Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 132

1.

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

North KN, Laing NG, Wallgren-Pettersson C.

J Med Genet. 1997 Sep;34(9):705-13. Review. No abstract available. Erratum in: J Med Genet 1997 Oct;34(10):879.

2.

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

Wallgren-Pettersson C, Laing NG.

Neuromuscul Disord. 2000 Jun;10(4-5):299-306. No abstract available.

PMID:
10838258
3.

Myofiber adaptational response to exercise in a mouse model of nemaline myopathy.

Nair-Shalliker V, Kee AJ, Joya JE, Lucas CA, Hoh JF, Hardeman EC.

Muscle Nerve. 2004 Oct;30(4):470-80.

PMID:
15372535
4.

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, De Girolami U, Iannaccone ST, Laing NG, North KN, Beggs AH.

Neurology. 2003 Feb 25;60(4):665-73.

PMID:
12601110
5.

Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

Bouldin AA, Parisi MA, Laing N, Patterson K, Gospe SM Jr.

Muscle Nerve. 2007 Feb;35(2):254-8.

PMID:
16967490
6.

Core-rod myopathy caused by mutations in the nebulin gene.

Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C.

Neurology. 2009 Oct 6;73(14):1159-61. doi: 10.1212/WNL.0b013e3181bacf45. No abstract available.

PMID:
19805734
7.

51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands.

Wallgren-Pettersson C, Beggs AH, Laing NG.

Neuromuscul Disord. 1998 Feb;8(1):53-6. No abstract available.

PMID:
9565992
8.

109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands.

Wallgren-Pettersson C, Laing NG.

Neuromuscul Disord. 2003 Aug;13(6):501-7. Review. No abstract available.

PMID:
12899878
9.

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.

Gurgel-Giannetti J, Bang ML, Reed U, Marie S, Zatz M, Labeit S, Vainzof M.

Muscle Nerve. 2002 May;25(5):747-52.

PMID:
11994971
10.

Nemaline bodies of skeletal muscle fibers of the neck in a case of pharyngeal cancer.

Kimura M, Furuta T, Hiruma S, Otsuka K, Teramura K, Maekura S, Satou T, Hashimoto S.

Pathol Int. 1997 Apr;47(4):256-9.

PMID:
9103217
11.

Nebulin is normally expressed in nemaline myopathy.

Imoto C, Kimura S, Kawai M, Nonaka I.

Acta Neuropathol. 1999 May;97(5):433-6.

PMID:
10334479
12.

Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria.

Pourmand R, Azzarelli B.

Muscle Nerve. 1994 Oct;17(10):1218-20. No abstract available.

PMID:
7935532
13.

Hypothyroidism and nemaline myopathy in an adult.

Pavlu J, Carey MP, Winer JB.

J Neurol Neurosurg Psychiatry. 2006 May;77(5):708-9. No abstract available.

14.

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K.

Am J Med Genet A. 2012 Apr;158A(4):772-8. doi: 10.1002/ajmg.a.35243. Epub 2012 Mar 9.

PMID:
22407809
15.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10.

16.

A new phenotype of autosomal dominant nemaline myopathy.

Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, Vogels OJ.

Neuromuscul Disord. 2002 Jan;12(1):13-8.

PMID:
11731279
17.

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

Ohlsson M, Tajsharghi H, Darin N, Kyllerman M, Oldfors A.

Neuromuscul Disord. 2004 Sep;14(8-9):471-5.

PMID:
15336687
18.

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.

Sanoudou D, Beggs AH.

Trends Mol Med. 2001 Aug;7(8):362-8. Review.

PMID:
11516997
19.

Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report.

Itakura Y, Ogawa Y, Murakami N, Nonaka I.

Brain Dev. 1998 Mar;20(2):112-5.

PMID:
9545182
20.

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni F.

Neuromuscul Disord. 2001 Mar;11(2):146-53.

PMID:
11257470

Supplemental Content

Support Center