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Available online 17 May 2024
Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1)
Esther Palonesa,b,
, Vicente Plazaa,b, Lidia Gonzalez-Queredac,d, Alba Segarra-Casasc,d, Luis Querole, Federico Bertolettif, María José Rodriguezd, Pía Gallanoc,d,g, Astrid Crespo-Lessmanna,b
Corresponding author
a Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain
b Department of Respiratory Medicine, Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
c Genetics and Microbiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain
d Genetics Department, Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
e Neuromuscular Disease Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
f Department of Digestive Pathology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
g Networked Biomedical Research Centre for Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
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Original Article
Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1)
Esther Palonesa,b,
, Vicente Plazaa,b, Lidia Gonzalez-Queredac,d, Alba Segarra-Casasc,d, Luis Querole, Federico Bertolettif, María José Rodriguezd, Pía Gallanoc,d,g, Astrid Crespo-Lessmanna,b
Corresponding author
a Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain
b Department of Respiratory Medicine, Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
c Genetics and Microbiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain
d Genetics Department, Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
e Neuromuscular Disease Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
f Department of Digestive Pathology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
g Networked Biomedical Research Centre for Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain