Works matching AU Arunachal, Gautham

Results: 59
    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
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    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
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    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
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    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
    9
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    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
    11

    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
    12
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    Hajdu Cheney Syndrome.

    Published in:
    Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 2, p. 7, doi. 10.7860/JCDR/2016/15782.7203
    By:
    • SAMUEL, SHINI SUSAN;
    • SHETTY, SHRINATH;
    • ARUNACHAL, GAUTHAM;
    • KOSHY, SANTOSH;
    • PAUL, THOMAS VIZHALIL
    Publication type:
    Article
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    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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    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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    A rare case of myopathy with fatigability due to PYROXD1 variation.

    Published in:
    Journal of Neuromuscular Diseases, 2025, v. 12, n. 2, p. 293, doi. 10.1177/22143602241301635
    By:
    • Baskar, Dipti;
    • Thomas, Aneesha;
    • Boddu, Vijay Kumar;
    • Santhoshkumar, Rashmi;
    • Anjanappa, Ram Murthy;
    • Nashi, Saraswati;
    • Srivastava, Kosha;
    • Polavarapu, Kiran;
    • Arunachal, Gautham;
    • Kotambail, Ananthapadmanabha;
    • Rao, Bhoomika;
    • Mahadevan, Anita;
    • Nalini, Atchayaram;
    • Vengalil, Seena
    Publication type:
    Article
    32

    MICU1 related myopathy – a rare report from India.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1295, doi. 10.1177/22143602241288400
    By:
    • Baskar, Dipti;
    • Ganji, Suma Reddy;
    • Thomas, Aneesha;
    • Polavarapu, Kiran;
    • Nandeesh, Bevinahalli N.;
    • Sanka, Sai Bhargava;
    • Srivastava, Kosha;
    • Kotambail, Ananthapadmanabha;
    • Arunachal, Gautham;
    • Boddu, Vijay Kumar;
    • Nashi, Saraswati;
    • Nalini, Atchayaram;
    • Vengalil, Seena
    Publication type:
    Article
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    GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 959, doi. 10.3233/JND-230130
    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
    Publication type:
    Article
    35

    Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 935, doi. 10.3233/JND-230021
    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
    Publication type:
    Article
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    Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.

    Published in:
    Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 525, doi. 10.3233/JND-210658
    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
    Publication type:
    Article
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    Adult Onset Episodic Encephalopathy Due to Citrin Deficiency--A Case Report.

    Published in:
    Annals of Indian Academy of Neurology, 2023, v. 26, n. 4, p. 553, doi. 10.4103/aian.aian_175_23
    By:
    • Baskar, Dipti;
    • Lakshmi, Vathsala;
    • Nalini, Atchayaram;
    • Arunachal, Gautham;
    • Bhat, Maya Dhattatraya;
    • Nanjaiah, Nandakumar Dalavaikodihalli;
    • Yadav, Ravi;
    • Chowdary, Ravindranadh;
    • Raja, Pritam;
    • Mounika, Ambati;
    • P. S., Sharath;
    • Vengalil, Seena
    Publication type:
    Article
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    Mutation Spectrum of Primary Lipid Storage Myopathies.

    Published in:
    Annals of Indian Academy of Neurology, 2022, v. 25, n. 1, p. 106, doi. 10.4103/aian.aian_333_21
    By:
    • Vengalil, Seena;
    • Polavarapu, Kiran;
    • Preethish-Kumar, Veeramani;
    • Nashi, Saraswati;
    • Arunachal, Gautham;
    • Chawla, Tanushree;
    • Bardhan, Mainak;
    • Mohan, Dhaarini;
    • Christopher, Rita;
    • Bevinahalli, Nandeesh;
    • Kulanthaivelu, Karthik;
    • Nishino, Ichizo;
    • Faruq, Mohammad;
    • Nalini, Atchayaram
    Publication type:
    Article
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    Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.

    Published in:
    Annals of Indian Academy of Neurology, 2021, v. 24, n. 6, p. 908, doi. 10.4103/aian.AIAN_223_21
    By:
    • Padmanabha, Hansashree;
    • Mahale, Rohan;
    • Christopher, Rita;
    • Arunachal, Gautham;
    • Bhat, Maya;
    • Mondal, Mahammad Samim;
    • Anjanappa, Ram Murthy;
    • Mundlamuri, Ravindranadh Chowdhary;
    • Yadav, Ravi;
    • Vengalil, Seena;
    • Mailankody, Pooja;
    • Mathuranath, Pavagada S.;
    • Chandra, Sadanandavalli R.;
    • Nalini, Atchayaram
    Publication type:
    Article
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