Polavarapu Lab

You can find our most recent publications here - both those coming out of the Polavarapu lab directly and those in collaboration with other research groups. Click the View on PubMed link to view more.
View on PubMed

Pauper, M, Kölbel, H, Karakesisoglou, I, Schänzer, A, Böhm, J, Thompson, R et al.. A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies. Brain Pathol. 2026. e70082 PMID:41776713

Keerthipriya, MS, Kotambail, A, Deekshitha, M, Mahima, R, Ramyashree, MB, Rao, BM et al.. Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India. J Neurol. 2026.273 (1)72 PMID:41511639

Kilicarslan, OA, Gangfuß, A, Hentschel, A, Kölbel, H, Muhmann, D, Töpf, A et al.. A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia. Clin Genet. 2026.109 (5)978-983 PMID:41498167

Yépez, VA, Demidov, G, Ellwanger, K, Laurie, S, Luknárová, R, Joseph Maran, MI et al.. Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Nat Genet. 2026.58 (1)231 PMID:41495481

Aksel Kilicarslan, O, Gangfuß, A, Kölbel, H, Muhmann, D, Polavarapu, K, Thompson, R et al.. Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report. J Clin Med. 2025.14 (24) PMID:41464539

Ratnaike, TE, Kule, ME, Paramonov, I, Matalonga, L, Polavarapu, K, Olimpio, C et al.. A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort. Eur J Hum Genet. 2026.34 (3)395-403 PMID:41454053

Baskar, D, Tumulu, SK, Polavarapu, K, Huddar, A, Unnikrishnan, G, Vengalil, S et al.. Novel muscle MRI features in Desmin related myasthenic myopathy. Neuromuscul Disord. 2026.58 106302 PMID:41406637

Labella, B, Brochier, G, Beuvin, M, Lacene, E, Chanut, A, Madelaine, A et al.. Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review. J Neuromuscul Dis. 2025. 22143602251393910 PMID:41252304

Baskar, D, Polavarapu, K, Kotambail, A, Arunachal, G, Tumulu, SK, Kotra, M et al.. An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India. J Neuromuscul Dis. 2025. 22143602251370589 PMID:41026953

Yépez, VA, Demidov, G, Ellwanger, K, Laurie, S, Luknárová, R, Joseph Maran, MI et al.. The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Nat Genet. 2025.57 (10)2361-2370 PMID:40926087

Harkness, JR, McDermott, JH, Marsden, S, Jamieson, P, Metcalfe, KA, Khan, N et al.. Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series. Lancet Neurol. 2025.24 (8)667-680 PMID:40683276

Laurie, S, Steyaert, W, de Boer, E, Polavarapu, K, Schuermans, N, Sommer, AK et al.. Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med. 2025.31 (8)2819-2820 PMID:40537530

Oommen, AT, Baskar, D, Polavarapu, K, Vengalil, S, Nashi, S, Preethish-Kumar, V et al.. Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India. J Clin Neuromuscul Dis. 2025.26 (4)167-175 PMID:40512964

Arjun, K, Inbaraj, G, Meghana, A, Preethish-Kumar, V, John, AP, Polavarapu, K et al.. Cardiac dysregulation in Duchenne muscular dystrophy: An ECG analysis. J Electrocardiol. 2025.91 154015 PMID:40339309

Vengalil, S, Boddu, V, Kulanthaivelu, K, Baskar, D, Nashi, S, Pruthi, N et al.. In-Depth Understanding of Hirayama Disease: Dural Detachment Beyond Cervical Spine. Ann Indian Acad Neurol. 2025.28 (4)574-578 PMID:40260871

Srivastava, K, Baskar, D, Vengalil, S, Nashi, S, Menon, D, Ganji, SR et al.. Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral Neuropathy. Neurol India. 2025.73 (2)352-355 PMID:40176231

Steyaert, W, Sagath, L, Demidov, G, Yépez, VA, Esteve-Codina, A, Gagneur, J et al.. Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing. Genome Res. 2025.35 (4)755-768 PMID:40138663

Chawla, T, Baskar, D, Polavarapu, K, Preethish-Kumar, V, Nashi, S, Vengalil, S et al.. Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait. Ann Indian Acad Neurol. 2025.28 (2)182-188 PMID:40079678

Baskar, D, Vengalil, S, Polavarapu, K, Preethish-Kumar, V, Nashi, S, Arunachal, G et al.. Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort. J Neuromuscul Dis. 2025.12 (3)364-371 PMID:40033712

Baskar, D, Christopher, R, Arunachal, G, Anudeep, DDS, Mounika, A, Sangeeth, TA et al.. Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum. Glob Med Genet. 2025.12 (2)100036 PMID:40027240

Baskar, D, Ganji, SR, Thomas, A, Polavarapu, K, Nandeesh, BN, Sanka, SB et al.. MICU1 related myopathy - a rare report from India. J Neuromuscul Dis. 2024.11 (6)1295-1299 PMID:39973469

Baskar, D, Thomas, A, Boddu, VK, Santhoshkumar, R, Anjanappa, RM, Nashi, S et al.. A rare case of myopathy with fatigability due to PYROXD1 variation. J Neuromuscul Dis. 2025.12 (2)293-300 PMID:39973409

Malaichamy, S, Idoux, R, Polavarapu, K, Šikić, K, Holla, E, Thompson, R et al.. Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle. Brain. 2025.148 (8)2869-2882 PMID:39970126

Laurie, S, Steyaert, W, de Boer, E, Polavarapu, K, Schuermans, N, Sommer, AK et al.. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med. 2025.31 (2)478-489 PMID:39825153

Neuhoff, K, Kilicarslan, OA, Preuße, C, Zaum, AK, Kölbel, H, Lochmüller, H et al.. Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes. Biomedicines. 2024.12 (12) PMID:39767645

Sridhar, S, Nashi, S, Kulanthaivelu, K, Vengalil, S, Baskar, D, Polavarapu, K et al.. Magnetic resonance imaging in idiopathic inflammatory myopathies: deciphering the pattern of muscle involvement. Neuromuscul Disord. 2025.47 105257 PMID:39756250

Weisburd, B, Sharma, R, Pata, V, Reimand, T, Ganesh, VS, Austin-Tse, C et al.. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets. Genet Med. 2025.27 (4)101336 PMID:39670433

Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C et al.. Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2024. PMID:39658675

Rybalka, E, Park, HJ, Nalini, A, Baskar, D, Polavarapu, K, Durmus, H et al.. Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. Orphanet J Rare Dis. 2024.19 (1)438 PMID:39593137

Kraft, F, Rodriguez-Aliaga, P, Yuan, W, Franken, L, Zajt, K, Hasan, D et al.. Brain malformations and seizures by impaired chaperonin function of TRiC. Science. 2024.386 (6721)516-525 PMID:39480921

Demidov, G, Yaldiz, B, Garcia-Pelaez, J, de Boer, E, Schuermans, N, Van de Vondel, L et al.. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genom Med. 2024.9 (1)49 PMID:39461972

Girija, MS, Menon, D, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Cardiac MRI in Duchenne and Becker Muscular Dystrophy. Ann Indian Acad Neurol. 2024.27 (5)552-557 PMID:39344256

Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C et al.. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2025.33 (2)239-247 PMID:39333429

Johansson, LF, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C et al.. An interconnected data infrastructure to support large-scale rare disease research. Gigascience. 2024.13 PMID:39302238

Baskar, D, Vengalil, S, Polavarapu, K, Preethish-Kumar, V, Arunachal, G, Sukrutha, R et al.. Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy. Glob Med Genet. 2024.11 (4)297-303 PMID:39238562

Baskar, D, Reddy, N, Preethish-Kumar, V, Polavarapu, K, Nishadham, V, Vengalil, S et al.. GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. J Neuromuscul Dis. 2024.11 (5)959-968 PMID:39213088

Chawla, T, Nashi, S, Baskar, D, Polavarapu, K, Vengalil, S, Bardhan, M et al.. Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India. Neurogenetics. 2024.25 (4)435-469 PMID:39103709

Srivastava, K, Arshad, F, Mujawar, WJ, Cranberg, L, Rajeshwaran, J, Afsar, M et al.. Cognitive and Behavioral Profile of Patients with Amyotrophic Lateral Sclerosis Spectrum in the Indian Context. Dement Geriatr Cogn Disord. 2024.53 (6)310-320 PMID:39068922

Baskar, D, Preethish-Kumar, V, Polavarapu, K, Vengalil, S, Nashi, S, Menon, D et al.. Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort. J Neuromuscul Dis. 2024.11 (5)969-979 PMID:39058449

Harikrishna, GV, Padmanabha, H, Polavarapu, K, Anjanappa, RM, Preethish-Kumar, V, Nandeesh, BN et al.. Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India. J Neuromuscul Dis. 2024.11 (5)935-957 PMID:38968056

Natera-de Benito, D, Pugliese, A, Polavarapu, K, Guergueltcheva, V, Tournev, I, Todorova, A et al.. Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases. Pediatr Neurol. 2024.157 5-13 PMID:38833907

Olimpio, C, Paramonov, I, Matalonga, L, Laurie, S, Schon, K, Polavarapu, K et al.. Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. J Neuromuscul Dis. 2024.11 (4)767-775 PMID:38759022

Steyaert, W, Sagath, L, Demidov, G, Yépez, VA, Esteve-Codina, A, Gagneur, J et al.. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv. 2024. PMID:38746462

Bardhan, M, Polavarapu, K, Baskar, D, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy. Glob Med Genet. 2024.11 (2)167-174 PMID:38736558

Polavarapu, K, O'Neil, D, Thompson, R, Spendiff, S, Nandeesh, B, Vengalil, S et al.. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord. 2024.39 10-18 PMID:38669730

Ferreira, T, Polavarapu, K, Olimpio, C, Paramonov, I, Lochmüller, H, Horvath, R et al.. Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. J Neurol. 2024.271 (6)3546-3553 PMID:38549004

Girija, MS, Menon, D, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Qualitative and Quantitative Electrocardiogram Parameters in a Large Cohort of Children with Duchenne Muscle Dystrophy in Comparison with Age-Matched Healthy Subjects: A Study from South India. Ann Indian Acad Neurol. 2024.27 (1)53-57 PMID:38495238

Chawla, T, Reddy, N, Jankar, R, Vengalil, S, Polavarapu, K, Arunachal, G et al.. Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort. Neurol India. 2024.72 (1)83-89 PMID:38443007

Weisburd, B, Sharma, R, Pata, V, Reimand, T, Ganesh, VS, Austin-Tse, C et al.. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv. 2024. PMID:38405995

Baskar, D, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S, Töpf, A et al.. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. Neurol Genet. 2024.10 (1)e200122 PMID:38229919

Nishadham, V, Santhoshkumar, R, Nashi, S, Vengalil, S, Bardhan, M, Polavarapu, K et al.. A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient. J Neuromuscul Dis. 2024.11 (1)221-232 PMID:38108359

Vengalil, S, Pruthi, N, Bhat, D, Uppar, AM, Polavarapu, K, Preethish-Kumar, V et al.. Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients. World Neurosurg. 2024.183 e88-e97 PMID:38006932

Pugliese, A, Della Marina, A, de Paula Estephan, E, Zanoteli, E, Roos, A, Schara-Schmidt, U et al.. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. J Neurol. 2024.271 (3)1331-1341 PMID:37923938

Polavarapu, K, Sunitha, B, Töpf, A, Preethish-Kumar, V, Thompson, R, Vengalil, S et al.. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Brain. 2024.147 (1)281-296 PMID:37721175

Sanga, S, Chakraborty, S, Bardhan, M, Polavarapu, K, Kumar, VP, Bhattacharya, C et al.. Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy. Sci Rep. 2023.13 (1)15095 PMID:37699968

Baskar, D, Veeramani-Kumar, P, Polavarapu, K, Nashi, S, Vengalil, S, Menon, D et al.. Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort. Intern Med J. 2024.54 (3)455-460 PMID:37578398

Baskar, D, Vengalil, S, Nashi, S, Bardhan, M, Srivastava, K, Sanka, SB et al.. MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO). J Neuromuscul Dis. 2023.10 (4)727-730 PMID:37154181

Unnikrishnan, G, Polavarapu, K, Bardhan, M, Nashi, S, Vengalil, S, Preethish-Kumar, V et al.. Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients. J Neuromuscul Dis. 2023.10 (4)615-626 PMID:37154180

Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J et al.. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. Hum Genomics. 2023.17 (1)39 PMID:37138343

Jackson, A, Lin, SJ, Jones, EA, Chandler, KE, Orr, D, Moss, C et al.. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG Adv. 2023.4 (2)100186 PMID:37009414

Manjunath, V, Thenral, SG, Lakshmi, BR, Nalini, A, Bassi, A, Karthikeyan, KP et al.. Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene. Hum Mutat. 2023.2023 4362273 PMID:40225150

Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023.60 (7)4164 PMID:36941504

Inbaraj, G, Arjun, K, Meghana, A, Preethish-Kumar, V, John, AP, Polavarapu, K et al.. Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2023.10 (2)227-238 PMID:36847014

Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH et al.. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023.14 (1)1009 PMID:36823193

Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023.60 (5)2602-2618 PMID:36692708

Denommé-Pichon, AS, Matalonga, L, de Boer, E, Jackson, A, Benetti, E, Banka, S et al.. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genet Med. 2023.25 (4)100018 PMID:36681873

Rodríguez Cruz, PM, Ravenscroft, G, Natera, D, Carr, A, Manzur, A, Liu, WW et al.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. Neuromuscul Disord. 2023.33 (2)161-168 PMID:36634413

Nashi, S, Polavarapu, K, Bardhan, M, Anjanappa, RM, Preethish-Kumar, V, Vengalil, S et al.. Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India. Neurogenetics. 2023.24 (1)43-53 PMID:36580222

Girija, MS, Tiwari, R, Vengalil, S, Nashi, S, Preethish-Kumar, V, Polavarapu, K et al.. PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings. Neurol Res Pract. 2022.4 (1)49 PMID:36210472

Thomas, PT, Warrier, MG, Arun, S, Bhuvaneshwari, B, Vengalil, S, Nashi, S et al.. An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings. Chronic Illn. 2023.19 (2)458-471 PMID:35469482

Nishadham, V, Bardhan, M, Polavarapu, K, Vengalil, S, Nashi, S, Menon, D et al.. Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India. J Neuromuscul Dis. 2022.9 (3)411-422 PMID:35431258

Bardhan, M, Anjanappa, RM, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C. Neurogenetics. 2022.23 (3)187-202 PMID:35416532

Vengalil, S, Polavarapu, K, Preethish-Kumar, V, Nashi, S, Arunachal, G, Chawla, T et al.. Mutation Spectrum of Primary Lipid Storage Myopathies. Ann Indian Acad Neurol. 2022.25 (1)106-113 PMID:35342266

Ganaraja, VH, Polavarapu, K, Bardhan, M, Preethish-Kumar, V, Leena, S, Anjanappa, RM et al.. Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India. Glob Med Genet. 2022.9 (1)34-41 PMID:35169782

Beijer, D, Polavarapu, K, Preethish-Kumar, V, Bardhan, M, Dohrn, MF, Rebelo, A et al.. Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report. J Neuromuscul Dis. 2022.9 (2)347-351 PMID:34897098

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. 2022.9 (2)261-273 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. 2022.145 (4)399-406 PMID:34841512

Hiz Kurul, S, 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. 2022.145 (4)1507-1518 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. 2022.29 (3)833-842 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. 2022.50 (2)286-291 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. 2022.9 (1)95-109 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. 2022.50 (1)131-135 PMID:34609007

Nagabushana, D, Nishamol, T, Bhattacharya, K, Saini, J, Chowdary, R, Mahadevan, A et al.. Anti-N-methyl-D-aspartate-receptor Encephalitis as a Harbinger of Pediatric HIV Infection. J Pediatr Neurosci. 2021.16 (4)327-331 PMID:36531771

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. 2022.269 (4)2113-2125 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

Schüle, R, Timmann, D, Erasmus, CE, Reichbauer, J, Wayand, M, Solve-RD-DITF-RND et al.. Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021.29 (9)1462-1465 PMID:34429526

Matalonga, L, Hernández-Ferrer, C, Piscia, D, Solve-RD SNV-indel working group, Schüle, R, Synofzik, M et al.. Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021.29 (9)1466-1469 PMID:34393220

Zurek, B, Ellwanger, K, Vissers, LELM, Schüle, R, Synofzik, M, Töpf, A et al.. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021.29 (9)1459-1461 PMID:34385672

Polavarapu, K, Mathur, A, Joshi, A, Nashi, S, Preethish-Kumar, V, Bardhan, M et al.. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Neurogenetics. 2021.22 (4)271-285 PMID:34333724

Mhatre, R, Sekar, D, Ponmalar, J, Nagappa, M, Veeramani, PK, Polavarapu, K et al.. Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy. Ann Indian Acad Neurol. 2021.24 (2)198-203 PMID:34220063

Polavarapu, K, Bardhan, M, Anjanappa, RM, Vengalil, S, Preethish-Kumar, V, Shingavi, L et al.. Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review. J Clin Neurol. 2021.17 (3)409-418 PMID:34184449

Santhoshkumar, R, Preethish-Kumar, V, Polavarapu, K, Reghunathan, D, Chaudhari, S, Satyamoorthy, K et al.. A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein. J Mol Neurosci. 2021.71 (12)2468-2473 PMID:34106405

Matalonga, L, Hernández-Ferrer, C, Piscia, D, Solve-RD SNV-indel working group, Schüle, R, Synofzik, M et al.. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021.29 (9)1337-1347 PMID:34075210

Töpf, A, Pyle, A, Griffin, H, Matalonga, L, Schon, K, Solve-RD SNV-indel working group et al.. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021.29 (9)1348-1353 PMID:34075209

Zurek, B, Ellwanger, K, Vissers, LELM, Schüle, R, Synofzik, M, Töpf, A et al.. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021.29 (9)1325-1331 PMID:34075208

Sadasivan, A, Warrier, MG, Polavarapu, K, Preethish-Kumar, V, Nair, MG, Keerthipriya, MS et al.. Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding. Indian J Palliat Care. 2021.27 (1)146-151 PMID:34035633

Schüle, R, Timmann, D, Erasmus, CE, Reichbauer, J, Wayand, M, Solve-RD-DITF-RND et al.. Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021.29 (9)1332-1336 PMID:33972714

Nagabushana, D, Polavarapu, K, Bardhan, M, Arunachal, G, Gunasekaran, S, Preethish-Kumar, V et al.. Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort. J Neuromuscul Dis. 2021.8 (4)525-535 PMID:33843695

Bardhan, M, Polavarapu, K, Bevinahalli, NN, Preethish-Kumar, V, Anjanappa, RM, Arunachal, G et al.. Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. J Hum Genet. 2021.66 (8)841 PMID:33767318

Bardhan, M, Polavarapu, K, Bevinahalli, NN, Veeramani, PK, Anjanappa, RM, Arunachal, G et al.. Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. J Hum Genet. 2021.66 (8)813-823 PMID:33712684

Polavarapu, K, Vengalil, S, Preethish-Kumar, V, Arunachal, G, Nashi, S, Mohan, D et al.. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype. Eur J Paediatr Neurol. 2021.31 54-60 PMID:33631708

Seshagiri, DV, Huddar, A, Nashi, S, Ray, S, Ramaswamy, P, Oommen, AT et al.. Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?. Sleep Med. 2021.79 48-54 PMID:33472130

Chen, Z, Maroofian, R, Başak, AN, Shingavi, L, Karakaya, M, Efthymiou, S et al.. Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. Eur J Neurol. 2021.28 (4)1344-1355 PMID:33220101

Sanga, S, Ghosh, A, Kumar, K, Polavarapu, K, Preethish-Kumar, V, Vengalil, S et al.. Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations. Eur J Neurol. 2021.28 (3)992-1003 PMID:33124102

Varghese, AM, Ghosh, M, Bhagat, SK, Vijayalakshmi, K, Preethish-Kumar, V, Vengalil, S et al.. Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation. J Neuroinflammation. 2020.17 (1)232 PMID:32762702

Uemura, M, Nozaki, H, Kato, T, Koyama, A, Sakai, N, Ando, S et al.. HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature. Front Neurol. 2020.11 545 PMID:32719647

Lithin, Z, Thomas, PT, Warrier, GM, Bhaskar, A, Nashi, S, Vengalil, S et al.. Palliative Care Needs and Care Giver Burden in Neurodegenerative Diseases: A Cross Sectional Study. Ann Indian Acad Neurol. 2020.23 (3)313-317 PMID:32606518

Vengalil, S, Lavania, M, Singh, I, Nashi, S, Preethish-Kumar, V, Polavarapu, K et al.. Appropriately Selected Nerve in Suspected Leprous Neuropathy Yields High Positive Results for Mycobacterium leprae DNA by Polymerase Chain Reaction Method. Am J Trop Med Hyg. 2020.103 (1)209-213 PMID:32285768

Warrier, MG, Sadasivan, A, Polavarapu, K, Kumar, VP, Mahajan, NP, Reddy, CPC et al.. Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis. Indian J Palliat Care. 2020.26 (1)60-65 PMID:32132786

Shamim, U, Ambawat, S, Singh, J, Thomas, A, Pradeep-Chandra-Reddy, C, Suroliya, V et al.. C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection. Neurobiol Aging. 2020.88 156.e1-156.e9 PMID:32035847

Mahajan, NP, Lavania, M, Singh, I, Nashi, S, Preethish-Kumar, V, Vengalil, S et al.. Evidence for Mycobacterium leprae Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India. Am J Trop Med Hyg. 2020.102 (3)547-552 PMID:31933458

Gomez, G, Khanna, M, Gupta, A, Nalini, A, Thennarasu, K, Nashi, S et al.. GNE myopathy - A cross-sectional study on spatio-temporal gait characteristics. Neuromuscul Disord. 2019.29 (12)961-967 PMID:31787465

Sunitha, B, Kumar, M, Gowthami, N, Unni, S, Gayathri, N, Keshava Prasad, TS et al.. Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscle. J Proteomics. 2020.211 103556 PMID:31655151

Balaraju, S, Töpf, A, McMacken, G, Kumar, VP, Pechmann, A, Roper, H et al.. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. Eur J Hum Genet. 2020.28 (3)373-377 PMID:31527857

Warrier, MG, Thomas, PT, Sadasivan, A, Balasubramaniam, B, Vengalil, S, Nashi, S et al.. Family Caregivers' Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India. J Soc Work End Life Palliat Care. 2019.15 (2-3)111-125 PMID:31373263

Thompson, R, Papakonstantinou Ntalis, A, Beltran, S, Töpf, A, de Paula Estephan, E, Polavarapu, K et al.. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Hum Mutat. 2019.40 (10)1797-1812 PMID:31231902

Polavarapu, K, Preethish-Kumar, V, Sekar, D, Vengalil, S, Nashi, S, Mahajan, NP et al.. 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. J Neurol. 2019.266 (9)2177-2185 PMID:31139960

Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S, Lavania, M, Bhattacharya, K et al.. Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study. Am J Trop Med Hyg. 2019.100 (4)921-931 PMID:30761984

Thomas, PT, Warrier, MG, Sadasivan, A, Balasubramanium, B, Preethish-Kumar, V, Nashi, S et al.. Caregiver burden and quality of life of patients with amyotrophic lateral sclerosis in India. Amyotroph Lateral Scler Frontotemporal Degener. 2018.19 (7-8)606-610 PMID:30039719

Preethish-Kumar, V, Polavarapu, K, Nashi, S, Bhattacharya, K, Saini, J, Vengalil, S et al.. Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review. Neurol India. 2018.66 (4)1094-1099 PMID:30038100

Bokoliya, SC, Kumar, VP, Nashi, S, Polavarapu, K, Nalini, A, Patil, SA et al.. Anti-AChR, MuSK, and LRP4 antibodies coexistence: A rare and distinct subtype of myasthenia gravis from Indian subcontinent. Clin Chim Acta. 2018.486 34-35 PMID:30006288

Owen, D, Töpf, A, Preethish-Kumar, V, Lorenzoni, PJ, Vroling, B, Scola, RH et al.. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. Am J Med Genet A. 2018.176 (7)1594-1601 PMID:29704306

Nashi, S, Preethish-Kumar, V, Maji, S, Chandrashekar, N, Polavarapu, K, Kashinkunti, C et al.. Case Report: Neurobrucellosis with Plastered Spinal Arachnoiditis: A Magnetic Resonance Imaging-Based Report. Am J Trop Med Hyg. 2018.98 (3)800-802 PMID:29345223

Singh, RJ, Manjunath, M, Preethish-Kumar, V, Polavarapu, K, Vengalil, S, Thomas, PT et al.. Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India. Neurol India. 2018.66 (1)77-82 PMID:29322964

Preethish-Kumar, V, Nozaki, H, Tiwari, S, Vengalil, S, Bhat, M, Prasad, C et al.. CARASIL families from India with 3 novel null mutations in the HTRA1 gene. Neurology. 2017.89 (23)2392-2394 PMID:29101275

Polavarapu, K, Preethish-Kumar, V, Nashi, S, Vengalil, S, Prasad, C, Bhattacharya, K et al.. Intrafamilial phenotypic variations in familial cases of cervical flexion induced myelopathy/Hirayama disease. Amyotroph Lateral Scler Frontotemporal Degener. 2018.19 (1-2)38-49 PMID:28938856

Vengalil, S, Preethish-Kumar, V, Polavarapu, K, Christopher, R, Gayathri, N, Natarajan, A et al.. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome. Neuromuscul Disord. 2017.27 (11)986-996 PMID:28927828

Nalini, A, Polavarapu, K, Preethish-Kumar, V. Muscular dystrophies: An Indian scenario. Neurol India. 2017.65 (5)969-970 PMID:28879877

Deepha, S, Vengalil, S, Preethish-Kumar, V, Polavarapu, K, Nalini, A, Gayathri, N et al.. MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India. BMC Med Genet. 2017.18 (1)67 PMID:28610567

Preethish-Kumar, V, Vengalil, S, Tiwari, S, Polavarapu, K, Netravathi, M, Ramalingaiah, AH et al.. Ventral longitudinal intraspinal fluid collection: Rare presentation as brachial amyotrophy and intracranial hypotension. J Spinal Cord Med. 2019.42 (1)45-50 PMID:28402198

Vengalil, S, Preethish-Kumar, V, Polavarapu, K, Mahadevappa, M, Sekar, D, Purushottam, M et al.. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. J Clin Neurol. 2017.13 (1)91-97 PMID:28079318

Polavarapu, K, Manjunath, M, Preethish-Kumar, V, Sekar, D, Vengalil, S, Thomas, P et al.. Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern. Neuromuscul Disord. 2016.26 (11)768-774 PMID:27666775

Singh, RJ, Preethish-Kumar, V, Polavarapu, K, Vengalil, S, Prasad, C, Nalini, A et al.. Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy. Amyotroph Lateral Scler Frontotemporal Degener. 2017.18 (1-2)10-16 PMID:27575868

Preethish-Kumar, V, Polavarapu, K, Singh, RJ, Vengalil, S, Prasad, C, Verma, A et al.. Proximal and proximo-distal bimelic amyotrophy: Evidence of cervical flexion induced myelopathy. Amyotroph Lateral Scler Frontotemporal Degener. 2016.17 (7-8)499-507 PMID:27050119

Nalini, A, Polavarapu, K, Sunitha, B, Kulkarni, S, Gayathri, N, Srinivas Bharath, MM et al.. A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India. Neurol India. 2015.63 (4)548-60 PMID:26238890

Preethish-Kumar, V, Nalini, A, Singh, RJ, Saini, J, Prasad, C, Polavarapu, K et al.. Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease. Amyotroph Lateral Scler Frontotemporal Degener. 2015.16 (5-6)338-44 PMID:25967543

Francis, A, Sunitha, B, Vinodh, K, Polavarapu, K, Katkam, SK, Modi, S et al.. Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. PLoS One. 2014.9 (7)e102763 PMID:25055047