iss 01, Pp 034-041 (2022)
Calpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are
Externí odkaz:
https://doaj.org/article/75ac141fc6ea457c8322411f21a69471
Autor:
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
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 1, Pp 106-113 (2022)
Background: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to desc
Externí odkaz:
https://doaj.org/article/5d749b61d0244865808cf0773e31245c