Duchenne muscular dystrophy and Becker muscular dystrophy confirmed by multiplex ligation-dependent probe amplification: genotype-phenotype correlation in a large cohort S Vengalil, V Preethish-Kumar, K Polavarapu, M Mahadevappa, D Sekar, ... Journal of clinical neurology (Seoul, Korea) 13 (1), 91, 2017 | 54 | 2017 |
Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation AM Varghese, M Ghosh, SK Bhagat, K Vijayalakshmi, V Preethish-Kumar, ... Journal of Neuroinflammation 17, 1-15, 2020 | 30 | 2020 |
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness D Owen, A Töpf, V Preethish‐Kumar, PJ Lorenzoni, B Vroling, RH Scola, ... American Journal of Medical Genetics Part A 176 (7), 1594-1601, 2018 | 30 | 2018 |
Evidence for Mycobacterium leprae drug resistance in a large cohort of leprous neuropathy patients from India NP Mahajan, M Lavania, I Singh, S Nashi, V Preethish-Kumar, S Vengalil, ... The American Journal of Tropical Medicine and Hygiene 102 (3), 547, 2020 | 29 | 2020 |
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant S Balaraju, A Töpf, G McMacken, VP Kumar, A Pechmann, H Roper, ... European Journal of Human Genetics 28 (3), 373-377, 2020 | 27 | 2020 |
Comparison of speech tasks for automatic classification of patients with amyotrophic lateral sclerosis and healthy subjects A Illa, D Patel, BK Yamini, N Shivashankar, PK Veeramani, K Polavarapui, ... 2018 IEEE International Conference on Acoustics, Speech and Signal …, 2018 | 26 | 2018 |
Brain and spinal cord lesions in leprosy: A magnetic resonance imaging–based study K Polavarapu, V Preethish-Kumar, S Vengalil, S Nashi, M Lavania, ... The American Journal of Tropical Medicine and Hygiene 100 (4), 921, 2019 | 25 | 2019 |
Caregiver burden and quality of life of patients with amyotrophic lateral sclerosis in India PT Thomas, MG Warrier, A Sadasivan, B Balasubramanium, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19 (7-8), 606-610, 2018 | 24 | 2018 |
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome S Vengalil, V Preethish-Kumar, K Polavarapu, R Christopher, N Gayathri, ... Neuromuscular Disorders 27 (11), 986-996, 2017 | 23 | 2017 |
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 K Polavarapu, V Preethish-Kumar, D Sekar, S Vengalil, S Nashi, ... Journal of neurology 266, 2177-2185, 2019 | 21 | 2019 |
CARASIL families from India with 3 novel null mutations in the HTRA1 gene V Preethish-Kumar, H Nozaki, S Tiwari, S Vengalil, M Bhat, C Prasad, ... Neurology 89 (23), 2392-2394, 2017 | 21 | 2017 |
Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India RJ Singh, M Manjunath, V Preethish-Kumar, K Polavarapu, S Vengalil, ... Neurology India 66 (1), 77-82, 2018 | 19 | 2018 |
Comparing sleep profiles between patients with juvenile myoclonic epilepsy and symptomatic partial epilepsy: Sleep questionnaire-based study N Saraswati, C Nayak, S Sinha, M Nagappa, K Thennarasu, AB Taly Epilepsy & Behavior 66, 34-38, 2017 | 19 | 2017 |
Neuroimaging in leprosy: the nerves and beyond S Jabeen, J Saini, S Vengalil, M Lavania, I Singh, S Nashi, ... Radiology of Infectious Diseases 7 (1), 12-21, 2020 | 14 | 2020 |
Family caregivers’ experiences with dying and bereavement of individuals with motor neuron disease in India MG Warrier, PT Thomas, A Sadasivan, B Balasubramaniam, S Vengalil, ... Journal of social work in end-of-life & palliative care 15 (2-3), 111-125, 2019 | 14 | 2019 |
In vivo evaluation of white matter abnormalities in children with Duchenne muscular dystrophy using DTI V Preethish-Kumar, A Shah, M Kumar, M Ingalhalikar, K Polavarapu, ... American Journal of Neuroradiology 41 (7), 1271-1278, 2020 | 13 | 2020 |
C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection U Shamim, S Ambawat, J Singh, A Thomas, C Pradeep-Chandra-Reddy, ... Neurobiology of aging 88, 156. e1-156. e9, 2020 | 13 | 2020 |
CASPR2-related morvan syndrome: autonomic, polysomnographic, and neuropsychological observations PS Swayang, A Nalini, V Preethish-Kumar, K Udupa, R Yadav, S Vengalil, ... Neurology: Clinical Practice 11 (3), e267-e276, 2021 | 12 | 2021 |
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome M Bardhan, K Polavarapu, NN Bevinahalli, PK Veeramani, ... Journal of Human Genetics 66 (8), 813-823, 2021 | 11 | 2021 |
Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes–A recognizable clinical phenotype K Polavarapu, S Vengalil, V Preethish-Kumar, G Arunachal, S Nashi, ... European Journal of Paediatric Neurology 31, 54-60, 2021 | 11 | 2021 |