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Serum miRNAs as biomarkers for the rare types of muscular dystrophy.
Koutsoulidou A, Koutalianos D, Georgiou K, Kakouri AC, Oulas A, Tomazou M, Kyriakides TC, Roos A, Papadimas GK, Papadopoulos C, Kararizou E, Spyrou GM, Zamba Papanicolaou E, Lochmüller H, Phylactou LA. Koutsoulidou A, et al. Among authors: roos a. Neuromuscul Disord. 2022 Apr;32(4):332-346. doi: 10.1016/j.nmd.2022.03.003. Epub 2022 Mar 11. Neuromuscul Disord. 2022. PMID: 35393236 Free article.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Wiessner M, et al. Among authors: roos a. Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190456 Free PMC article.
Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies.
Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili-Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A. Spitali P, et al. Among authors: roos a. J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):715-726. doi: 10.1002/jcsm.12304. Epub 2018 Apr 16. J Cachexia Sarcopenia Muscle. 2018. PMID: 29682908 Free PMC article.
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Issop Y, et al. Among authors: roos a. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. Hum Mol Genet. 2018. PMID: 29905857 Free PMC article.
Biochemical and pathological changes result from mutated Caveolin-3 in muscle.
González Coraspe JA, Weis J, Anderson ME, Münchberg U, Lorenz K, Buchkremer S, Carr S, Zahedi RP, Brauers E, Michels H, Sunada Y, Lochmüller H, Campbell KP, Freier E, Hathazi D, Roos A. González Coraspe JA, et al. Among authors: roos a. Skelet Muscle. 2018 Aug 28;8(1):28. doi: 10.1186/s13395-018-0173-y. Skelet Muscle. 2018. PMID: 30153853 Free PMC article.
1,631 results