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 *

270 related articles for article (PubMed ID: 27546599)

  • 1. A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.
    Zheng J; Chen S; Chen Y; Zhu M; Hong D
    Neuropathology; 2017 Feb; 37(1):45-51. PubMed ID: 27546599
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in ZASP define a novel form of muscular dystrophy in humans.
    Selcen D; Engel AG
    Ann Neurol; 2005 Feb; 57(2):269-76. PubMed ID: 15668942
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.
    Lin X; Ruiz J; Bajraktari I; Ohman R; Banerjee S; Gribble K; Kaufman JD; Wingfield PT; Griggs RC; Fischbeck KH; Mankodi A
    J Biol Chem; 2014 May; 289(19):13615-26. PubMed ID: 24668811
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement].
    Kraya T; Kress W; Stoevesant D; Deschauer M; Zierz S
    Nervenarzt; 2013 Feb; 84(2):209-13. PubMed ID: 23263837
    [TBL] [Abstract][Full Text] [Related]  

  • 5. When myopathy breaks the rules: a late-onset distal presentation.
    Newby R; Jamieson S; Udd B; Alty J
    BMJ Case Rep; 2015 Apr; 2015():. PubMed ID: 25911362
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein.
    Cassandrini D; Merlini L; Pilla F; Cenni V; Santi S; Faldini C; Santorelli FM; Sabatelli P
    Neuromuscul Disord; 2021 Jan; 31(1):44-51. PubMed ID: 33308939
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel GNE compound heterozygous mutations in a GNE myopathy patient.
    Cai H; Yabe I; Shirai S; Nishimura H; Hirotani M; Kano T; Houzen H; Yoshida K; Sasaki H
    Muscle Nerve; 2013 Oct; 48(4):594-8. PubMed ID: 23558691
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
    Berciano J; Gallardo E; Domínguez-Perles R; Gallardo E; García A; García-Barredo R; Combarros O; Infante J; Illa I
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification.
    Griggs RC; Udd BA
    Neuromolecular Med; 2011 Mar; 13(1):27-30. PubMed ID: 20809097
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
    Avila-Smirnow D; Gueneau L; Batonnet-Pichon S; Delort F; Bécane HM; Claeys K; Beuvin M; Goudeau B; Jais JP; Nelson I; Richard P; Ben Yaou R; Romero NB; Wahbi K; Mathis S; Voit T; Furst D; van der Ven P; Gil R; Vicart P; Fardeau M; Bonne G; Behin A
    Rev Neurol (Paris); 2016 Oct; 172(10):594-606. PubMed ID: 27633507
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Association between
    Piga D; Zanotti S; Ripolone M; Napoli L; Ciscato P; Gibertini S; Maggi L; Fortunato F; Rigamonti A; Ronchi D; Comi GP; Corti S; Sciacco M
    Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928252
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
    Liu XY; Jin M; Wang ZQ; Wang DN; He JJ; Lin MT; Fu HX; Wang N
    Chin Med J (Engl); 2016 Jun; 129(12):1425-31. PubMed ID: 27270537
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Zaspopathy in a large classic late-onset distal myopathy family.
    Griggs R; Vihola A; Hackman P; Talvinen K; Haravuori H; Faulkner G; Eymard B; Richard I; Selcen D; Engel A; Carpen O; Udd B
    Brain; 2007 Jun; 130(Pt 6):1477-84. PubMed ID: 17337483
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Distinct muscle imaging patterns in myofibrillar myopathies.
    Fischer D; Kley RA; Strach K; Meyer C; Sommer T; Eger K; Rolfs A; Meyer W; Pou A; Pradas J; Heyer CM; Grossmann A; Huebner A; Kress W; Reimann J; Schröder R; Eymard B; Fardeau M; Udd B; Goldfarb L; Vorgerd M; Olivé M
    Neurology; 2008 Sep; 71(10):758-65. PubMed ID: 18765652
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle.
    Martinelli VC; Kyle WB; Kojic S; Vitulo N; Li Z; Belgrano A; Maiuri P; Banks L; Vatta M; Valle G; Faulkner G
    PLoS One; 2014; 9(3):e92259. PubMed ID: 24647531
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Myofibrillar myopathy].
    Hayashi YK
    Brain Nerve; 2011 Nov; 63(11):1179-88. PubMed ID: 22068470
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.
    Watts NR; Zhuang X; Kaufman JD; Palmer IW; Dearborn AD; Coscia S; Blech-Hermoni Y; Alfano C; Pastore A; Mankodi A; Wingfield PT
    Biochemistry; 2017 Apr; 56(14):2061-2070. PubMed ID: 28349680
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. ZASPopathy with childhood-onset distal myopathy.
    Strach K; Reimann J; Thomas D; Naehle CP; Kress W; Kornblum C
    J Neurol; 2012 Jul; 259(7):1494-6. PubMed ID: 22619057
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Thigh and Leg Muscle MRI Findings in GNE Myopathy.
    Fatehi F; Advani S; Okhovat AA; Ziaadini B; Shamshiri H; Nafissi S
    J Neuromuscul Dis; 2021; 8(4):735-742. PubMed ID: 34334416
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.