C‐reactive protein levels in patients with amyotrophic lateral sclerosis: A systematic review

por Kharel, Sanjeev, Ojha, Rajeev, Preethish‐Kumar, Veeramani, Bhagat, Riwaj
Publicado 2022

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

por Deepha, Sekar, Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Nalini, Atchayaram, Gayathri, Narayanappa, Purushottam, Meera
Publicado 2017

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

por Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Mahadevappa, Manjunath, Sekar, Deepha, Purushottam, Meera, Thomas, Priya Treesa, Nashi, Saraswathi, Nalini, Atchayaram
Publicado 2017

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

por Oury, Julien, Liu, Yun, Töpf, Ana, Todorovic, Slobodanka, Hoedt, Esthelle, Preethish-Kumar, Veeramani, Neubert, Thomas A., Lin, Weichun, Lochmüller, Hanns, Burden, Steven J.
Publicado 2019

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

por 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
Publicado 2023

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

por 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
Publicado 2021

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)

por 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
Publicado 2023

Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding

por Sadasivan, Arun, Warrier, Manjusha G, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Nair, Meera G, Keerthipriya, MS, Vengalil, Seena, Sagar, John Vijay, Kishore, Thomas, Nalini, Atchayaram, Thomas, Priya Treesa
Publicado 2021

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

por 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
Publicado 2021

Mutation Spectrum of Primary Lipid Storage Myopathies

por 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
Publicado 2022

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

por 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
Publicado 2022

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

por 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
Publicado 2021

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

por 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.
Publicado 2020

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

por 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, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A., Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S., Ziegler, Alban, Thorburn, David R., Stroud, David A., Maroofian, Reza, Christodoulou, John, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal, Horvath, Rita
Publicado 2023