Article révisé par les pairs
Titre:
  • Onset features and time to diagnosis in Friedreich's Ataxia
Auteur:Indelicato, Elisabetta; Nachbauer, Wolfgang; Eigentler, Andreas; Amprosi, Matthias; Matteucci Gothe, Raffaella; Giunti, Paola; Mariotti, Caterina; Arpa, Javier; Dürr, Alexandra; Klopstock, Thomas; Schöls, Lüdger; Giordano, Ilaria Anna; Bürk, Katrin; Pandolfo, Massimo; Didszdun, Claire; Schulz, Jörg Bernhard; Boesch, Sylvia
Informations sur la publication:Orphanet journal of rare diseases, 15, 1, 198
Statut de publication:Publié, 2020-08
Sujet CREF:Génétique clinique
Pharmacologie
Sciences bio-médicales et agricoles
Mots-clés:Age at onset
Diagnostic delay
Friedreich's Ataxia
Genetic testing
Natural history study
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1750-1172
info:doi/10.1186/s13023-020-01475-9
info:scp/85089046639
info:pmid/32746884

Documents en relation

DI-fusion

  • Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset
    par Porcu, Luca , Fichera, Mario , Nanetti, Lorenzo , Rulli, Eliana , Giunti, Paola , Parkinson, Michael M.H. , Durr, Alexandra , Ewenczyk, Claire , Boesch, Sylvia , Nachbauer, Wolfgang , Indelicato, Elisabetta , Klopstock, Thomas , Stendel, Claudia , Rodriguez De Rivera, Francisco Javier , Schöls, Lüdger , Fleszar, Zofia , Giordano, Ilaria Anna , Didszun, Claire , Castaldo, Anna , Rai, Myriam , Klockgether, Thomas , Pandolfo, Massimo , Schulz, Jörg Bernhard , Reetz, Kathrin , Mariotti, Caterina
    Publication 2023-11
  • Prediction of the disease course in Friedreich ataxia
    par Hohenfeld, Christian , Terstiege, Ulrich , Dogan, Imis , Giunti, Paola , Parkinson, Michael M.H. , Mariotti, Caterina , Nanetti, Lorenzo , Fichera, Mario , Durr, Alexandra , Ewenczyk, Claire , Boesch, Sylvia , Nachbauer, Wolfgang , Klopstock, Thomas , Stendel, Claudia , Rodriguez De Rivera, Francisco Javier , Schöls, Lüdger , Hayer, Stefanie Nicole , Klockgether, Thomas , Giordano, Ilaria Anna , Didszun, Claire , Rai, Myriam , Pandolfo, Massimo , Rauhut, Holger , Schulz, Jörg Bernhard , Reetz, Kathrin
    Publication 2022-12
  • Drug Repurposing Trends: Strategic Approaches to Unlocking New Therapeutics
    par Akodad, Sanaé , Niu, Xixian , Secades Casino, Berta , Stevens, Hilde
    Publication 2026-01-04
  • SHIP2–PLK1 crosstalk promotes sensitivity to dual inhibition in esophageal squamous cell carcinoma
    par Ramos, Ana Raquel , Bregni, Giacomo , Gillet, Nadia , Ando, Kunie , Bodart, Cyril , Vercauteren Drubbel, Alizée , Descampe, Louison , Moresi, Fabiana , Bisteau, Xavier , Verheye, Quentin , Pirard, Sheleya , Erneux, Christophe , Beck, Benjamin
    Publication 2025-10-24
  • Hyperosmolar stress induces MCP-1 expression in retinal pigmented epithelial ARPE-19 cells
    par Ould Hamou, Moncef , Masset, Maureen , Weber, Celia , Scifo, Lisa , Libert, Sarah , Bryla, Angélic , Gregoire, Francoise , Delforge, Valérie , Bolaky, Nargis , Datlibagi, Azine , Springael, Jean-Yves , Perret, Jason , Willermain, Francois , Delporte, Christine
    Publication 2025-10-15