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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Hum Mutat. 2017 May;38(5):511-516. doi: 10.1002/humu.23196. Epub 2017 Mar 6.
Hum Mutat. 2017.
PMID: 28185376
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL.
Fasham J, et al. Among authors: kussman j.
Genet Med. 2022 Mar;24(3):631-644. doi: 10.1016/j.gim.2021.10.014. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906488
Free PMC article.
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Two phase 3 trials of bapineuzumab in mild-to-moderate Alzheimer's disease.
Salloway S, Sperling R, Fox NC, Blennow K, Klunk W, Raskind M, Sabbagh M, Honig LS, Porsteinsson AP, Ferris S, Reichert M, Ketter N, Nejadnik B, Guenzler V, Miloslavsky M, Wang D, Lu Y, Lull J, Tudor IC, Liu E, Grundman M, Yuen E, Black R, Brashear HR; Bapineuzumab 301 and 302 Clinical Trial Investigators.
Salloway S, et al.
N Engl J Med. 2014 Jan 23;370(4):322-33. doi: 10.1056/NEJMoa1304839.
N Engl J Med. 2014.
PMID: 24450891
Free PMC article.
Clinical Trial.
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Symptom reporting in cancer patients: the role of negative affect and experienced social stigma.
Koller M, Kussman J, Lorenz W, Jenkins M, Voss M, Arens E, Richter E, Rothmund M.
Koller M, et al. Among authors: kussman j.
Cancer. 1996 Mar 1;77(5):983-95. doi: 10.1002/(sici)1097-0142(19960301)77:5<983::aid-cncr27>3.0.co;2-z.
Cancer. 1996.
PMID: 8608494
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