Works matching AU Nashi, Saraswati

Results: 87
    1

    Cardiac Magnetic Resonance Imaging Markers in Idiopathic Inflammatory Myopathy – A Prospective Observational Study.

    Published in:
    Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 392, doi. 10.4103/aian.aian_1001_24
    By:
    • Samim, MM;
    • Barthur, Ashita;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Menon, Deepak;
    • Ganga, Kartik;
    • Gutta, Bhavana Krishna;
    • Jadhao, Abhijeet Narsing;
    • Baskar, Dipti;
    • Tiwari, Ravindu;
    • Manu, SG;
    • Nittur, Vidya;
    • Thomas, Priya Treesa;
    • Sathyaprabha, Talakad N;
    • Nalini, Atchayaram
    Publication type:
    Article
    2

    Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum.

    Published in:
    Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100036
    By:
    • Baskar, Dipti;
    • Christopher, Rita;
    • Arunachal, Gautham;
    • Srinivas Anudeep, Davuluri Durga;
    • Mounika, Ambati;
    • Sangeeth, T. A .;
    • Polavarapu, Kiran;
    • Shalini, BS;
    • Joshi, Tarachand;
    • Sanka, Sai Bhargava;
    • Nashi, Saraswati;
    • Raja, Pritam;
    • Chowdary, Ravindranadh Mundlamuri;
    • Yadav, Ravi;
    • Nalini, Atchayaram;
    • Vengalil, Seena
    Publication type:
    Article
    3

    Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.

    Published in:
    Neurogenetics, 2024, v. 25, n. 4, p. 435, doi. 10.1007/s10048-024-00776-6
    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
    Publication type:
    Article
    4

    Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.

    Published in:
    Neurogenetics, 2023, v. 24, n. 1, p. 43, doi. 10.1007/s10048-022-00707-3
    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
    Publication type:
    Article
    5

    Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.

    Published in:
    Neurogenetics, 2022, v. 23, n. 3, p. 187, doi. 10.1007/s10048-022-00690-9
    By:
    • Bardhan, Mainak;
    • Anjanappa, Ram Murthy;
    • Polavarapu, Kiran;
    • Preethish-Kumar, Veeramani;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Sanga, Shamita;
    • Padmanabh, Hansashree;
    • Valasani, Ravi Kiran;
    • Nishadham, Vikas;
    • Keerthipriya, Muddasu;
    • Geetha, Thenral S.;
    • Ramprasad, Vedam;
    • Arunachal, Gautham;
    • Thomas, Priya Treesa;
    • Acharya, Moulinath;
    • Nalini, Atchayaram
    Publication type:
    Article
    6

    A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

    Published in:
    Neurogenetics, 2021, v. 22, n. 4, p. 271, doi. 10.1007/s10048-021-00658-1
    By:
    • Polavarapu, Kiran;
    • Mathur, Aradhna;
    • Joshi, Aditi;
    • Nashi, Saraswati;
    • Preethish-Kumar, Veeramani;
    • Bardhan, Mainak;
    • Sharma, Pooja;
    • Parveen, Shaista;
    • Seth, Malika;
    • Vengalil, Seena;
    • Chawla, Tanushree;
    • Shingavi, Leena;
    • Shamim, Uzma;
    • Nayak, Sushmita;
    • Vivekanand, A.;
    • Töpf, Ana;
    • Roos, Andreas;
    • Horvath, Rita;
    • Lochmüller, Hanns;
    • Nandeesh, Bevinahalli
    Publication type:
    Article
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    Worm in the Brain: A Case of CNS Gnathostomiasis.

    Published in:
    Neurology India, 2022, v. 70, n. 6, p. 2458, doi. 10.4103/0028-3886.364071
    By:
    • Pon, Arun;
    • R Taallapalli, A;
    • Reddy, Haripriya;
    • Nashi, Saraswati;
    • Mangalore, Sandhya;
    • Srijithesh, P;
    • Kulkarni, Girish;
    • Alladi, Suvarna;
    • Dekumyoy, Paron
    Publication type:
    Article
    11

    An Imaging Clue for Diagnosis of Spinal Cord Infarct.

    Published in:
    2022
    By:
    • Tallapalli, Ashok Vardhan Reddy;
    • Nashi, Saraswati;
    • Shrivastava, Mayank;
    • Rajendran, Srijithesh;
    • Kulkarni, Girish Baburao;
    • Alladi, Suvarna;
    • Reddy Tallapalli, Ashok Vardhan
    Publication type:
    Journal Article
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    A Rare Case of Eosinophilic Myelitis Due to Gnathostomiasis.

    Published in:
    Neurology India, 2022, v. 70, n. 1, p. 395, doi. 10.4103/0028-3886.338692
    By:
    • Baskar, Dipti;
    • Nashi, Saraswati;
    • Reddy, Ashok;
    • Vangayalapati, Sriharish;
    • Arshad, Faheem;
    • Srijithesh, P;
    • Kulkarni, Girish;
    • Alladi, Suvarna;
    • Wallop, Pakdee;
    • Ketboonlue, Thawatchai;
    • Dekumyoy, Paron
    Publication type:
    Article
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    Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene.

    Published in:
    Human Mutation, 2023, p. 1, doi. 10.1155/2023/4362273
    By:
    • Manjunath, V.;
    • Thenral, S. G.;
    • Lakshmi, B. R.;
    • Nalini, Atchayaram;
    • Bassi, A.;
    • Karthikeyan, K. Priya;
    • Piyusha, K.;
    • Menon, R.;
    • Malhotra, A.;
    • Praveena, L. S.;
    • Anjanappa, R. M.;
    • Murugan, S. M. Sakthivel;
    • Polavarapu, Kiran;
    • Bardhan, Mainak;
    • Preethish-Kumar, V.;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Sanga, S.;
    • Acharya, M.;
    • Raju, R.
    Publication type:
    Article
    19

    Cognitive and Behavioral Profile of Patients with Amyotrophic Lateral Sclerosis Spectrum in the Indian Context.

    Published in:
    Dementia & Geriatric Cognitive Disorders, 2024, v. 53, n. 6, p. 310, doi. 10.1159/000540018
    By:
    • Srivastava, Kosha;
    • Arshad, Faheem;
    • Mujawar, Wasim Javed;
    • Cranberg, Lee;
    • Rajeshwaran, Jamuna;
    • Afsar, Mohammad;
    • Thanissery, Nithin;
    • Desai, Vaishnavi;
    • Keerthana, Bangalore Somashekar;
    • Shubhangi, Balu;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Baskar, Dipti;
    • Polavarapu, Kiran;
    • Preethish-Kumar, Veeramani;
    • Alladi, Suvarna;
    • Nalini, Atchayaram
    Publication type:
    Article
    20

    A novel DHTKD1 gene mutation with ALS like presentation: a case report.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024, v. 25, n. 3/4, p. 413, doi. 10.1080/21678421.2023.2273366
    By:
    • Menon, Deepak;
    • Nashi, Saraswati;
    • Mohanty, Manisha;
    • Dubbal, Rohin;
    • MK, Farsana;
    • Vengalil, Seena;
    • Thomas, Aneesha;
    • Kumar, Vijay;
    • Baskar, Dipti;
    • Arunachal, Gautham;
    • Nalini, Atchayaram
    Publication type:
    Article
    21

    Caregiver burden and quality of life of patients with amyotrophic lateral sclerosis in India.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 7/8, p. 606, doi. 10.1080/21678421.2018.1482353
    By:
    • Thomas, Priya Treesa;
    • Warrier, Manjusha G.;
    • Sadasivan, Arun;
    • Balasubramanium, Bhuvaneshwari;
    • Preethish-kumar, Veeramani;
    • Nashi, Saraswati;
    • Polavarapu, Kiran;
    • Krishna, Gopalkrishna;
    • Vengalil, Seena;
    • Rajaram, Prakashi;
    • Nalini, Atchayaram
    Publication type:
    Article
    22
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    A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.

    Published in:
    Journal of Molecular Neuroscience, 2021, v. 71, n. 12, p. 2468, doi. 10.1007/s12031-021-01856-0
    By:
    • Santhoshkumar, Rashmi;
    • Preethish-Kumar, Veeramani;
    • Polavarapu, Kiran;
    • Reghunathan, Dinesh;
    • Chaudhari, Sima;
    • Satyamoorthy, Kapaettu;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Faruq, Muhammed;
    • Joshi, Aditi;
    • Atchayaram, Nalini;
    • Narayanappa, Gayathri
    Publication type:
    Article
    24

    Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.

    Published in:
    Global Medical Genetics, 2022, v. 9, n. 1, p. 34, doi. 10.1055/s-0041-1736567
    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
    Publication type:
    Article
    25

    Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.

    Published in:
    Internal Medicine Journal, 2024, v. 54, n. 3, p. 455, doi. 10.1111/imj.16205
    By:
    • Baskar, Dipti;
    • Veeramani‐Kumar, Preethish;
    • Polavarapu, Kiran;
    • Nashi, Saraswati;
    • Vengalil, Seena;
    • Menon, Deepak;
    • Thomas, Aneesha;
    • Bhargava Sanka, Sai;
    • Muddasu Suhasini, Keerthipriya;
    • Huddar, Akshata;
    • Unnikrishnan, Gopikrishnan;
    • Bardhan, Mainak;
    • Thomas, Priya Treesa;
    • Manjunath, Nisha;
    • Atchayaram, Nalini
    Publication type:
    Article
    26

    Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation.

    Published in:
    2020
    By:
    • Varghese, Anu Mary;
    • Ghosh, Mausam;
    • Bhagat, Savita Kumari;
    • Vijayalakshmi, K.;
    • Preethish-Kumar, Veeramani;
    • Vengalil, Seena;
    • Chevula, Pradeep-Chandra-Reddy;
    • Nashi, Saraswati;
    • Polavarapu, Kiran;
    • Sharma, Meenakshi;
    • Dhaliwal, Rupinder Singh;
    • Philip, Mariamma;
    • Nalini, Atchayaram;
    • Alladi, Phalguni Anand;
    • Sathyaprabha, Talakad N.;
    • Raju, Trichur R.
    Publication type:
    journal article
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    Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6
    By:
    • Sanga, Shamita;
    • Chakraborty, Sudipta;
    • Bardhan, Mainak;
    • Polavarapu, Kiran;
    • Kumar, Veeramani Preethish;
    • Bhattacharya, Chandrika;
    • Nashi, Saraswati;
    • Vengalil, Seena;
    • Geetha, Thenral S.;
    • Ramprasad, Vedam;
    • Nalini, Atchayaram;
    • Basu, Analabha;
    • Acharya, Moulinath
    Publication type:
    Article
    32

    Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6
    By:
    • Sanga, Shamita;
    • Chakraborty, Sudipta;
    • Bardhan, Mainak;
    • Polavarapu, Kiran;
    • Kumar, Veeramani Preethish;
    • Bhattacharya, Chandrika;
    • Nashi, Saraswati;
    • Vengalil, Seena;
    • Geetha, Thenral S.;
    • Ramprasad, Vedam;
    • Nalini, Atchayaram;
    • Basu, Analabha;
    • Acharya, Moulinath
    Publication type:
    Article
    33
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    Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1594, doi. 10.1002/ajmg.a.38707
    By:
    • Owen, David;
    • Töpf, Ana;
    • Preethish‐Kumar, Veeramani;
    • Lorenzoni, Paulo José;
    • Vroling, Bas;
    • Scola, Rosana Herminia;
    • Dias‐Tosta, Elza;
    • Geraldo, Argemiro;
    • Polavarapu, Kiran;
    • Nashi, Saraswati;
    • Cox, Daniel;
    • Evangelista, Teresinha;
    • Dawson, John;
    • Thompson, Rachel;
    • Senderek, Jan;
    • Laurie, Steven;
    • Beltran, Sergi;
    • Gut, Marta;
    • Gut, Ivo;
    • Nalini, Atchayaram
    Publication type:
    Article
    35

    Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis.

    Published in:
    Journal of Clinical Ultrasound, 2022, v. 50, n. 1, p. 131, doi. 10.1002/jcu.23069
    By:
    • Rajula, Rahul Reddy;
    • Saini, Jitender;
    • Unnikrishnan, Gopikrishnan;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Bardhan, Mainak;
    • Huddar, Akshata;
    • Chawla, Tanushree;
    • Sindhu, Dodmalur Mallikarjuna;
    • Ganaraja, Valakunja Harikrishna;
    • Polavarapu, Kiran;
    • Preethish‐Kumar, Veeramani;
    • Kandavel, Thennarasu;
    • Sathyaprabha, Talakad N.;
    • Nalini, Atchayaram
    Publication type:
    Article
    36

    Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 281, doi. 10.1093/brain/awad315
    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
    Publication type:
    Article
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    Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 3, p. 992, doi. 10.1111/ene.14616
    By:
    • Sanga, Shamita;
    • Ghosh, Arnab;
    • Kumar, Krishna;
    • Polavarapu, Kiran;
    • Preethish‐Kumar, Veeramani;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Bardhan, Mainak;
    • Arunachal, Gautham;
    • Raju, Sanita;
    • Gayathri, Narayanappa;
    • Biswas, Nidhan K.;
    • Chakrabarti, Saikat;
    • Nalini, Atchayaram;
    • Roy, Sudipto;
    • Acharya, Moulinath
    Publication type:
    Article
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    Family Caregivers' Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India.

    Published in:
    Journal of Social Work in End-of-Life & Palliative Care, 2019, v. 15, n. 2/3, p. 111, doi. 10.1080/15524256.2019.1645081
    By:
    • Warrier, Manjusha G.;
    • Thomas, Priya Treesa;
    • Sadasivan, Arun;
    • Balasubramaniam, Bhuvaneshwari;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Preethish-Kumar, Veeramani;
    • Polavarapu, Kiran;
    • Mahajan, Niranjan Prakash;
    • Chevula, Pradeep Chandra Reddy;
    • Nalini, Atchayaram
    Publication type:
    Article
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    Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis.

    Published in:
    Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100909
    By:
    • Huddar, Akshata;
    • Polavarapu, Kiran;
    • Preethish-Kumar, Veeramani;
    • Bardhan, Mainak;
    • Unnikrishnan, Gopikrishnan;
    • Nashi, Saraswati;
    • Vengalil, Seena;
    • Priyadarshini, Priyanka;
    • Kulanthaivelu, Karthik;
    • Arunachal, Gautham;
    • Lochmüller, Hanns;
    • Nalini, Atchayaram
    Publication type:
    Article
    47

    PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings.

    Published in:
    Neurological Research & Practice, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42466-022-00213-9
    By:
    • Girija, Manu Santhappan;
    • Tiwari, Ravindu;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Preethish-Kumar, Veeramani;
    • Polavarapu, Kiran;
    • Kulanthaivelu, Karthik;
    • Arbind, Arpana;
    • Bardhan, Mainak;
    • Huddar, Akshata;
    • Unnikrishnan, Gopikrishnan;
    • Kiran, Valasani Ravi;
    • Chawla, Tanushree;
    • Nandeesh, Bevinahalli;
    • Nagaraj, Chandana;
    • Nalini, Atchayaram
    Publication type:
    Article
    48

    Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis.

    Published in:
    Journal of Clinical Ultrasound, 2022, v. 50, n. 2, p. 286, doi. 10.1002/jcu.23084
    By:
    • Rajula, Rahul Reddy;
    • Saini, Jitender;
    • Unnikrishnan, Gopikrishnan;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Bardhan, Mainak;
    • Huddar, Akshata;
    • Chawla, Tanushree;
    • Sindhu, Dodmalur Malikarjuna;
    • Ganaraja, Valakunja Harikrishna;
    • Polavarapu, Kiran;
    • Preethish‐Kumar, Veeramani;
    • Kandavel, Thennarasu;
    • Nalini, Atchayaram
    Publication type:
    Article
    49

    Evidence for Mycobacterium leprae Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India.

    Published in:
    American Journal of Tropical Medicine & Hygiene, 2020, v. 102, n. 3, p. 547, doi. 10.4269/ajtmh.19-0390
    By:
    • Mahajan, Niranjan Prakash;
    • Lavania, Mallika;
    • Singh, Itu;
    • Nashi, Saraswati;
    • Preethish-Kumar, Veeramani;
    • Vengalil, Seena;
    • Polavarapu, Kiran;
    • Pradeep-Chandra-Reddy, Chevula;
    • Keerthipriya, Muddasu;
    • Mahadevan, Anita;
    • Yasha, Tagaduru Chickabasaviah;
    • Nandeesh, Bevinahalli Nanjegowda;
    • Gnanakumar, Krishnamurthy;
    • Parry, Gareth J.;
    • Sengupta, Utpal;
    • Nalini, Atchayaram
    Publication type:
    Article
    50

    Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study.

    Published in:
    American Journal of Tropical Medicine & Hygiene, 2019, v. 100, n. 4, p. 921, doi. 10.4269/ajtmh.17-0945
    By:
    • Polavarapu, Kiran;
    • Preethish-Kumar, Veeramani;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Lavania, Mallika;
    • Bhattacharya, Kajari;
    • Mahadevan, Anita;
    • Yasha, Thagadur Chickabasaviah;
    • Saini, Jitender;
    • Sengupta, Utpal;
    • Jabeen, Shumyla;
    • Nandeesh, Bevinahalli N.;
    • Singh, Itu;
    • Mahajan, Niranjan P.;
    • Pradeep-Chandra-Reddy,, Chevula;
    • Parry, Gareth J.;
    • Nalini, Atchayaram
    Publication type:
    Article