Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 250

1.

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
2.

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.

Hum Mol Genet. 2000 Nov 1;9(18):2599-608.

PMID:
11063719
3.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.

Neurology. 2005 Dec 27;65(12):1930-5.

PMID:
16380615
4.

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH.

Ann Neurol. 2004 Jul;56(1):86-96.

PMID:
15236405
5.

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacène E, Beuvin M, Viou M, Manéré L, Claeys KG, Fardeau M, Lunardi J, Voit T, Romero NB.

Eur J Med Genet. 2011 Jan-Feb;54(1):29-33. doi: 10.1016/j.ejmg.2010.09.009. Epub 2010 Oct 1.

PMID:
20888934
6.

[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].

Bojdo A, Obersztyn E, Wallgren-Pettersson C, Lehtokari V, Laing N, Davis M, Kułakowska Z.

Med Wieku Rozwoj. 2009 Jan-Mar;13(1):5-10. Polish.

PMID:
19648653
7.

Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.

Kiphuth IC, Krause S, Huttner HB, Dekomien G, Struffert T, Schröder R.

J Neurol. 2010 Apr;257(4):658-60. doi: 10.1007/s00415-009-5413-y. Epub 2009 Dec 10.

PMID:
20012312
8.

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

Gommans IM, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak HJ, Reis A, Vogels OJ, Laing N, van Engelen BG, Kremer H.

Brain. 2003 Jul;126(Pt 7):1545-51. Epub 2003 Jun 4. Erratum in: Brain. 2003 Sep;126(Pt 9):2115.

PMID:
12805120
9.

[Congenital myopathies].

Cabello A, Ricoy-Campo JR.

Rev Neurol. 2003 Oct 16-31;37(8):779-86. Review. Spanish.

10.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.

Am J Hum Genet. 2001 Jun;68(6):1333-43. Epub 2001 Apr 27.

11.

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
12.

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).

Schröder JM, Durling H, Laing N.

Acta Neuropathol. 2004 Sep;108(3):250-6. Epub 2004 Jun 24.

PMID:
15221331
13.

Nebulin expression in patients with nemaline myopathy.

Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M.

Neuromuscul Disord. 2001 Mar;11(2):154-62.

PMID:
11257471
14.

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.

Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, Wallgren-Pettersson C, Laing NG.

Neuromuscul Disord. 1999 Dec;9(8):573-9.

PMID:
10619715
15.

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.

Monnier N, Laquerrière A, Marret S, Goldenberg A, Marty I, Nivoche Y, Lunardi J.

Neuromuscul Disord. 2009 Oct;19(10):680-4. doi: 10.1016/j.nmd.2009.07.007. Epub 2009 Sep 5.

PMID:
19734047
16.

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R, Laporte J, Romero NB.

Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2.

PMID:
24095155
17.

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.

Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST, Wallgren-Pettersson C, Laing NG, Beggs AH.

Neurology. 2002 Aug 27;59(4):613-7.

PMID:
12196661
18.

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).

Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, Mayatepek E, Voit T.

Neuropediatrics. 2007 Dec;38(6):282-6. doi: 10.1055/s-2008-1065356.

PMID:
18461503
19.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
20.

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG.

Neuromuscul Disord. 2006 Oct;16(9-10):541-7. Epub 2006 Sep 1.

PMID:
16945536

Supplemental Content

Support Center