BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

90 related articles for article (PubMed ID: 27060328)

  • 1. [Emery-Dreifuss muscular dystrophy: a family with two cases].
    Wei Q; Ou R; Shang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):251. PubMed ID: 27060328
    [No Abstract]   [Full Text] [Related]  

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

  • 3. 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]  

  • 4. Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene.
    Ortiz Madinaveitia S; Del Valle Sanchez M; Sagarra Mur D
    Neurologia (Engl Ed); 2018 Oct; 33(8):554-555. PubMed ID: 27461183
    [No Abstract]   [Full Text] [Related]  

  • 5. Gene symbol: LMNA.
    Arbustini EA; Pasotti M; Pilotto A; Grasso M; Porcu E; Tocco G; Marziliano N
    Hum Genet; 2007 Feb; 120(6):907-8. PubMed ID: 17438593
    [No Abstract]   [Full Text] [Related]  

  • 6. Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy.
    Redondo-Vergé L; Yaou RB; Fernández-Recio M; Dinca L; Richard P; Bonne G
    Muscle Nerve; 2011 Oct; 44(4):587-9. PubMed ID: 21922471
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.
    Albuquerque MA; Pasqualin LM; Martins CA; Reed UC; Zanoteli E
    Pediatr Neurol; 2014 May; 50(5):e11-2. PubMed ID: 24656463
    [No Abstract]   [Full Text] [Related]  

  • 9. Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
    Cenni V; Sabatelli P; Mattioli E; Marmiroli S; Capanni C; Ognibene A; Squarzoni S; Maraldi NM; Bonne G; Columbaro M; Merlini L; Lattanzi G
    J Med Genet; 2005 Mar; 42(3):214-20. PubMed ID: 15744034
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.
    Liang WC; Yuo CY; Liu CY; Lee CS; Goto K; Hayashi YK; Jong YJ
    J Formos Med Assoc; 2007 Feb; 106(2 Suppl):S27-31. PubMed ID: 17493893
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
    Wiltshire KM; Hegele RA; Innes AM; Brownell AK
    Neuromuscul Disord; 2013 Mar; 23(3):265-8. PubMed ID: 23313286
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
    Scharner J; Brown CA; Bower M; Iannaccone ST; Khatri IA; Escolar D; Gordon E; Felice K; Crowe CA; Grosmann C; Meriggioli MN; Asamoah A; Gordon O; Gnocchi VF; Ellis JA; Mendell JR; Zammit PS
    Hum Mutat; 2011 Feb; 32(2):152-67. PubMed ID: 20848652
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.
    Zhang L; Shen H; Zhao Z; Bing Q; Hu J
    Mol Med Rep; 2015 Oct; 12(4):5065-71. PubMed ID: 26165385
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.
    Hausmanowa-Petrusewicz I; Madej-Pilarczyk A; Marchel M; Opolski G
    Neurol Neurochir Pol; 2009; 43(5):415-20. PubMed ID: 20054742
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 5.