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Items: 1 to 20 of 31

1.

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.

Ramirez-Martinez A, Cenik BK, Bezprozvannaya S, Chen B, Bassel-Duby R, Liu N, Olson EN.

Elife. 2017 Aug 9;6. pii: e26439. doi: 10.7554/eLife.26439.

2.

A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits.

Guzmán YF, Ramsey K, Stolz JR, Craig DW, Huentelman MJ, Narayanan V, Swanson GT.

Neurol Genet. 2017 Jan 31;3(1):e129. doi: 10.1212/NXG.0000000000000129. eCollection 2017 Feb.

3.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G.

Orphanet J Rare Dis. 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0.

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.

Clinical utility gene card for: Nemaline myopathy - update 2015.

Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG.

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.12. Epub 2015 Feb 25. No abstract available.

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.

The nebulin repeat protein Lasp regulates I-band architecture and filament spacing in myofibrils.

Fernandes I, Schöck F.

J Cell Biol. 2014 Aug 18;206(4):559-72. doi: 10.1083/jcb.201401094. Epub 2014 Aug 11.

8.

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

Marttila M, Hanif M, Lemola E, Nowak KJ, Laitila J, Grönholm M, Wallgren-Pettersson C, Pelin K.

Skelet Muscle. 2014 Aug 1;4:15. doi: 10.1186/2044-5040-4-15. eCollection 2014.

9.

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.

Garg A, O'Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson EN.

J Clin Invest. 2014 Aug;124(8):3529-39. doi: 10.1172/JCI74994. Epub 2014 Jun 24.

10.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB.

Acta Neuropathol Commun. 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44.

11.

Approach to the diagnosis of congenital myopathies.

North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies.

Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18.

12.

The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.

Yamamoto DL, Vitiello C, Zhang J, Gokhin DS, Castaldi A, Coulis G, Piaser F, Filomena MC, Eggenhuizen PJ, Kunderfranco P, Camerini S, Takano K, Endo T, Crescenzi M, Luther PK, Lieber RL, Chen J, Bang ML.

J Cell Sci. 2013 Dec 1;126(Pt 23):5477-89. doi: 10.1242/jcs.137026. Epub 2013 Sep 17.

13.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.

Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.

14.

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.

Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H.

Brain. 2013 Jun;136(Pt 6):1718-31. doi: 10.1093/brain/awt113. Epub 2013 May 28.

15.

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F.

Eur J Hum Genet. 2013 Nov;21(11):1249-52. doi: 10.1038/ejhg.2013.31. Epub 2013 Feb 27.

16.

Clinical utility gene card for: nemaline myopathy.

Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG.

Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.70. Epub 2012 Apr 18. No abstract available.

17.

The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization.

Ottenheijm CA, Granzier H, Labeit S.

Front Physiol. 2012 Feb 27;3:37. doi: 10.3389/fphys.2012.00037. eCollection 2012.

18.

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

Telfer WR, Nelson DD, Waugh T, Brooks SV, Dowling JJ.

Dis Model Mech. 2012 May;5(3):389-96. doi: 10.1242/dmm.008631. Epub 2011 Dec 12.

19.

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH.

Skelet Muscle. 2011 Jun 20;1(1):23. doi: 10.1186/2044-5040-1-23.

20.

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

Ochala J, Lehtokari VL, Iwamoto H, Li M, Feng HZ, Jin JP, Yagi N, Wallgren-Pettersson C, Pénisson-Besnier I, Larsson L.

FASEB J. 2011 Jun;25(6):1903-13. doi: 10.1096/fj.10-176727. Epub 2011 Feb 24.

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