501 related articles for article (PubMed ID: 17846275)
1. 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]
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 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.
Tasca G; Fattori F; Ricci E; Monforte M; Rizzo V; Mercuri E; Bertini E; Silvestri G
Acta Neuropathol; 2013 Jan; 125(1):169-71. PubMed ID: 23015096
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. [Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report].
Oya Y; Segawa M; Ogawa M; Goto Y; Nonaka I; Kawai M
Rinsho Shinkeigaku; 2000 May; 40(5):452-8. PubMed ID: 11002727
[TBL] [Abstract][Full Text] [Related]
16. Dietary L-tyrosine supplementation in nemaline myopathy.
Ryan MM; Sy C; Rudge S; Ellaway C; Ketteridge D; Roddick LG; Iannaccone ST; Kornberg AJ; North KN
J Child Neurol; 2008 Jun; 23(6):609-13. PubMed ID: 18079309
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15336687
[TBL] [Abstract][Full Text] [Related]
18. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Nguyen MA; Joya JE; Kee AJ; Domazetovska A; Yang N; Hook JW; Lemckert FA; Kettle E; Valova VA; Robinson PJ; North KN; Gunning PW; Mitchell CA; Hardeman EC
Brain; 2011 Dec; 134(Pt 12):3516-29. PubMed ID: 22067542
[TBL] [Abstract][Full Text] [Related]
19. Nemaline myopathy: description of an adult onset case.
Ginanneschi F; Mondelli M; Malandrini A; Gambelli S; Dotti MT; Federico A
J Submicrosc Cytol Pathol; 2002 Jan; 34(1):105-8. PubMed ID: 11989852
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]