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Items: 1 to 20 of 319

1.

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.

2.

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
3.

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
4.

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.

Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A.

Neuromuscul Disord. 1999 Dec;9(8):564-72.

PMID:
10619714
5.

Nebulin mutations in autosomal recessive nemaline myopathy: an update.

Pelin K, Donner K, Holmberg M, Jungbluth H, Muntoni F, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Oct;12(7-8):680-6.

PMID:
12207938
6.

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
7.

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

Wallgren-Pettersson C, Donner K, Sewry C, Bijlsma E, Lammens M, Bushby K, Giovannucci Uzielli ML, Lapi E, Odent S, Akcoren Z, Topaloğlu H, Pelin K.

Neuromuscul Disord. 2002 Oct;12(7-8):674-9.

PMID:
12207937
8.

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
9.

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.

Pelin K, Ridanpää M, Donner K, Wilton S, Krishnarajah J, Laing N, Kolmerer B, Millevoi S, Labeit S, de la Chapelle A, Wallgren-Petterson C.

Eur J Hum Genet. 1997 Jul-Aug;5(4):229-34.

PMID:
9359044
10.

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Feb;12(2):151-8.

PMID:
11738357
11.

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.

Li F, Buck D, De Winter J, Kolb J, Meng H, Birch C, Slater R, Escobar YN, Smith JE 3rd, Yang L, Konhilas J, Lawlor MW, Ottenheijm C, Granzier HL.

Hum Mol Genet. 2015 Sep 15;24(18):5219-33. doi: 10.1093/hmg/ddv243. Epub 2015 Jun 29.

12.

Nebulin--a giant chameleon.

Pelin K, Wallgren-Pettersson C.

Adv Exp Med Biol. 2008;642:28-39.

PMID:
19181091
13.

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.

14.

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
15.

Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.

Gajda A, Horváth E, Hortobágyi T, Gergev G, Szabó H, Farkas K, Nagy N, Széll M, Sztriha L.

J Child Neurol. 2015 Apr;30(5):627-30. doi: 10.1177/0883073813494476. Epub 2013 Sep 20.

PMID:
24056153
16.

[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
17.

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13.

PMID:
17460281
18.

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
19.

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C.

Eur J Hum Genet. 2008 Sep;16(9):1055-61. doi: 10.1038/ejhg.2008.60. Epub 2008 Apr 2.

20.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970

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