Search Results - "Anjanappa, Ram"

Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome by Bardhan, Mainak, Polavarapu, Kiran, Bevinahalli, Nandeesh N, Veeramani, Preethish-Kumar, Anjanappa, Ram Murthy, Arunachal, Gautham, Shingavi, Leena, Vengalil, Seena, Nashi, Saraswati, Chawla, Tanushree, Nagabushana, Divya, Mohan, Dhaarini, Horvath, Rita, Nishino, Ichizo, Atchayaram, Nalini

“…Megaconial congenital muscular dystrophy (CMD)(OMIM #602541), related to CHKB mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed…”
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A linkage and exome study implicates rare variants of KANK4 and CAP2 in bipolar disorder in a multiplex family by Anjanappa, Ram M., Nayak, Sourav, Moily, Nagaraj S., Manduva, Vallikiran, Nadella, Ravi K., Viswanath, Biju, Reddy, Yemmiganur C. J., Jain, Sanjeev, Anand, Anuranjan

“…Objectives Bipolar disorder (BD) is a neuropsychiatric disorder with a complex pattern of inheritance. Although many genetic studies have been conducted on BD,…”
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Genetic analysis of a family from India with Machado-Joseph disease by Anjanappa, Ram, Jain, Sanjeev, Wali, Gurusidheshwar, Purushottam, Meera

“…{Figure 1} The CAG repeat fragment of ATXN3 was amplified by polymerase chain reaction followed by sizing on a ABI 3500XL DNA analyzer (ThermoFisher Scientific…”
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Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome by Bardhan, Mainak, Polavarapu, Kiran, Bevinahalli, Nandeesh N, Preethish-Kumar, Veeramani, Anjanappa, Ram Murthy, Arunachal, Gautham, Shingavi, Leena, Vengalil, Seena, Nashi, Saraswati, Chawla, Tanushree, Nagabushana, Divya, Mohan, Dhaarini, Horvath, Rita, Nishino, Ichizo, Nalini, Atchayaram

“…A Correction to this paper has been published: https://doi.org/10.1038/s10038-021-00920-2…”
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Clinical, biochemical, radiological, and genetic profile of patients with homocysteine remethylation pathway defect and spastic paraplegia by Padmanabha, Hansashree, Mahale, Rohan, Christopher, Rita, Arunachal, Gautham, Bhat, Maya, Mondal, Mahammad, Anjanappa, Ram, Mundlamuri, Ravindranadh, Yadav, Ravi, Vengalil, Seena, Mailankody, Pooja, Mathuranath, Pavagada, Chandra, Sadanandavalli, Nalini, Atchayaram

“…Objectives: The objective of this study is to describe the clinical, biochemical, radiological, and genetic profile of patients presenting with progressive…”
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Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India by Ganaraja, Valakunja H., Polavarapu, Kiran, Bardhan, Mainak, Preethish-Kumar, Veeramani, Leena, Shingavi, Anjanappa, Ram M., Vengalil, Seena, Nashi, Saraswati, Arunachal, Gautham, Gunasekaran, Swetha, Mohan, Dhaarini, Raju, Sanita, Unnikrishnan, Gopikrishnan, Huddar, Akshata, Ravi-Kiran, Valasani, Thomas, Priya T., Nalini, Atchayaram

“…Abstract 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…”
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Gender-specific association of TSNAX/DISC1 locus for schizophrenia and bipolar affective disorder in South Indian population by Ram Murthy, Anjanappa, Purushottam, Meera, Kiran Kumar, Halagur Bhoge Gowda, ValliKiran, Manduva, Krishna, Nithin, Jayramu Sriharsha, Kallahalli, Janardhan Reddy, Yemmiganur Chandrashekar, Ghosh, Saurabh, Jain, Sanjeev

“…Genetic association studies have implicated the TSNAX/DISC1 (disrupted in schizophrenia 1) in schizophrenia (SCZ), bipolar affective disorder (BPAD) and major…”
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Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review by Polavarapu, Kiran, Bardhan, Mainak, Anjanappa, Ram Murthy, Vengalil, Seena, Preethish-Kumar, Veeramani, Shingavi, Leena, Chawla, Tanushree, Nashi, Saraswati, Mohan, Dhaarini, Arunachal, Gautham, Geetha, Thenral S., Ramprasad, Vedam, Nalini, Atchayaram

“…BACKGROUND AND PURPOSEPathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been…”
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A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient by Nishadham, Vikas, Santhoshkumar, Rashmi, Nashi, Saraswati, Vengalil, Seena, Bardhan, Mainak, Polavarapu, Kiran, Sanka, Sai Bhargava, Anjanappa, Ram Murthy, Kulanthaivelu, Karthik, Saini, Jitender, Chickabasaviah, Yasha T, Nalini, Atchayaram

“…Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H is characterized by early…”
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Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India by Harikrishna, Ganaraja Valakunja, Padmanabha, Hansashree, Polavarapu, Kiran, Anjanappa, Ram Murthy, Preethish-Kumar, Veeramani, Nandeesh, Bevinahalli Nanjegowda, Vengalil, Seena, Nashi, Saraswati, Baskar, Dipti, Thomas, Aneesha, Bardhan, Mainak, Arunachal, Gautham, Menon, Deepak, Sanka, Sai Bhargava, Manjunath, Nisha, Nalini, Atchayaram

“…Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is…”
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GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort by Baskar, Dipti, Reddy, Nishanth, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Nishadham, Vikas, Vengalil, Seena, Nashi, Saraswati, Sanka, Sai Bhargava, Bardhan, Mainak, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Harikrishna, Ganaraja Valakunja, Gunasekaran, Swetha, Thomas, Priya Treesa, Keerthipriya, Muddasu Suhasini, Girija, Manu Santhappan, Arunachal, Gautham, Anjanappa, Ram Murthy, Nishino, Ichizo, Pogoryelova, Oksana, Lochmuller, Hanns, Nalini, Atchayaram

“…GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing…”
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Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort by Nagabushana, Divya, Polavarapu, Kiran, Bardhan, Mainak, Arunachal, Gautham, Gunasekaran, Swetha, Preethish-Kumar, Veeramani, Anjanappa, Ram Murthy, Thomas, PriyaTreesa, Sadasivan, Arun, Vengalil, Seena, Nashi, Saraswati, Chawla, Tanushree, Warrier, Manjusha, Keerthipriya, Muddasu, Raju, Sanita, Mohan, Dhaarini, Nalini, Atchayaram

“…Duchenne muscular dystrophy (DMD) is an X-linked disorder caused due to large deletions, duplications,and small pathogenic variants. This article compares the…”
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Abstract 10472: Impact of Polygenic Risk Scoring for Coronary Artery Disease on the Incidence of Chronic Kidney Disease and Acute Kidney Injury in Patients Undergoing Off Pump Coronary Artery Bypass Surgery by Kanchi, Muralidhar, Vedam, Ramprasad, Mishra, Sangamitra, Menon, Ramesh, Anjanappa, Ram Murthy

“…BackgroundThis study aims to determine the applicability of genome-wide polygenic risk score (GPSCAD) to patients who underwent off-pump (OP-CABG) in…”
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Rare forms of genetically mediated familial and sporadic amyotrophic lateral sclerosis: An Indian experience by Cheriyan, Anoop, Nashi, Saraswati, Vengalil, Seena, Menon, Deepak, Arunachal, Gautham, Anjanappa, Ram Murthy, Baskar, Dipti, Polavarapu, Kiran, Kumar, Veeramani Preethish, Bardhan, Mainak, Ms, Keertipriya, Nalini, Atchayaram

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Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort by Polavarapu, Kiran, Sunitha, Balaraju, Töpf, Ana, Preethish-Kumar, Veeramani, Thompson, Rachel, Vengalil, Seena, Nashi, Saraswati, Bardhan, Mainak, Sanka, Sai Bhargava, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Arunachal, Gautham, Girija, Manu Santhappan, Porter, Anna, Azuma, Yoshiteru, Lorenzoni, Paulo José, Baskar, Dipti, Anjanappa, Ram Murthy, Keertipriya, Madassu, Padmanabh, Hansashree, Harikrishna, Ganaraja Valakunja, Laurie, Steve, Matalonga, Leslie, Horvath, Rita, Nalini, Atchayaram, Lochmüller, Hanns

“…Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially…”
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Clinical and mutational spectrum of sarcoglycanopathies in a large cohort of Indian patients by Bardhan, Mainak, Murthy Anjanappa, Ram, Polavarapu, Kiran, Kumar, Veeramani, Nashi, Saraswati, Vengalil, Seena, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Chawla, Tanushree, Arunachal, Gautham, Nalini, Atchayaram

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Mutational spectrum of dysferlinopathies in a large Indian cohort by Nashi, Saraswati, Polavarapu, Kiran, Murthy Anjanappa, Ram, Preethish Kumar, Veeramani, Vengalil, Seena, Arunachal, Gautham, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Bardhan, Mainak, Raju, Sanita, Nalini, Atchayaram

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Phenotype genotype characterization of FKRP mutations in an Indian cohort of limb girdle muscular dystrophy by Unnikrishnan, Gopikrishnan, Bardhan, Mainak, Huddar, Akshata, Vengalil, Seena, Nashi, Saraswati, Padmanabha, Hansashree, Murthy Anjanappa, Ram, Polavarapu, Kiran, Shingavi, Leena, Preethish Kumar, Veeramani, Narayanappa, Gayathri, Nalini, Atchayaram

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Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India by Chawla, Tanushree, Nashi, Saraswati, Baskar, Dipti, Polavarapu, Kiran, Vengalil, Seena, Bardhan, Mainak, Preethish-Kumar, Veeramani, Sukrutha, Ramya, Unnikrishnan, Gopikrishnan, Huddar, Akshata, Padmanabha, Hansashree, Anjanappa, Ram Murthy, Bevinahalli, Nandeesh, Nittur, Vidya, Rajanna, Manoj, Arunachal Udupi, Gautham, Nalini, Atchayaram

“…Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.68 to 2.5/100,000, contributing to…”
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Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India by Nashi, ‬Saraswati, Polavarapu, Kiran, Bardhan, Mainak, Anjanappa, Ram Murthy, Preethish-Kumar, Veeramani, Vengalil, Seena, Padmanabha, Hansashree, Geetha, Thenral S., Prathyusha, P. V., Ramprasad, Vedam, Joshi, Aditi, Chawla, Tanushree, Unnikrishnan, Gopikirshnan, Sharma, Pooja, Huddar, Akshata, Uppilli, Bharathram, Thomas, Abel, Baskar, Dipti, Mathew, Susi, Menon, Deepak, Arunachal, Gautham, Faruq, Mohammed, Thangaraj, Kumarasamy, Nalini, Atchayaram

“…Dysferlinopathies are a group of limb-girdle muscular dystrophies causing significant disability in the young population. There is a need for studies on large…”
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