BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

575 related articles for article (PubMed ID: 22491857)

  • 1. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.
    Menezes MP; Waddell LB; Evesson FJ; Cooper S; Webster R; Jones K; Mowat D; Kiernan MC; Johnston HM; Corbett A; Harbord M; North KN; Clarke NF
    Neurology; 2012 Apr; 78(16):1258-63. PubMed ID: 22491857
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
    Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane HM; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein EM; Eymard B; Duboc D; Penisson-Besnier I; Cuisset JM; Ferrer X; Desguerre I; Lacombe D; Bushby K; Pollitt C; Toniolo D; Fardeau M; Schwartz K; Muntoni F
    Ann Neurol; 2000 Aug; 48(2):170-80. PubMed ID: 10939567
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
    Carboni N; Mura M; Marrosu G; Cocco E; Marini S; Solla E; Mateddu A; Maioli MA; Piras R; Mallarini G; Mercuro G; Porcu M; Marrosu MG
    Muscle Nerve; 2010 Apr; 41(4):458-63. PubMed ID: 19882644
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.
    Bakay M; Wang Z; Melcon G; Schiltz L; Xuan J; Zhao P; Sartorelli V; Seo J; Pegoraro E; Angelini C; Shneiderman B; Escolar D; Chen YW; Winokur ST; Pachman LM; Fan C; Mandler R; Nevo Y; Gordon E; Zhu Y; Dong Y; Wang Y; Hoffman EP
    Brain; 2006 Apr; 129(Pt 4):996-1013. PubMed ID: 16478798
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel LMNA mutation presenting as severe congenital muscular dystrophy.
    Prigogine C; Richard P; Van den Bergh P; Groswasser J; Deconinck N
    Pediatr Neurol; 2010 Oct; 43(4):283-6. PubMed ID: 20837309
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. [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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Lamin A/C Assembly Defects in
    Bertrand AT; Brull A; Azibani F; Benarroch L; Chikhaoui K; Stewart CL; Medalia O; Ben Yaou R; Bonne G
    Cells; 2020 Mar; 9(4):. PubMed ID: 32244403
    [No Abstract]   [Full Text] [Related]  

  • 14. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.
    Díaz-Manera J; Alejaldre A; González L; Olivé M; Gómez-Andrés D; Muelas N; Vílchez JJ; Llauger J; Carbonell P; Márquez-Infante C; Fernández-Torrón R; Poza JJ; López de Munáin A; González-Quereda L; Mirabet S; Clarimon J; Gallano P; Rojas-García R; Gallardo E; Illa I
    Neuromuscul Disord; 2016 Jan; 26(1):33-40. PubMed ID: 26573435
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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]  

  • 17. Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
    Iskandar K; Sunartini ; Astari FN; Gumilang RA; Ilma N; Shartyanie NP; Adistyawan G; Tan G; Gunadi ; Lai PS
    BMC Pediatr; 2022 Oct; 22(1):601. PubMed ID: 36253810
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
    Mercuri E; Poppe M; Quinlivan R; Messina S; Kinali M; Demay L; Bourke J; Richard P; Sewry C; Pike M; Bonne G; Muntoni F; Bushby K
    Arch Neurol; 2004 May; 61(5):690-4. PubMed ID: 15148145
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.
    Hong JS; Ki CS; Kim JW; Suh YL; Kim JS; Baek KK; Kim BJ; Ahn KJ; Kim DK
    J Korean Med Sci; 2005 Apr; 20(2):283-90. PubMed ID: 15832002
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.