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

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