These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 17546924)

  • 1. Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family.
    Yazdanpanah P; Javan A; Nadimi B; Shirazi HR
    East Mediterr Health J; 2007; 13(1):201-5. PubMed ID: 17546924
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
    Kim HY; Ki CS; Kang SJ; Khang SK; Koh SH; Kim DW; Kim SH; Sung IH
    Muscle Nerve; 2008 Oct; 38(4):1336-9. PubMed ID: 18816602
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
    Fatkin D; MacRae C; Sasaki T; Wolff MR; Porcu M; Frenneaux M; Atherton J; Vidaillet HJ; Spudich S; De Girolami U; Seidman JG; Seidman C; Muntoni F; Müehle G; Johnson W; McDonough B
    N Engl J Med; 1999 Dec; 341(23):1715-24. PubMed ID: 10580070
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.
    Mercuri E; Counsell S; Allsop J; Jungbluth H; Kinali M; Bonne G; Schwartz K; Bydder G; Dubowitz V; Muntoni F
    Neuropediatrics; 2002 Feb; 33(1):10-4. PubMed ID: 11930270
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Emery-Dreifuss muscular dystrophy.
    Helbling-Leclerc A; Bonne G; Schwartz K
    Eur J Hum Genet; 2002 Mar; 10(3):157-61. PubMed ID: 11973618
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Autosomal dominant Emery-Dreifuss muscular dystrophy(AD-EDMD)].
    Hayashi YK
    Ryoikibetsu Shokogun Shirizu; 2001; (35):35-7. PubMed ID: 11555951
    [No Abstract]   [Full Text] [Related]  

  • 7. What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy.
    Mercuri E; Muntoni F
    Eur J Paediatr Neurol; 2001; 5(1):3-5. PubMed ID: 11277362
    [No Abstract]   [Full Text] [Related]  

  • 8. [Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
    Hanisch F; Neudecker S; Wehnert M; Zierz S
    Nervenarzt; 2002 Oct; 73(10):1004-11. PubMed ID: 12376891
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene].
    Onishi Y; Higuchi J; Ogawa T; Namekawa A; Hayashi H; Odakura H; Goto K; Hayashi YK
    Rinsho Shinkeigaku; 2002 Feb; 42(2):140-4. PubMed ID: 12424964
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Emery-Dreifuss muscular dystrophy.
    De Smet L
    Genet Couns; 2004; 15(1):91-4. PubMed ID: 15083706
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.
    Park YE; Hayashi YK; Goto K; Komaki H; Hayashi Y; Inuzuka T; Noguchi S; Nonaka I; Nishino I
    Neuromuscul Disord; 2009 Jan; 19(1):29-36. PubMed ID: 19070492
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity.
    Higuchi Y; Hongou M; Ozawa K; Kokawa H; Masaki M
    Pediatr Neurol; 2005 May; 32(5):358-60. PubMed ID: 15866440
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Emery dreifuss muscular dystrophy: a clinico-pathological study.
    Gayathri N; Taly AB; Sinha S; Suresh TG; Gorai D
    Neurol India; 2006 Jun; 54(2):197-9. PubMed ID: 16804269
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
    Fujimoto S; Ishikawa T; Saito M; Wada Y; Wada I; Arahata K; Nonaka I
    Neuropediatrics; 1999 Jun; 30(3):161-3. PubMed ID: 10480214
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.
    Lassuthová P; Baránková L; Kraus J; Maríková T; Seeman P
    Pediatr Neurol; 2009 Aug; 41(2):127-30. PubMed ID: 19589462
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
    Jimenez-Escrig A; Gobernado I; Garcia-Villanueva M; Sanchez-Herranz A
    Muscle Nerve; 2012 Apr; 45(4):605-10. PubMed ID: 22431096
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.
    Sakata K; Shimizu M; Ino H; Yamaguchi M; Terai H; Fujino N; Hayashi K; Kaneda T; Inoue M; Oda Y; Fujita T; Kaku B; Kanaya H; Mabuchi H
    Circulation; 2005 Jun; 111(25):3352-8. PubMed ID: 15967842
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
    Walter MC; Witt TN; Weigel BS; Reilich P; Richard P; Pongratz D; Bonne G; Wehnert MS; Lochmüller H
    Neuromuscul Disord; 2005 Jan; 15(1):40-4. PubMed ID: 15639119
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
    Zhang Q; Bethmann C; Worth NF; Davies JD; Wasner C; Feuer A; Ragnauth CD; Yi Q; Mellad JA; Warren DT; Wheeler MA; Ellis JA; Skepper JN; Vorgerd M; Schlotter-Weigel B; Weissberg PL; Roberts RG; Wehnert M; Shanahan CM
    Hum Mol Genet; 2007 Dec; 16(23):2816-33. PubMed ID: 17761684
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition.
    Holt I; Nguyen TM; Wehnert M; Morris GE
    Neuromuscul Disord; 2006 Jun; 16(6):368-73. PubMed ID: 16697197
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.