Sagath L - Search Results

1

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Moreau-Le Lan S, Aller E, Calabria I, Gonzalez-Tarancon L, Cardona-Gay C, Martinez-Matilla M, Aparisi MJ, Selles J, Sagath L, Pitarch I, Muelas N, Cervera JV, Millan JM, Pedrola L. Moreau-Le Lan S, et al. Among authors: sagath l. PLoS One. 2018 Dec 5;13(12):e0207296. doi: 10.1371/journal.pone.0207296. eCollection 2018. PLoS One. 2018. PMID: 30517146 Free PMC article.

2

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: sagath l. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26. Eur J Neurol. 2018. PMID: 29498452

3

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B. Kiiski KJ, et al. Among authors: sagath lj. Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20. Neuromuscul Disord. 2019. PMID: 30679003

4

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.

Sagath L, Lehtokari VL, Välipakka S, Vihola A, Gardberg M, Hackman P, Pelin K, Jokela M, Kiiski K, Udd B, Wallgren-Pettersson C. Sagath L, et al. Neuromuscul Disord. 2021 Jun;31(6):539-545. doi: 10.1016/j.nmd.2021.03.006. Epub 2021 Mar 23. Neuromuscul Disord. 2021. PMID: 33933294

5

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.

Sagath L, Lehtokari VL, Wallgren-Pettersson C, Pelin K, Kiiski K. Sagath L, et al. PLoS One. 2022 May 16;17(5):e0267793. doi: 10.1371/journal.pone.0267793. eCollection 2022. PLoS One. 2022. PMID: 35576196 Free PMC article.

6

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.

Pelin K, Sagath L, Lehtonen J, Kiiski K, Tynninen O, Paetau A, Johari M, Savarese M, Wallgren-Pettersson C, Lehtokari VL. Pelin K, et al. Among authors: sagath l. J Neuromuscul Dis. 2023;10(5):977-984. doi: 10.3233/JND-230026. J Neuromuscul Dis. 2023. PMID: 37393515 Free PMC article.

7

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K. Sagath L, et al. J Neuromuscul Dis. 2018;5(3):307-314. doi: 10.3233/JND-170298. J Neuromuscul Dis. 2018. PMID: 30040739 Free PMC article.

8

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region.

Laitila J, Lehtonen J, Lehtokari VL, Sagath L, Wallgren-Pettersson C, Grönholm M, Pelin K. Laitila J, et al. Among authors: sagath l. Muscle Nerve. 2019 Jan;59(1):116-121. doi: 10.1002/mus.26350. Epub 2018 Nov 13. Muscle Nerve. 2019. PMID: 30265400

9

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.

Välipakka S, Savarese M, Sagath L, Arumilli M, Giugliano T, Udd B, Hackman P. Välipakka S, et al. Among authors: sagath l. J Mol Diagn. 2020 Jan;22(1):40-49. doi: 10.1016/j.jmoldx.2019.08.009. Epub 2019 Nov 13. J Mol Diagn. 2020. PMID: 31733349 Free article.

10

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region.

Sagath L, Lehtokari VL, Pelin K, Kiiski K. Sagath L, et al. Genes (Basel). 2022 May 19;13(5):905. doi: 10.3390/genes13050905. Genes (Basel). 2022. PMID: 35627290 Free PMC article.

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