Titre:
  • RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Auteur:Beijer, Danique; Dohrn, Maike M.F.; De Winter, Jonathan; Fazal, Sarah; Cortese, Andrea; Stojkovic, Tanya; Fernández-Eulate, Gorka; Remiche, Gauthier; Gentile, Mattia; Van Coster, Rudy; Dufke, Claudia; Synofzik, Matthis; De Jonghe, Peter; Züchner, Stephan; Baets, Jonathan
Informations sur la publication:European journal of neurology
Statut de publication:Publié, 2022-02-01
Sujet CREF:Neurologie
Mots-clés:afferent ataxia
autonomic dysfunction
chronic cough
next-generation sequencing
RFC1 repeat-primed PCR
MeSH keywords:Ataxia
Bilateral Vestibulopathy
Cerebellar Ataxia -- diagnosis -- genetics
Cough -- genetics
Hereditary Sensory and Autonomic Neuropathies -- genetics
Humans
Peripheral Nervous System Diseases -- complications
Vestibular Diseases
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1351-5101
info:doi/10.1111/ene.15310
info:scp/85126894137
info:pmid/35253317