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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. Stray-Pedersen A, et al. Among authors: kruger m. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S. Fuchs S, et al. Among authors: kruger m. Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19. Blood. 2015. PMID: 26289640 Free PMC article.
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.
Schorling DC, Rost S, Lefeber DJ, Brady L, Müller CR, Korinthenberg R, Tarnopolsky M, Bönnemann CG, Rodenburg RJ, Bugiani M, Beytia M, Krüger M, van der Knaap M, Kirschner J. Schorling DC, et al. Among authors: kruger m. Neurology. 2017 Aug 15;89(7):657-664. doi: 10.1212/WNL.0000000000004234. Epub 2017 Jul 21. Neurology. 2017. PMID: 28733338 Free PMC article.
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bönnemann CG. Donkervoort S, et al. Among authors: kruger m. Ann Neurol. 2015 Dec;78(6):982-994. doi: 10.1002/ana.24535. Epub 2015 Nov 13. Ann Neurol. 2015. PMID: 26418456 Free PMC article.
First Measurement of the |t| Dependence of Incoherent J/ψ Photonuclear Production.
Acharya S, Adamová D, Adler A, Aglieri Rinella G, Agnello M, Agrawal N, Ahammed Z, Ahmad S, Ahn SU, Ahuja I, Akindinov A, Al-Turany M, Aleksandrov D, Alessandro B, Alfanda HM, Alfaro Molina R, Ali B, Alici A, Alizadehvandchali N, Alkin A, Alme J, Alocco G, Alt T, Altamura AR, Altsybeev I, Alvarado JR, Anaam MN, Andrei C, Andronic A, Anguelov V, Antinori F, Antonioli P, Apadula N, Aphecetche L, Appelshäuser H, Arata C, Arcelli S, Aresti M, Arnaldi R, Arneiro JGMCA, Arsene IC, Arslandok M, Augustinus A, Averbeck R, Azmi MD, Baba H, Badalà A, Bae J, Baek YW, Bai X, Bailhache R, Bailung Y, Balbino A, Baldisseri A, Balis B, Banerjee D, Banoo Z, Barbera R, Barile F, Barioglio L, Barlou M, Barnaföldi GG, Barnby LS, Barret V, Barreto L, Bartels C, Barth K, Bartsch E, Bastid N, Basu S, Batigne G, Battistini D, Batyunya B, Bauri D, Bazo Alba JL, Bearden IG, Beattie C, Becht P, Behera D, Belikov I, Bell Hechavarria ADC, Bellini F, Bellwied R, Belokurova S, Bencedi G, Beole S, Bercuci A, Berdnikov Y, Berdnikova A, Bergmann L, Besoiu MG, Betev L, Bhaduri PP, Bhasin A, Bhat MA, Bhattacharjee B, Bianchi L, Bianchi N, Bielčík J, Bielčíková J, Biernat J, Bigot AP, Bilandzic A, Biro G, Biswas S, Bi… See abstract for full author list ➔ Acharya S, et al. Among authors: kruger m. Phys Rev Lett. 2024 Apr 19;132(16):162302. doi: 10.1103/PhysRevLett.132.162302. Phys Rev Lett. 2024. PMID: 38701458
TANGO1 inhibitors reduce collagen secretion and limit tissue scarring.
Raote I, Rosendahl AH, Häkkinen HM, Vibe C, Küçükaylak I, Sawant M, Keufgens L, Frommelt P, Halwas K, Broadbent K, Cunquero M, Castro G, Villemeur M, Nüchel J, Bornikoel A, Dam B, Zirmire RK, Kiran R, Carolis C, Andilla J, Loza-Alvarez P, Ruprecht V, Jamora C, Campelo F, Krüger M, Hammerschmidt M, Eckes B, Neundorf I, Krieg T, Malhotra V. Raote I, et al. Among authors: kruger m. Nat Commun. 2024 Apr 24;15(1):3302. doi: 10.1038/s41467-024-47004-1. Nat Commun. 2024. PMID: 38658535 Free PMC article.
A comparison of Simplified Acute Physiology Score II and Sepsis-related Organ Failure Assessment Score for prediction of mortality after Intensive Care Unit cardiac arrest.
Jansen G, Entz S, Holland FO, Lamprinaki S, Thies KC, Borgstedt R, Krüger M, Abu-Tair M, May TW, Rehberg S. Jansen G, et al. Among authors: kruger m. Minerva Anestesiol. 2024 Apr 24. doi: 10.23736/S0375-9393.24.17825-X. Online ahead of print. Minerva Anestesiol. 2024. PMID: 38656085
The Effects of GreenShell Mussel Powder (Brand-Named PERNAULTRA) on Physical Performance and Subjective Pain, Symptoms, and Function Measures in Knee Osteoarthritis: A 6-Mo Randomized, Double-Blind, Placebo-Controlled Trial.
Slade CA, Kruger MC, Miller MR, Mazahery H, Beck KL, Conlon CA, von Hurst PR. Slade CA, et al. Among authors: kruger mc. Curr Dev Nutr. 2024 Mar 27;8(4):102148. doi: 10.1016/j.cdnut.2024.102148. eCollection 2024 Apr. Curr Dev Nutr. 2024. PMID: 38645882 Free PMC article.
1,565 results