248 related articles for article (PubMed ID: 17376686)
1. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
Pénisson-Besnier I; Monnier N; Toutain A; Dubas F; Laing N
Neuromuscul Disord; 2007 Apr; 17(4):330-7. PubMed ID: 17376686
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 24095155
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 18382475
[TBL] [Abstract][Full Text] [Related]
4. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
Laing NG; Wilton SD; Akkari PA; Dorosz S; Boundy K; Kneebone C; Blumbergs P; White S; Watkins H; Love DR
Nat Genet; 1995 Jan; 9(1):75-9. PubMed ID: 7704029
[TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci.
Jeannet PY; Mittaz L; Dunand M; Lobrinus JA; Bonafe L; Kuntzer T
Neuromuscul Disord; 2007 Jan; 17(1):6-12. PubMed ID: 17157023
[TBL] [Abstract][Full Text] [Related]
6. Mutations in TPM3 are a common cause of congenital fiber type disproportion.
Clarke NF; Kolski H; Dye DE; Lim E; Smith RL; Patel R; Fahey MC; Bellance R; Romero NB; Johnson ES; Labarre-Vila A; Monnier N; Laing NG; North KN
Ann Neurol; 2008 Mar; 63(3):329-37. PubMed ID: 18300303
[TBL] [Abstract][Full Text] [Related]
7. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
Hutchinson DO; Charlton A; Laing NG; Ilkovski B; North KN
Neuromuscul Disord; 2006 Feb; 16(2):113-21. PubMed ID: 16427282
[TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Wallgren-Pettersson C; Pelin K; Nowak KJ; Muntoni F; Romero NB; Goebel HH; North KN; Beggs AH; Laing NG;
Neuromuscul Disord; 2004 Sep; 14(8-9):461-70. PubMed ID: 15336686
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 12805120
[TBL] [Abstract][Full Text] [Related]
10. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
Monnier N; Lunardi J; Marty I; Mezin P; Labarre-Vila A; Dieterich K; Jouk PS
Neuromuscul Disord; 2009 Feb; 19(2):118-23. PubMed ID: 19155175
[TBL] [Abstract][Full Text] [Related]
11. De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.
Durling HJ; Reilich P; Müller-Höcker J; Mendel B; Pongratz D; Wallgren-Pettersson C; Gunning P; Lochmüller H; Laing NG
Neuromuscul Disord; 2002 Dec; 12(10):947-51. PubMed ID: 12467750
[TBL] [Abstract][Full Text] [Related]
12. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.
Waddell LB; Kreissl M; Kornberg A; Kennedy P; McLean C; Labarre-Vila A; Monnier N; North KN; Clarke NF
Neuromuscul Disord; 2010 Jul; 20(7):464-6. PubMed ID: 20554445
[TBL] [Abstract][Full Text] [Related]
13. An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
Corbett MA; Akkari PA; Domazetovska A; Cooper ST; North KN; Laing NG; Gunning PW; Hardeman EC
Ann Neurol; 2005 Jan; 57(1):42-9. PubMed ID: 15562513
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 15336687
[TBL] [Abstract][Full Text] [Related]
15. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
Tajsharghi H; Ohlsson M; Lindberg C; Oldfors A
Arch Neurol; 2007 Sep; 64(9):1334-8. PubMed ID: 17846275
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 21724397
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 15236405
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 10619715
[TBL] [Abstract][Full Text] [Related]
19. Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.
Ilkovski B; Mokbel N; Lewis RA; Walker K; Nowak KJ; Domazetovska A; Laing NG; Fowler VM; North KN; Cooper ST
J Neuropathol Exp Neurol; 2008 Sep; 67(9):867-77. PubMed ID: 18716557
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 20012312
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]