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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Töpf A, Helito PVP, Heise CO, Moreno CAM, Silva AMS, Kouyoumdjian JA, Morita MDP, Reed UC, Lochmüller H, Zanoteli E. Estephan EP, et al. Among authors: polavarapu k. Eur J Neurol. 2022 Mar;29(3):833-842. doi: 10.1111/ene.15173. Epub 2021 Nov 17. Eur J Neurol. 2022. PMID: 34749429
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Francis A, Sunitha B, Vinodh K, Polavarapu K, Katkam SK, Modi S, Bharath MM, Gayathri N, Nalini A, Thangaraj K. Francis A, et al. Among authors: polavarapu k. PLoS One. 2014 Jul 23;9(7):e102763. doi: 10.1371/journal.pone.0102763. eCollection 2014. PLoS One. 2014. PMID: 25055047 Free PMC article.
Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease.
Preethish-Kumar V, Nalini A, Singh RJ, Saini J, Prasad C, Polavarapu K, Thennarasu K. Preethish-Kumar V, et al. Among authors: polavarapu k. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):338-44. doi: 10.3109/21678421.2015.1039546. Epub 2015 May 12. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25967543
123 results