Search Results - "Sekar, Deepha"

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome by 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

“…Background Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA…”
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Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform by 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

“…Objective Neurocognitive disabilities in Duchenne muscular dystrophy (DMD) children beginning in early childhood and distal DMD gene deletions involving…”
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Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India by 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

“…Polymerase γ catalytic subunit ( POLG ), a nuclear gene, encodes the enzyme responsible for mitochondrial DNA (mtDNA) replication. POLG mutations are a major…”
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Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort by Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Mahadevappa, Manjunath, Sekar, Deepha, Purushottam, Meera, Thomas, Priya Treesa, Nashi, Saraswathi, Nalini, Atchayaram

“…Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA)…”
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MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India by Deepha, Sekar, Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Nalini, Atchayaram, Gayathri, Narayanappa, Purushottam, Meera

“…Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this…”
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Utility of immunohistochemistry and western blot in profiling clinically suspected cases of congenital muscular dystrophy by Mhatre, Radhika, Sekar, Deepha, Ponmalar, Jessiena, Nagappa, Madhu, Veeramani, Preethish-Kumar, Polavarapu, Kiran, Vengalil, Seena, Atchayaram, Nalini, Narayanappa, Gayathri

“…Objective: Immunocharacterization of congenital muscular dystrophy (CMD) to determine the frequency of various subtypes in a large Indian Cohort. Materials and…”
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Diagnosis of primary mitochondrial disorders -Emphasis on myopathological aspects by Gayathri, Narayanappa, Deepha, Sekar, Sharma, Shivani

“…Mitochondrial disorders are one of the most common neurometabolic disorders affecting all age groups. The phenotype-genotype heterogeneity in these disorders…”
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Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review by Kaur, Namanpreet, Somashekar, Puneeth H, Deepha, Sekar, Govindaraj, Periyasamy, Shukla, Anju, Patil, Siddaramappa J

“…Combined oxidative phosphorylation (OXPHOS) deficiency 44 (COXPD44; MIM# 618855) is caused by biallelic pathogenic variants in FAS-activated serine-threonine…”
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Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern by Polavarapu, Kiran, Manjunath, Mahadevappa, Preethish-Kumar, Veeramani, Sekar, Deepha, Vengalil, Seena, Thomas, PriyaTreesa, Sathyaprabha, Talakad N, Bharath, Rose Dawn, Nalini, Atchayaram

“…Highlights • Consistent pattern of muscle involvement on MRI of lower limbs in DMD. • Gluteus medius, minimus and adductor magnus were severely affected at all…”
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Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome by Sathe, Gajanan, Deepha, Sekar, Gayathri, Narayanappa, Nagappa, Madhu, Parayil Sankaran, Bindu, Taly, Arun B., Khanna, Tripti, Pandey, Akhilesh, Govindaraj, Periyasamy

“…•Mitochondrial proteins are differentially expressed in EE patient’s skeletal muscle.•Most of the proteins are down-regulated in the OXPHOS complex IV.•Altered…”
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Child Neurology: Ethylmalonic encephalopathy by Govindaraj, Periyasamy, Parayil Sankaran, Bindu, Nagappa, Madhu, Arvinda, Hanumanthapura R., Deepha, Sekar, Jessiena Ponmalar, J.N., Sinha, Sanjib, Gayathri, Narayanappa, Taly, Arun B.

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Serum fibroblast growth factor 21 and growth differentiation factor 15: Two sensitive biomarkers in the diagnosis of mitochondrial disorders by 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

“…•FGF-21 and GDF-15 were significantly elevated in muscle manifesting mitochondrial disorders.•FGF-21 and GDF-15 levels were higher in patients with…”
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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 by 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

“…Introduction Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the…”
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Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India by Singh, Ravinder-Jeet, Manjunath, Mahadevappa, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Vengalil, Seena, Thomas, Priya, Thennarasu, Kandavel, Gayathri, Narayanappa, Sekar, Deepha, Nashi, Saraswati, Nalini, Atchayaram

“…Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy. There are no large studies describing its natural course from India…”
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Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy by 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

“…Duchenne muscular dystrophy (DMD) is a degenerative X-linked muscle disease. Death frequently results from complications in cardiopulmonary systems…”
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