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Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: kiiski k. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy.
Kiiski K, Lehtokari VL, Manzur AY, Sewry C, Zaharieva I, Muntoni F, Pelin K, Wallgren-Pettersson C. Kiiski K, et al. J Neuromuscul Dis. 2015 Sep 21;2(4):433-438. doi: 10.3233/JND-150107. J Neuromuscul Dis. 2015. PMID: 27858751 Free PMC article.
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.
Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H. Nilipour Y, et al. Among authors: kiiski k. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26. Eur J Neurol. 2018. PMID: 29498452
Copy number variation analysis increases the diagnostic yield in muscle diseases.
Välipakka S, Savarese M, Johari M, Sagath L, Arumilli M, Kiiski K, Sáenz A, de Munain AL, Cobo AM, Pelin K, Udd B, Hackman P. Välipakka S, et al. Among authors: kiiski k. Neurol Genet. 2017 Dec 11;3(6):e204. doi: 10.1212/NXG.0000000000000204. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 30238059 Free PMC article.
17 results