Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome
Chakrabarty, Sanjiban, Govindaraj, Periyasamy, Sankaran, Bindu Parayil, Nagappa, Madhu, Kabekkodu, Shama Prasada, Jayaram, Pradyumna, Mallya, Sandeep, Deepha, Sekar, Ponmalar, J. N. Jessiena, Arivinda, Hanumanthapura R., Meena, Angamuthu Kanikannan, Jha, Rajan Kumar, Sinha, Sanjib, Gayathri, Narayanappa, Taly, Arun B., Thangaraj, Kumarasamy, Satyamoorthy, Kapaettu
Published in Journal of neurology (01.06.2021)
Published in Journal of neurology (01.06.2021)
Get full text
Journal Article
Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform
Preethish-Kumar, Veeramani, Shah, Apurva, Polavarapu, Kiran, Kumar, Manoj, Safai, Apoorva, Vengalil, Seena, Nashi, Saraswati, Deepha, Sekar, Govindaraj, Periyasamy, Afsar, Mohammad, Rajeswaran, Jamuna, Nalini, Atchayaram, Saini, Jitender, Ingalhalikar, Madhura
Published in Journal of neurology (01.04.2022)
Published in Journal of neurology (01.04.2022)
Get full text
Journal Article
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India
Deepha, Sekar, Govindaraj, Periyasamy, Sankaran, Bindu Parayil, Chiplunkar, Shwetha, Kashinkunti, Chetan, Nunia, Vandana, Nagappa, Madhu, Sinha, Sanjib, Khanna, Tripti, Thangaraj, Kumarasamy, Taly, Arun B., Gayathri, Narayanappa
Published in Journal of molecular neuroscience (01.11.2021)
Published in Journal of molecular neuroscience (01.11.2021)
Get full text
Journal Article
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort
Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Mahadevappa, Manjunath, Sekar, Deepha, Purushottam, Meera, Thomas, Priya Treesa, Nashi, Saraswathi, Nalini, Atchayaram
Published in Journal of clinical neurology (Seoul, Korea) (01.01.2017)
Published in Journal of clinical neurology (Seoul, Korea) (01.01.2017)
Get full text
Journal Article
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
Deepha, Sekar, Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Nalini, Atchayaram, Gayathri, Narayanappa, Purushottam, Meera
Published in BMC medical genetics (13.06.2017)
Published in BMC medical genetics (13.06.2017)
Get full text
Journal Article
Utility of immunohistochemistry and western blot in profiling clinically suspected cases of congenital muscular dystrophy
Mhatre, Radhika, Sekar, Deepha, Ponmalar, Jessiena, Nagappa, Madhu, Veeramani, Preethish-Kumar, Polavarapu, Kiran, Vengalil, Seena, Atchayaram, Nalini, Narayanappa, Gayathri
Published in Annals of the Indian Academy of Neurology (01.03.2021)
Published in Annals of the Indian Academy of Neurology (01.03.2021)
Get full text
Journal Article
Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern
Polavarapu, Kiran, Manjunath, Mahadevappa, Preethish-Kumar, Veeramani, Sekar, Deepha, Vengalil, Seena, Thomas, PriyaTreesa, Sathyaprabha, Talakad N, Bharath, Rose Dawn, Nalini, Atchayaram
Published in Neuromuscular disorders : NMD (01.11.2016)
Published in Neuromuscular disorders : NMD (01.11.2016)
Get full text
Journal Article
Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome
Sathe, Gajanan, Deepha, Sekar, Gayathri, Narayanappa, Nagappa, Madhu, Parayil Sankaran, Bindu, Taly, Arun B., Khanna, Tripti, Pandey, Akhilesh, Govindaraj, Periyasamy
Published in Mitochondrion (01.05.2021)
Published in Mitochondrion (01.05.2021)
Get full text
Journal Article
Child Neurology: Ethylmalonic encephalopathy
Govindaraj, Periyasamy, Parayil Sankaran, Bindu, Nagappa, Madhu, Arvinda, Hanumanthapura R, Deepha, Sekar, Jessiena Ponmalar, J N, Sinha, Sanjib, Gayathri, Narayanappa, Taly, Arun B
Published in Neurology (24.03.2020)
Published in Neurology (24.03.2020)
Get more information
Journal Article
Serum fibroblast growth factor 21 and growth differentiation factor 15: Two sensitive biomarkers in the diagnosis of mitochondrial disorders
Huddar, Akshata, Govindaraj, Periyasamy, Chiplunkar, Shwetha, Deepha, Sekar, Jessiena Ponmalar, J.N., Philip, Mariyamma, Nagappa, Madhu, Narayanappa, Gayathri, Mahadevan, Anita, Sinha, Sanjib, Taly, Arun B., Parayil Sankaran, Bindu
Published in Mitochondrion (01.09.2021)
Published in Mitochondrion (01.09.2021)
Get full text
Journal Article
Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort
Polavarapu, Kiran, Preethish-Kumar, Veeramani, Sekar, Deepha, Vengalil, Seena, Nashi, Saraswati, Mahajan, Niranjan P., Thomas, Priya Treesa, Sadasivan, Arun, Warrier, Manjusha, Gupta, Anupam, Arunachal, Gautham, Debnath, Monojit, Keerthipriya, Muddasu Suhasini, Pradeep-Chandra-Reddy, Chevula, Puttegowda, Arpitha, John, Anu P., Tavvala, Ajitha, Gunasekaran, Swetha, Sathyaprabha, Talakad N., Chandra, Sadanandavalli Retnaswami, Kramer, Boris, Delhaas, Tammo, Nalini, Atchayaram
Published in Journal of neurology (01.09.2019)
Published in Journal of neurology (01.09.2019)
Get full text
Journal Article
Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India
Singh, Ravinder-Jeet, Manjunath, Mahadevappa, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Vengalil, Seena, Thomas, Priya, Thennarasu, Kandavel, Gayathri, Narayanappa, Sekar, Deepha, Nashi, Saraswati, Nalini, Atchayaram
Published in Neurology India (01.01.2018)
Published in Neurology India (01.01.2018)
Get full text
Journal Article
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy
Inbaraj, Ganagarajan, Arjun, Krishnamurthy, Meghana, Adoor, Preethish-Kumar, Veeramani, John, Anu P, Polavarapu, Kiran, Nashi, Saraswati, Sekar, Deepha, Udupa, Kaviraja, Prathuysha, Parthipulli V., Prasad, Krishna, Bardhan, Mainak, Raju, Trichur R., Kramer, Boris W., Nalini, Atchayaram, Sathyaprabha, Talakad N.
Published in Journal of neuromuscular diseases (01.01.2023)
Published in Journal of neuromuscular diseases (01.01.2023)
Get full text
Journal Article