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Items: 8

1.

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.

Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.

PMID:
29498452
2.

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

Malfatti E, Monges S, Lehtokari VL, Schaeffer U, Abath Neto O, Kiiski K, Lubieniecki F, Taratuto AL, Wallgren-Pettersson C, Laporte J, Romero NB.

Eur J Med Genet. 2015 Oct;58(10):556-61. doi: 10.1016/j.ejmg.2015.09.009. Epub 2015 Sep 25.

PMID:
26403434
3.

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.

J Neuromuscul Dis. 2015 Sep 21;2(4):433-438.

4.

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K.

Eur J Hum Genet. 2016 Apr;24(4):574-80. doi: 10.1038/ejhg.2015.166. Epub 2015 Jul 22.

5.

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Pelin K, Kiiski K, Lehtokari VL, Wallgren-Pettersson C.

J Hum Genet. 2015 Mar;60(3):161-2. doi: 10.1038/jhg.2014.120. Epub 2015 Jan 15. No abstract available.

PMID:
25589043
6.

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.

Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693.

7.

Prenatal diagnosis of 17p13.1p13.3 duplication.

Kiiski K, Roovere T, Zordania R, von Koskull H, Horelli-Kuitunen N.

Case Rep Med. 2012;2012:840538. doi: 10.1155/2012/840538. Epub 2012 Oct 17.

8.

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes.

Kiiski K, Laari L, Lehtokari VL, Lunkka-Hytönen M, Angelini C, Petty R, Hackman P, Wallgren-Pettersson C, Pelin K.

Neuromuscul Disord. 2013 Jan;23(1):56-65. doi: 10.1016/j.nmd.2012.07.007. Epub 2012 Sep 23.

PMID:
23010307

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