Works by Polavarapu, Kiran

Results: 79
    1

    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
    2

    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
    3

    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
    4

    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
    5

    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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    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
    11
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    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
    13

    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
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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
    19

    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
    20

    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
    21
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    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
    23

    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
    24

    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
    25

    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36277-7
    By:
    • Van Haute, Lindsey;
    • O'Connor, Emily;
    • Díaz-Maldonado, Héctor;
    • Munro, Benjamin;
    • Polavarapu, Kiran;
    • Hock, Daniella H.;
    • Arunachal, Gautham;
    • Athanasiou-Fragkouli, Alkyoni;
    • Bardhan, Mainak;
    • Barth, Magalie;
    • Bonneau, Dominique;
    • Brunetti-Pierri, Nicola;
    • Cappuccio, Gerarda;
    • Caruana, Nikeisha J.;
    • Dominik, Natalia;
    • Goel, Himanshu;
    • Helman, Guy;
    • Houlden, Henry;
    • Lenaers, Guy;
    • Mention, Karine
    Publication type:
    Article
    26

    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
    27

    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
    28

    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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    Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 3, p. 833, doi. 10.1111/ene.15173
    By:
    • Estephan, Eduardo P.;
    • Zambon, Antonio A.;
    • Thompson, Rachel;
    • Polavarapu, Kiran;
    • Jomaa, Danny;
    • Töpf, Ana;
    • Helito, Paulo V. P.;
    • Heise, Carlos O.;
    • Moreno, Cristiane A. M.;
    • Silva, André M. S.;
    • Kouyoumdjian, Joao A.;
    • Morita, Maria da Penha;
    • Reed, Umbertina C.;
    • Lochmüller, Hanns;
    • Zanoteli, Edmar
    Publication type:
    Article
    34

    Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
    By:
    • Chen, Zhongbo;
    • Maroofian, Reza;
    • Başak, A. Nazlı;
    • Shingavi, Leena;
    • Karakaya, Mert;
    • Efthymiou, Stephanie;
    • Gustavsson, Emil K.;
    • Meier, Leyla;
    • Polavarapu, Kiran;
    • Vengalil, Seena;
    • Preethish‐Kumar, Veeramani;
    • Nandeesh, Bevinahalli N.;
    • Gökçe Güneş, Nalan;
    • Akan, Onur;
    • Candan, Fatma;
    • Schrank, Bertold;
    • Zuchner, Stephan;
    • Murphy, David;
    • Kapoor, Mahima;
    • Ryten, Mina
    Publication type:
    Article
    35

    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
    36

    Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.

    Published in:
    2023
    By:
    • Hentschel, Andreas;
    • Meyer, Nancy;
    • Kohlschmidt, Nicolai;
    • Groß, Claudia;
    • Sickmann, Albert;
    • Schara-Schmidt, Ulrike;
    • Förster, Fabian;
    • Töpf, Ana;
    • Christiansen, Jon;
    • Horvath, Rita;
    • Vorgerd, Matthias;
    • Thompson, Rachel;
    • Polavarapu, Kiran;
    • Lochmüller, Hanns;
    • Preusse, Corinna;
    • Hannappel, Luis;
    • Schänzer, Anne;
    • Grüneboom, Anika;
    • Gangfuß, Andrea;
    • Roos, Andreas
    Publication type:
    Correction Notice
    37

    A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.

    Published in:
    Molecular Neurobiology, 2023, v. 60, n. 5, p. 2602, doi. 10.1007/s12035-023-03219-9
    By:
    • Hentschel, Andreas;
    • Meyer, Nancy;
    • Kohlschmidt, Nicolai;
    • Groß, Claudia;
    • Sickmann, Albert;
    • Schara-Schmidt, Ulrike;
    • Förster, Fabian;
    • Töpf, Ana;
    • Christiansen, Jon;
    • Horvath, Rita;
    • Vorgerd, Matthias;
    • Thompson, Rachel;
    • Polavarapu, Kiran;
    • Lochmüller, Hanns;
    • Preusse, Corinna;
    • Hannappel, Luis;
    • Schänzer, Anne;
    • Grüneboom, Anika;
    • Gangfuß, Andrea;
    • Roos, Andreas
    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
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    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
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    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
    50

    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