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Journal of Neurology|May 30, 2019
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 cohortKiran Polavarapu, Veeramani Preethish-Kumar, Deepha Sekar, et al.Brain : a Journal of Neurology|September 18, 2023
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohortKiran Polavarapu, Balaraju Sunitha, Ana Töpf, et al.European Journal of Neurology|November 21, 2020
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathiesZhongbo Chen, Reza Maroofian, A Nazlı Başak, et al.Human Mutation|April 14, 2025
Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB GeneV Manjunath, S G Thenral, B R Lakshmi, et al.Journal of Neurology|July 1, 2026
Genome-wide spectrum of coding DNA variations in Indian patients with amyotrophic lateral sclerosisAnanthapadmanabha Kotambail, Gautham Arunachal, Muddasu Suhasini Keerthipriya, et al.Neurobiology of Aging|February 10, 2020
C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilectionUzma Shamim, Sakshi Ambawat, Jyotsna Singh, et al.European Journal of Human Genetics : EJHG|September 27, 2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseasesBerta Estévez-Arias, Leslie Matalonga, Delia Yubero, et al.World Neurosurgery|November 25, 2023
Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian PatientsSeena Vengalil, Nupur Pruthi, Dhananjay Bhat, et al.Brain : a Journal of Neurology|February 19, 2025
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscleSivasankar Malaichamy, Romane Idoux, Kiran Polavarapu, et al.Journal of Neuromuscular Diseases|November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic reviewBeatrice Labella, Guy Brochier, Maud Beuvin, et al.Pageof 12