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Items: 1 to 20 of 75

1.

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

Feingold-Zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D, Maymon R, Pillar N, Reish O.

Prenat Diagn. 2017 Feb;37(2):144-150. doi: 10.1002/pd.4977. Epub 2017 Jan 25.

PMID:
27933661
2.

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP.

J Mol Neurosci. 2016 Jul;59(3):351-9. doi: 10.1007/s12031-016-0739-2. Epub 2016 Apr 22.

PMID:
27105866
3.

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
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.

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M.

Neuromuscul Disord. 2015 May;25(5):392-6. doi: 10.1016/j.nmd.2015.01.013. Epub 2015 Feb 3.

PMID:
25740301
6.

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.

Jin HS, Lee JB, Kim K, Lee KY, Choi VN, Kim JS, Jeong SY, Yim SY.

J Hum Genet. 2014 Dec;59(12):643-7. doi: 10.1038/jhg.2014.87. Epub 2014 Oct 9.

PMID:
25296583
7.

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.

8.

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.

9.

Expression of multiple nebulin isoforms in human skeletal muscle and brain.

Laitila J, Hanif M, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K.

Muscle Nerve. 2012 Nov;46(5):730-7. doi: 10.1002/mus.23380. Epub 2012 Aug 31.

PMID:
22941678
10.

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E.

Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905.

PMID:
22367672
11.

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C.

Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.

PMID:
21724397
12.

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.

13.

Nebulin regulates actin filament lengths by a stabilization mechanism.

Pappas CT, Krieg PA, Gregorio CC.

J Cell Biol. 2010 May 31;189(5):859-70. doi: 10.1083/jcb.201001043. Epub 2010 May 24.

14.

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs AH, Granzier H.

J Struct Biol. 2010 May;170(2):334-43. doi: 10.1016/j.jsb.2009.11.013. Epub 2009 Nov 26.

15.

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

Lehtokari VL, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C.

Neuromuscul Disord. 2009 Mar;19(3):179-81. doi: 10.1016/j.nmd.2008.12.001. Epub 2009 Feb 15.

16.

Targeting of nebulin fragments to the cardiac sarcomere.

Panaviene Z, Deng XA, Esham M, Moncman CL.

Exp Cell Res. 2007 Mar 10;313(5):896-909. Epub 2006 Dec 30.

PMID:
17275809
17.

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C.

Hum Mutat. 2006 Sep;27(9):946-56.

PMID:
16917880
18.

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

Donner K, Sandbacka M, Lehtokari VL, Wallgren-Pettersson C, Pelin K.

Eur J Hum Genet. 2004 Sep;12(9):744-51.

19.

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

Anderson SL, Ekstein J, Donnelly MC, Keefe EM, Toto NR, LeVoci LA, Rubin BY.

Hum Genet. 2004 Aug;115(3):185-90. Epub 2004 Jun 23.

PMID:
15221447
20.

Nebulin: the nebulous, multifunctional giant of striated muscle.

McElhinny AS, Kazmierski ST, Labeit S, Gregorio CC.

Trends Cardiovasc Med. 2003 Jul;13(5):195-201. Review.

PMID:
12837582

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