The Neuromuscular Disease Network for Canada


Kiran Polavarapu

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Post Doctoral Fellow, Lochmüller Lab, CHEO-RI

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Research Interests: Inherited Neuromuscular diseases, Neurogenetics, Next generation sequencing (NGS) analysis, Neuromuscular junction disorders, Primary Muscle disorders, Muscular dystrophies, Congenital myopathies

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Dr. Kiran Polavarapu completed his PhD in 2019 at the National Institute of Mental Health and Neurosciences (NIMHANS) in India. He is an M.B.B.S (Bachelor of Medicine and Bachelor of Surgery) graduate who shifted his focus to research in neuromuscular disorders and neurogenetics. His PhD work involved developing next generation sequencing (NGS)-based tests for detection of both copy number variations and point mutations in Duchenne Muscular Dystrophy. He further worked on analysing NGS data and genotype-phenotype correlations of various inherited neuromuscular disorders in India including Limb-Girdle Muscular Dystrophy, congenital myopathies, hereditary neuropathies, and Congenital Myasthenic Syndrome. He was part of a monthly neuromuscular disease specialty clinic run by Professor Atchayaram Nalini (neuromuscular specialist) at NIMHANS and was involved in clinical evaluation and genetic counselling of patients with inherited neuromuscular disorders. His research interest is in primary muscle disorders and neuromuscular genetics. He recently joined the Lochmüller Lab as a postdoctoral fellow and is looking forward to continuing research in neuromuscular genetics and Congenital Myasthenic Syndrome.

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Recent publications

Chawla, T, Preethish-Kumar, V, Polavarapu, K, Vengalil, S, Bardhan, M, Puri, R et al.. Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes. J Neuromuscul Dis. 2021. PMID:34864681

Arshad, F, Vengalil, S, Nalini, A, Polavarapu, K, Shamim, U, Jabeen, S et al.. Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome. Acta Neurol Scand. 2021. PMID:34841512

Kurul, SH, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A et al.. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain. 2021. PMID:34791078

Estephan, EP, Zambon, AA, Thompson, R, Polavarapu, K, Jomaa, D, Töpf, A et al.. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. Eur J Neurol. 2021. PMID:34749429

Huddar, A, Polavarapu, K, Preethish-Kumar, V, Bardhan, M, Unnikrishnan, G, Nashi, S et al.. Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis. Children (Basel). 2021.8 (10) PMID:34682174

Rajula, RR, Saini, J, Unnikrishnan, G, Vengalil, S, Nashi, S, Bardhan, M et al.. Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis. J Clin Ultrasound. 2021. PMID:34653263

Siddiqui, S, Polavarapu, K, Bardhan, M, Preethish-Kumar, V, Joshi, A, Nashi, S et al.. Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation. J Neuromuscul Dis. 2021. PMID:34633329

Rajula, RR, Saini, J, Unnikrishnan, G, Vengalil, S, Nashi, S, Bardhan, M et al.. Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis. J Clin Ultrasound. 2021. PMID:34609007

Preethish-Kumar, V, Shah, A, Polavarapu, K, Kumar, M, Safai, A, Vengalil, S et al.. Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform. J Neurol. 2021. PMID:34505932

Swayang, PS, Nalini, A, Preethish-Kumar, V, Udupa, K, Yadav, R, Vengalil, S et al.. CASPR2-Related Morvan Syndrome: Autonomic, Polysomnographic, and Neuropsychological Observations. Neurol Clin Pract. 2021.11 (3)e267-e276 PMID:34484901

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