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PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: singh rr. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Snapping ankles: peroneal tendon subluxation and dislocation.
Hosack T, Perkins O, Bleibleh S, Singh R. Hosack T, et al. Br J Hosp Med (Lond). 2023 Oct 2;84(10):1-7. doi: 10.12968/hmed.2022.0257. Epub 2023 Sep 29. Br J Hosp Med (Lond). 2023. PMID: 37906073 Free article. Review.
Fast skeletal myosin binding protein-C expression exacerbates dysfunction in heart failure.
McNamara JW, Song T, Alam P, Binek A, Singh RR, Nieman ML, Koch SE, Ivey MJ, Lynch TL, Rubinstein J, Jin JP, Lorenz JN, Van Eyk JE, Kanisicak O, Sadayappan S. McNamara JW, et al. Among authors: singh rr. bioRxiv [Preprint]. 2024 May 3:2024.04.30.591979. doi: 10.1101/2024.04.30.591979. bioRxiv. 2024. PMID: 38746225 Free PMC article. Preprint.
Endoscopic Ultrasound-Guided vs Endoscopic Retrograde Cholangiopancreatography-Guided Biliary Drainage as Primary Approach to Malignant Distal Biliary Obstruction: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Gopakumar H, Singh RR, Revanur V, Kandula R, Puli SR. Gopakumar H, et al. Among authors: singh rr. Am J Gastroenterol. 2024 Mar 25. doi: 10.14309/ajg.0000000000002736. Online ahead of print. Am J Gastroenterol. 2024. PMID: 38421018
CLN3 deficiency leads to neurological and metabolic perturbations during early development.
Heins-Marroquin U, Singh RR, Perathoner S, Gavotto F, Merino Ruiz C, Patraskaki M, Gomez-Giro G, Kleine Borgmann F, Meyer M, Carpentier A, Warmoes MO, Jäger C, Mittelbronn M, Schwamborn JC, Cordero-Maldonado ML, Crawford AD, Schymanski EL, Linster CL. Heins-Marroquin U, et al. Among authors: singh rr. Life Sci Alliance. 2024 Jan 9;7(3):e202302057. doi: 10.26508/lsa.202302057. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38195117 Free PMC article.
589 results