| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 68 | 2021 |
| HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature M Uemura, H Nozaki, T Kato, A Koyama, N Sakai, S Ando, M Kanazawa, ... Frontiers in neurology 11, 545, 2020 | 62 | 2020 |
| 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 |
| Muscle MRI in Duchenne muscular dystrophy: evidence of a distinctive pattern K Polavarapu, M Manjunath, V Preethish-Kumar, D Sekar, S Vengalil, ... Neuromuscular Disorders 26 (11), 768-774, 2016 | 52 | 2016 |
| 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 |
| Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G A Francis, B Sunitha, K Vinodh, K Polavarapu, SK Katkam, S Modi, ... PLoS One 9 (7), e102763, 2014 | 29 | 2014 |
| A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study M Manjunath, P Kiran, V Preethish-Kumar, A Nalini, RJ Singh, N Gayathri Neurology India 63 (1), 58-62, 2015 | 28 | 2015 |
| 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 | 26 | 2020 |
| Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder R Thompson, A Papakonstantinou Ntalis, S Beltran, A Töpf, ... Human Mutation 40 (10), 1797-1812, 2019 | 24 | 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 |
| Reverse split hand syndrome: dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy RJ Singh, V Preethish-Kumar, K Polavarapu, S Vengalil, C Prasad, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18 (1-2), 10-16, 2017 | 24 | 2017 |
| 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 | 23 | 2019 |
| MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India S Deepha, S Vengalil, V Preethish-Kumar, K Polavarapu, A Nalini, ... BMC Medical Genetics 18, 1-10, 2017 | 23 | 2017 |
| 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 | 22 | 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 |
| Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis EP Estephan, AA Zambon, R Thompson, K Polavarapu, D Jomaa, A Töpf, ... European journal of neurology 29 (3), 833-842, 2022 | 20 | 2022 |
| 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 |
