272 related articles for article (PubMed ID: 17434307)
1. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.
Lehtokari VL; Ceuterick-de Groote C; de Jonghe P; Marttila M; Laing NG; Pelin K; Wallgren-Pettersson C
Neuromuscul Disord; 2007 Jun; 17(6):433-42. PubMed ID: 17434307
[TBL] [Abstract][Full Text] [Related]
2. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
Ohlsson M; Quijano-Roy S; Darin N; Brochier G; Lacène E; Avila-Smirnow D; Fardeau M; Oldfors A; Tajsharghi H
Neurology; 2008 Dec; 71(23):1896-901. PubMed ID: 19047562
[TBL] [Abstract][Full Text] [Related]
3. Cap disease due to mutation of the beta-tropomyosin gene (TPM2).
Clarke NF; Domazetovska A; Waddell L; Kornberg A; McLean C; North KN
Neuromuscul Disord; 2009 May; 19(5):348-51. PubMed ID: 19345583
[TBL] [Abstract][Full Text] [Related]
4. Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.
Marttila M; Lemola E; Wallefeld W; Memo M; Donner K; Laing NG; Marston S; Grönholm M; Wallgren-Pettersson C
Biochem J; 2012 Feb; 442(1):231-9. PubMed ID: 22084935
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Cap disease uncapped.
Goebel HH
Neuromuscul Disord; 2007 Jun; 17(6):429-32. PubMed ID: 17434306
[No Abstract] [Full Text] [Related]
7. Myopathies associated with β-tropomyosin mutations.
Tajsharghi H; Ohlsson M; Palm L; Oldfors A
Neuromuscul Disord; 2012 Nov; 22(11):923-33. PubMed ID: 22749895
[TBL] [Abstract][Full Text] [Related]
8. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.
Tajsharghi H; Kimber E; Holmgren D; Tulinius M; Oldfors A
Neurology; 2007 Mar; 68(10):772-5. PubMed ID: 17339586
[TBL] [Abstract][Full Text] [Related]
9. Novel TPM3 mutation in a family with cap myopathy and review of the literature.
Schreckenbach T; Schröder JM; Voit T; Abicht A; Neuen-Jacob E; Roos A; Bulst S; Kuhl C; Schulz JB; Weis J; Claeys KG
Neuromuscul Disord; 2014 Feb; 24(2):117-24. PubMed ID: 24239060
[TBL] [Abstract][Full Text] [Related]
10. Actin mutations are one cause of congenital fibre type disproportion.
Laing NG; Clarke NF; Dye DE; Liyanage K; Walker KR; Kobayashi Y; Shimakawa S; Hagiwara T; Ouvrier R; Sparrow JC; Nishino I; North KN; Nonaka I
Ann Neurol; 2004 Nov; 56(5):689-94. PubMed ID: 15468086
[TBL] [Abstract][Full Text] [Related]
11. The reason for the low Ca
Avrova SV; Karpicheva OE; Rysev NA; Simonyan AO; Sirenko VV; Redwood CS; Borovikov YS
Biochem Biophys Res Commun; 2018 Jul; 502(2):209-214. PubMed ID: 29792862
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 10508519
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. TPM2 mutation.
Brandis A; Aronica E; Goebel HH
Neuromuscul Disord; 2008 Dec; 18(12):1005. PubMed ID: 18789687
[No Abstract] [Full Text] [Related]
15. The pathogenesis of ACTA1-related congenital fiber type disproportion.
Clarke NF; Ilkovski B; Cooper S; Valova VA; Robinson PJ; Nonaka I; Feng JJ; Marston S; North K
Ann Neurol; 2007 Jun; 61(6):552-61. PubMed ID: 17387733
[TBL] [Abstract][Full Text] [Related]
16. Congenital myopathies: diseases of the actin cytoskeleton.
Clarkson E; Costa CF; Machesky LM
J Pathol; 2004 Nov; 204(4):407-17. PubMed ID: 15495263
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutations in TPM2 and congenital fibre type disproportion.
Clarke NF; Waddell LB; Sie LT; van Bon BW; McLean C; Clark D; Kornberg A; Lammens M; North KN
Neuromuscul Disord; 2012 Nov; 22(11):955-8. PubMed ID: 22832343
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 18382475
[TBL] [Abstract][Full Text] [Related]
20. Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
Piteau SJ; Rossiter JP; Smith RG; MacKenzie JJ
Pediatr Neurol; 2014 Aug; 51(2):192-7. PubMed ID: 25079567
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
