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HTRA1 -Related Cerebral Small Vessel Disease: A Review of the Literature.
Published in:
Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00545
By:
- Uemura, Masahiro;
- Nozaki, Hiroaki;
- Kato, Taisuke;
- Koyama, Akihide;
- Sakai, Naoko;
- Ando, Shoichiro;
- Kanazawa, Masato;
- Hishikawa, Nozomi;
- Nishimoto, Yoshinori;
- Polavarapu, Kiran;
- Nalini, Atchayaram;
- Hanazono, Akira;
- Kuzume, Daisuke;
- Shindo, Akihiro;
- El-Ghanem, Mohammad;
- Abe, Arata;
- Sato, Aki;
- Yoshida, Mari;
- Ikeuchi, Takeshi;
- Mizuta, Ikuko
Publication type:
Article
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
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
Published in:
Annals of Indian Academy of Neurology, 2021, v. 24, n. 2, p. 198, doi. 10.4103/aian.AIAN_18_20
By:
- Mhatre, Radhika;
- Sekar, Deepha;
- Ponmalar, Jessiena;
- Nagappa, Madhu;
- Veeramani, Preethish-Kumar;
- Polavarapu, Kiran;
- Vengalil, Seena;
- Atchayaram, Nalini;
- Narayanappa, Gayathri
Publication type:
Article
Palliative care needs and care giver burden in neurodegenerative diseases: A cross sectional study.
Published in:
Annals of Indian Academy of Neurology, 2020, v. 23, n. 3, p. 313, doi. 10.4103/aian.AIAN_304_19
By:
- Lithin, Zacharias;
- Thomas, Priya;
- Warrier, G;
- Bhaskar, Adhin;
- Nashi, Saraswathi;
- Vengalil, Seena;
- Polavarapu, Kiran;
- Kumar, Preethish;
- Yadav, Ravi;
- Alladi, Suvarna;
- Atchayaram, Nalini;
- Pal, Pramod
Publication type:
Article
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
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
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
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1797, doi. 10.1002/humu.23792
By:
- Thompson, Rachel;
- Papakonstantinou Ntalis, Anastasios;
- Beltran, Sergi;
- Töpf, Ana;
- Paula Estephan, Eduardo;
- Polavarapu, Kiran;
- 't Hoen, Peter A. C.;
- Missier, Paolo;
- Lochmüller, Hanns
Publication type:
Article
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
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
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
An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings.
Published in:
Chronic Illness, 2023, v. 19, n. 2, p. 458, doi. 10.1177/17423953221097076
By:
- Thomas, Priya Treesa;
- Warrier, Manjusha G;
- Arun, S;
- Bhuvaneshwari, B;
- Vengalil, Seena;
- Nashi, Saraswati;
- Preethish-Kumar, Veeramani;
- Polavarapu, Kiran;
- Rajaram, Prakashi;
- Nalini, Atchayaram
Publication type:
Article
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
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
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
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
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
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
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 969, doi. 10.3233/JND-230172
By:
- Baskar, Dipti;
- Preethish-Kumar, Veeramani;
- Polavarapu, Kiran;
- Vengalil, Seena;
- Nashi, Saraswati;
- Menon, Deepak;
- Ganaraja, Valakunja Harikrishna;
- Girija, Manu Santhappan;
- Nandeesh, Bevinahalli Nanjegowda;
- Arunachal, Gautham;
- Nalini, Atchayaram
Publication type:
Article
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
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
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 767, doi. 10.3233/JND-240020
By:
- Olimpio, Catarina;
- Paramonov, Ida;
- Matalonga, Leslie;
- Laurie, Steven;
- Schon, Katherine;
- Polavarapu, Kiran;
- Kirschner, Janbernd;
- Schara-Schmidt, Ulrike;
- Lochmüller, Hanns;
- Chinnery, Patrick F.;
- Horvath, Rita
Publication type:
Article
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 221, doi. 10.3233/JND-230042
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
Publication type:
Article
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 727, doi. 10.3233/JND-230017
By:
- Baskar, Dipti;
- Vengalil, Seena;
- Nashi, Saraswati;
- Bardhan, Mainak;
- Srivastava, Kosha;
- Sanka, Sai Bhargava;
- Polavarapu, Kiran;
- Menon, Deepak;
- Preethish-Kumar, Veeramani;
- Padmanabha, Hansashree;
- Arunachal, Gautham;
- Nalini, Atchayaram
Publication type:
Article
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 615, doi. 10.3233/JND-221618
By:
- Unnikrishnan, Gopikrishnan;
- Polavarapu, Kiran;
- Bardhan, Mainak;
- Nashi, Saraswati;
- Vengalil, Seena;
- Preethish-Kumar, Veeramani;
- Valasani, Ravi Kiran;
- Huddar, Akshata;
- Nishadham, Vikas;
- Nandeesh, Bevinahalli Nanjegowda;
- Nalini, Atchayaram
Publication type:
Article
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 227, doi. 10.3233/JND-221621
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.
Publication type:
Article
Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 411, doi. 10.3233/JND-210785
By:
- Nishadham, Vikas;
- Bardhan, Mainak;
- Polavarapu, Kiran;
- Vengalil, Seena;
- Nashi, Saraswati;
- Menon, Deepak;
- Ganaraja, Valakunja Harikrishna;
- Preethish-Kumar, Veeramani;
- Valasani, Ravi Kiran;
- Huddar, Akshata;
- Unnikrishnan, Gopi Krishnan;
- Thomas, Abel;
- Saravanan, Akshaya;
- Kulanthaivelu, Karthik;
- Nalini, Atchayaram;
- Nandeesh, Bevinahalli Nanjegowda
Publication type:
Article
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 261, doi. 10.3233/JND-210728
By:
- Chawla, Tanushree;
- Preethish-Kumar, Veeramani;
- Polavarapu, Kiran;
- Vengalil, Seena;
- Bardhan, Mainak;
- Puri, RatnaDua;
- Verma, Jyotsna;
- Christopher, Rita;
- Supriya, Manjunath;
- Nashi, Saraswati;
- Prasad, Chandrajit;
- Nadeesh, Bevinahalli;
- Nalini, Atchayaram
Publication type:
Article
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 347, doi. 10.3233/JND-210716
By:
- Beijer, Danique;
- Polavarapu, Kiran;
- Preethish-Kumar, Veeramani;
- Bardhan, Mainak;
- Dohrn, Maike F.;
- Rebelo, Adriana;
- Züchner, Stephan;
- Nalini, Atchayaram
Publication type:
Article
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 95, doi. 10.3233/JND-200628
By:
- Siddiqui, Shahyan;
- Polavarapu, Kiran;
- Bardhan, Mainak;
- Preethish-Kumar, Veeramani;
- Joshi, Aditi;
- Nashi, Saraswati;
- Vengalil, Seena;
- Raju, Sanita;
- Chawla, Tanushree;
- Leena, Shingavi;
- Mathur, Aradhana;
- Nayak, Sushmita;
- Mohan, Dhaarini;
- Shamim, Uzma;
- Prasad, Chandrajit;
- Lochmüller, Hanns;
- Faruq, Mohammed;
- Nalini, Atchayaram
Publication type:
Article
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
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
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
Novel <i>TCAP</i> Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G.
Published in:
PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102763
By:
- Francis, Amirtharaj;
- Sunitha, Balaraju;
- Vinodh, Kandavalli;
- Polavarapu, Kiran;
- Katkam, Shiva Krishna;
- Modi, Sailesh;
- Bharath, M. M. Srinivas;
- Gayathri, Narayanappa;
- Nalini, Atchayaram;
- Thangaraj, Kumarasamy
Publication type:
Article
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
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
Palliative care in duchenne muscular dystrophy: A study on parents' understanding.
Published in:
Indian Journal of Palliative Care, 2021, v. 27, n. 1, p. 146, doi. 10.4103/IJPC.IJPC_259_20
By:
- Sadasivan, Arun;
- Warrier, Manjusha;
- Polavarapu, Kiran;
- Preethish-Kumar, Veeramani;
- Nair, Meera;
- Keerthipriya, M;
- Vengalil, Seena;
- Sagar, John;
- Kishore, Thomas;
- Nalini, Atchayaram;
- Thomas, Priya
Publication type:
Article
Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis.
Published in:
Indian Journal of Palliative Care, 2020, v. 26, n. 1, p. 61, doi. 10.4103/IJPC.IJPC_123_19
By:
- Warrier, Manjusha G.;
- Sadasivan, Arun;
- Polavarapu, Kiran;
- Kumar, Veeramani Preethish;
- Mahajan, Niranjan Prakash;
- Chandra Reddy, Chevula Pradeep;
- Vengalil, Seena;
- Nashi, Saraswati;
- Nalini, Atchayaram;
- Thomas, Priya Treesa
Publication type:
Article
Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.
Published in:
Neurology India, 2024, v. 72, n. 1, p. 83, doi. 10.4103/neuroindia.NI_1432_20
By:
- Chawla, Tanushree;
- Reddy, Nishanth;
- Jankar, Rahul;
- Vengalil, Seena;
- Polavarapu, Kiran;
- Arunachal, Gautham;
- Preethish-Kumar, Veeramani;
- Nashi, Saraswati;
- Bardhan, Mainak;
- Rajeshwaran, Jamuna;
- Afsar, Mohammad;
- Warrier, Manjusha;
- Thomas, Priya;
- Thennarasu, Kandavel;
- Nalini, Atchayaram
Publication type:
Article
Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review.
Published in:
2018
By:
- Preethish-Kumar, Veeramani;
- Polavarapu, Kiran;
- Nashi, Saraswati;
- Bhattacharya, Kajari;
- Saini, Jitender;
- Vengalil, Seena;
- Pruthi, Nupur;
- Bhat, Dhananjay I.;
- Nalini, Atchayaram
Publication type:
journal article
Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India.
Published in:
2018
By:
- Singh, Ravinder-Jeet;
- Manjunath, Mahadevappa;
- Preethish-Kumar, Veeramani;
- Polavarapu, Kiran;
- Vengalil, Seena;
- Thomas, Priya T.;
- Thennarasu, Kandavel;
- Gayathri, Narayanappa;
- Sekar, Deepha;
- Nashi, Saraswati;
- Nalini, Atchayaram
Publication type:
journal article
Muscular dystrophies: An Indian scenario.
Published in:
2017
By:
- Nalini, Atchayaram;
- Polavarapu, Kiran;
- Preethish-Kumar, Veeramani
Publication type:
journal article
A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India.
Published in:
Neurology India, 2015, v. 63, n. 4, p. 548, doi. 10.4103/0028-3886.162048
By:
- Nalini, Atchayaram;
- Polavarapu, Kiran;
- Sunitha, Balaraju;
- Kulkarni, Sandhya;
- Gayathri, Narayanappa;
- Bharath, M. M. Srinivas;
- Modi, Sailesh;
- Preethish-Kumar, Veeramani
Publication type:
Article
Schooling of Children with Duchenne Muscular Dystrophy: Experiences from a Tertiary Care Center in India.
Published in:
School Social Work Journal (Illinois Association of School Social Workers), 2021, v. 45, n. 2, p. 21
By:
- Sadasivan, Arun;
- Warrier, Manjusha G.;
- Kishore, M. Thomas;
- Sagar, K. John Vijaya;
- Vengalil, Seena;
- Polavarapu, Kiran;
- Preethish-Kumar, Veeramani;
- Nair, Meera G.;
- Keerthipriya, M. S.;
- Nalini, Atchayaram;
- Thomas, Priya Treesa
Publication type:
Article
Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype.
Published in:
Neurology Asia, 2024, v. 29, n. 2, p. 397, doi. 10.54029/2024ifk
By:
- Sanka, Sai Bhargava;
- Vengalil, Seena;
- Polavarapu, Kiran;
- Baskar, Dipti;
- Nashi, Saraswati;
- Thomas, Aneesha;
- Boddu, Vijay Kumar;
- Menon, Deepak;
- Padmanabha, Hansashree;
- Rao, Bhoomika M.;
- Arunachal, Gautham;
- Nalini, Atchayaram
Publication type:
Article
Identification of Ganglion cyst causing suprascapular nerve neuropathy by high resolution neurosonography.
Published in:
Neurology Asia, 2016, v. 21, n. 4, p. 381
By:
- Vengalil, Seena;
- Preethish-Kumar, Veeramani;
- Polavarapu, Kiran;
- Bhattacharya, Kajari;
- Nalini, Atchayaram
Publication type:
Article
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Published in:
Journal of Neurology, 2024, v. 271, n. 6, p. 3546, doi. 10.1007/s00415-024-12319-y
By:
- Ferreira, Tomas;
- Polavarapu, Kiran;
- Olimpio, Catarina;
- Paramonov, Ida;
- Lochmüller, Hanns;
- Horvath, Rita
Publication type:
Article
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
Published in:
Journal of Neurology, 2024, v. 271, n. 3, p. 1331, doi. 10.1007/s00415-023-12070-w
By:
- Pugliese, Alessia;
- Della Marina, Adela;
- de Paula Estephan, Eduardo;
- Zanoteli, Edmar;
- Roos, Andreas;
- Schara-Schmidt, Ulrike;
- Hentschel, Andreas;
- Azuma, Yoshiteru;
- Töpf, Ana;
- Thompson, Rachel;
- Polavarapu, Kiran;
- Lochmüller, Hanns
Publication type:
Article
Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform.
Published in:
Journal of Neurology, 2022, v. 269, n. 4, p. 2113, doi. 10.1007/s00415-021-10789-y
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
Publication type:
Article
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.
Published in:
Journal of Neurology, 2019, v. 266, n. 9, p. 2177, doi. 10.1007/s00415-019-09380-3
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
Publication type:
Article

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