315 related articles for article (PubMed ID: 14991347)
1. A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
Dagvadorj A; Olivé M; Urtizberea JA; Halle M; Shatunov A; Bönnemann C; Park KY; Goebel HH; Ferrer I; Vicart P; Dalakas MC; Goldfarb LG
J Neurol; 2004 Feb; 251(2):143-9. PubMed ID: 14991347
[TBL] [Abstract][Full Text] [Related]
2. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
Dagvadorj A; Goudeau B; Hilton-Jones D; Blancato JK; Shatunov A; Simon-Casteras M; Squier W; Nagle JW; Goldfarb LG; Vicart P
Muscle Nerve; 2003 Jun; 27(6):669-75. PubMed ID: 12766977
[TBL] [Abstract][Full Text] [Related]
3. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
Arias M; Pardo J; Blanco-Arias P; Sobrido MJ; Arias S; Dapena D; Carracedo A; Goldfarb LG; Navarro C
Neuromuscul Disord; 2006 Aug; 16(8):498-503. PubMed ID: 16806931
[TBL] [Abstract][Full Text] [Related]
4. Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Goldfarb LG; Park KY; Cervenáková L; Gorokhova S; Lee HS; Vasconcelos O; Nagle JW; Semino-Mora C; Sivakumar K; Dalakas MC
Nat Genet; 1998 Aug; 19(4):402-3. PubMed ID: 9697706
[TBL] [Abstract][Full Text] [Related]
5. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas MC; Park KY; Semino-Mora C; Lee HS; Sivakumar K; Goldfarb LG
N Engl J Med; 2000 Mar; 342(11):770-80. PubMed ID: 10717012
[TBL] [Abstract][Full Text] [Related]
6. Autopsy case of desminopathy involving skeletal and cardiac muscle.
Yuri T; Miki K; Tsukamoto R; Shinde A; Kusaka H; Tsubura A
Pathol Int; 2007 Jan; 57(1):32-6. PubMed ID: 17199740
[TBL] [Abstract][Full Text] [Related]
7. Desmin myopathy.
Goldfarb LG; Vicart P; Goebel HH; Dalakas MC
Brain; 2004 Apr; 127(Pt 4):723-34. PubMed ID: 14724127
[TBL] [Abstract][Full Text] [Related]
8. A novel desmin R355P mutation causes cardiac and skeletal myopathy.
Fidziańska A; Kotowicz J; Sadowska M; Goudeau B; Walczak E; Vicart P; Hausmanowa-Petrusewicz I
Neuromuscul Disord; 2005 Aug; 15(8):525-31. PubMed ID: 16009553
[TBL] [Abstract][Full Text] [Related]
9. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Bergman JE; Veenstra-Knol HE; van Essen AJ; van Ravenswaaij CM; den Dunnen WF; van den Wijngaard A; van Tintelen JP
Eur J Med Genet; 2007; 50(5):355-66. PubMed ID: 17720647
[TBL] [Abstract][Full Text] [Related]
10. Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Goudeau B; Dagvadorj A; Rodrigues-Lima F; Nédellec P; Casteras-Simon M; Perret E; Langlois S; Goldfarb L; Vicart P
Hum Mutat; 2001 Nov; 18(5):388-96. PubMed ID: 11668632
[TBL] [Abstract][Full Text] [Related]
11. Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Goudeau B; Rodrigues-Lima F; Fischer D; Casteras-Simon M; Sambuughin N; de Visser M; Laforet P; Ferrer X; Chapon F; Sjöberg G; Kostareva A; Sejersen T; Dalakas MC; Goldfarb LG; Vicart P
Hum Mutat; 2006 Sep; 27(9):906-13. PubMed ID: 16865695
[TBL] [Abstract][Full Text] [Related]
12. How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Clemen CS; Fischer D; Reimann J; Eichinger L; Müller CR; Müller HD; Goebel HH; Schröder R
Hum Mutat; 2009 Mar; 30(3):E490-9. PubMed ID: 19105189
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy.
Cao L; Hong D; Zhu M; Li X; Wan H; Hong K
Clin Neuropathol; 2013; 32(1):9-15. PubMed ID: 23036309
[TBL] [Abstract][Full Text] [Related]
15. [Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene].
Pou Serradell A; Lloreta Trull J; Corominas Torres J; Guicheney P
Neurologia; 2001 May; 16(5):195-203. PubMed ID: 11412718
[TBL] [Abstract][Full Text] [Related]
16. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
Mercuri E; Brown SC; Nihoyannopoulos P; Poulton J; Kinali M; Richard P; Piercy RJ; Messina S; Sewry C; Burke MM; McKenna W; Bonne G; Muntoni F
Muscle Nerve; 2005 May; 31(5):602-9. PubMed ID: 15770669
[TBL] [Abstract][Full Text] [Related]
17. New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.
Darin N; Tajsharghi H; Ostman-Smith I; Gilljam T; Oldfors A
Neurology; 2007 Jun; 68(23):2041-2. PubMed ID: 17548557
[No Abstract] [Full Text] [Related]
18. Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
Park KY; Dalakas MC; Semino-Mora C; Lee HS; Litvak S; Takeda K; Ferrans VJ; Goldfarb LG
Clin Genet; 2000 Jun; 57(6):423-9. PubMed ID: 10905661
[TBL] [Abstract][Full Text] [Related]
19. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA; Hellenbroich Y; van der Ven PF; Fürst DO; Huebner A; Bruchertseifer V; Peters SA; Heyer CM; Kirschner J; Schröder R; Fischer D; Müller K; Tolksdorf K; Eger K; Germing A; Brodherr T; Reum C; Walter MC; Lochmüller H; Ketelsen UP; Vorgerd M
Brain; 2007 Dec; 130(Pt 12):3250-64. PubMed ID: 18055494
[TBL] [Abstract][Full Text] [Related]
20. Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
Bär H; Fischer D; Goudeau B; Kley RA; Clemen CS; Vicart P; Herrmann H; Vorgerd M; Schröder R
Hum Mol Genet; 2005 May; 14(10):1251-60. PubMed ID: 15800015
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
