2 Works

Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1-disease

Andreas Traschütz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, Annette Hartmann, Dan Rujescu, Solveig Montaut, Andoni Echaniz-Laguna, Sevda Erer, Valerie Cornelia Schütz, Alexander Tarnutzer, Marc Sturm, Tobias Haack, Nadège Vaucamps-Diedhiou, Helene Puccio, Ludger Schöls, Thomas Klockgether, Bart P. Van De Warrenburg, Martin Paucar, Dagmar Timmann, Ralf-Dieter Hilgers, Jose Gazulla, Michael Strupp … & Matthis Synofzik
Objective: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of RFC1-repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Methods: Multimodal RFC1 repeat screening (PCR, southern blot, whole-exome/genome (WES/WGS)-based approaches) combined with cross-sectional and longitudinal deep-phenotyping in (i) cross-European cohort A (70 families) with ≥2 features of CANVAS and/or ataxia-with-chronic-cough (ACC); and (ii) Turkish cohort B (105 families) with unselected late-onset ataxia. Results:...

Retrospective cohort analysis of Spanish national trends of coronary artery bypass grafting and percutaneous coronary intervention from 1998 to 2017

Manuel Carnero Alcazar, Daniel Hernandez Vaquero, Hector Cubero Gallego, Jose Lopez Menendez, Miguel Piñón, Jose Albors Martin, Gregorio Cuerpo Caballero, Javier Cobiella Carnicer, Cristina Villamor, Alberto Forteza, Isaac Pascual & Luis Carlos Maroto Castellanos
Introduction: Spain is one of the countries with the lowest rates of revascularization and highest ratio of percutaneous coronary intervention (PCI) to coronary artery bypass grafting (CABG). Objectives: To investigate the changes and trends in the two revascularization procedures between 1998 and 2017 in our country. Design: Retrospective cohort study. Analysis of in-hospital outcomes. Setting: Minimum Basic Dataset from the Spanish National Department of Health: mandatory database collecting information of patients who are attended in...

Registration Year

  • 2021
    1
  • 2020
    1

Resource Types

  • Dataset
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Affiliations

  • Central University Hospital of Asturias
    2
  • Institute of Genetics and Molecular and Cellular Biology
    1
  • Koç University
    1
  • Karolinska University Hospital
    1
  • University of Strasbourg
    1
  • Hospital General Universitario Gregorio Marañón
    1
  • University Hospital Heidelberg
    1
  • Hospital Universitario Puerta de Hierro Majadahonda
    1
  • Hospital Universitario Miguel Servet
    1
  • University Hospital Bonn
    1