Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Auteurs

Coppens S, Deconinck N, Sullivan P, Smolnikov A, Clayton JS, Griffin KR, Jones KJ, Vilain CN, Kadhim H, Bryen SJ, Faiz F, Waddell LB, Evesson FJ, Bakshi M, Pinner JR, Charlton A, Brammah S, Graf NS, Krivanek M, Tay CG, Foulds NC, Illingworth MA, Thomas NH, Ellard S, Mazanti I, Park SM, French CE, Brewster J, Belteki G, Hoodbhoy S, Allinson K, Krishnakumar D, Baynam G, Wood BM, Ward M, Vijayakumar K, Syed A, Murugan A, Majumdar A, Scurr IJ, Splitt MP, Moldovan C, de Silva DC, Senanayake K, Gardeitchik T, Arens Y, Cooper ST, Laing NG, Raymond FL, Jungbluth H, Kamsteeg EJ, Manzur A, Corley SM, Ravenscroft G, Wilkins MR, Cowley MJ, Pinese M, Phadke R, Davis MR, Muntoni F, Oates EC

  • Date de publication

    January 2025
  • Type

    Article
  • Review

    Ann Neurol
  • Researcher's name

    DECONINCK Nicolas
  • Hôpital

    Hôpital Universitaire des Enfants
  • Service

    Clinique de Neuropédiatrie
  • PMID

    39853809
  • DOI

    10.1002/ana.27087