| 1 | NEB, NEM2
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| Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
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| Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F.
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| Eur J Hum Genet 21(11):1249-52. doi: 10.1038/ejhg.2013.31. Epub 2013 Feb 27.
2013
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| 2 | NEB, NEM2
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| Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene.
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| Gajda A, Horváth E, Hortobágyi T, Gergev G, Szabó H, Farkas K, Nagy N, Széll M, Sztriha L.
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| J Child Neurol Child Neurol. 2013 Sep 20. [Epub ahead of print]
2013
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| 3 | NEB, NEM2
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| Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
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| 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.
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| Neuromuscul Disord 21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.
2011
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| 4 | NEB, NEM2
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| The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
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| Lehtokari VL, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C.
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| Neuromuscul Disord 19(3):179-81. Epub 2009 Feb 15.
2009
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| 5 | NEB, NEM2
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| Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
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| Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H.
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| Hum Mol Genet 18(13):2359-69. Epub 2009 Apr 4.
2009
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| 6 | NEB, NEM2
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| Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
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| 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.
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| Hum Mutat 27(9):946-56. 2006
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| 7 | CTSS, NEB, NEM2
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| Cathepsin s promotes human preadipocyte differentiation: possible involvement of fibronectin degradation.
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| Taleb S, Cancello R, Clment K, Lacasa D.
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| Endocrinology 147(10):4950-9. Epub 2006 Jul 6. 2006
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| 8 | NEM1, NEM2, NEM3, NEM4, NEM5
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| Molecular classification of nemaline myopathies: nontyping specimens exhibit unique patterns of gene expression.
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| Sanoudou D, Frieden LA, Haslett JN, Kho AT, Greenberg SA, Kohane IS, Kunkel LM, Beggs AH.
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| Neurobiol Dis 15(3):590-600. 2004
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| 9 | NEM2, NEB
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| Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
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| Anderson SL, Ekstein J, Donnelly MC, Keefe EM, Toto NR, LeVoci LA, Rubin BY.
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| Hum Genet 115(3):185-90. Epub 2004 Jun 23. 2004
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| 10 | NEB, NEM2
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| Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.
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| Gurgel-Giannetti J, Bang ML, Reed U, Marie S, Zatz M, Labeit S, Vainzof M.
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| Muscle Nerve 25(5):747-52. 2002
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| 11 | NEB, NEM2
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| Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
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| Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni F.
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| Neuromuscul Disord 11(2):146-53. 2001
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| 12 | NEB, NEM2
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| Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
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| Pelin K, et al.
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| Proc Natl Acad Sci U S A 96(5):2305-10. 1999
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| 13 | NEM1, NEM2
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| Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
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| North KN, Laing NG, Wallgren-Pettersson C.
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| J Med Genet 34(9):705-13. 1997
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| 14 | NEM2
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| A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.
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| Wallgren-Pettersson C, et al.
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| Neuromuscul Disord 5 : 441-443. 1995
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