Multisystemic <i>RFC1</i> -Related Disorder-Reference-Cited by-同舟云学术

Multisystemic RFC1 -Related Disorder

Published:2023-10 Issue:5 Volume:13 Page:
ISSN:2163-0402
Container-title:Neurology Clinical Practice
language:en
Short-container-title:Neur Clin Pract

Author:

Malaquias Maria João¹^ORCID,Braz Luis¹^ORCID,Santos Silva Cláudia¹^ORCID,Damásio Joana¹^ORCID,Jorge André¹^ORCID,Lemos João M.¹^ORCID,Campos Catarina F.¹^ORCID,Garcez Daniela¹^ORCID,Oliveira Santos Miguel¹^ORCID,Velon Ana G.¹^ORCID,Caetano André¹^ORCID,Calejo Margarida¹^ORCID,Fernandes Preza¹,Rego Ângela¹^ORCID,Castro Sandra¹^ORCID,Sousa Ana P.¹^ORCID,Cardoso Marcio Neves¹^ORCID,Fernandes Marco¹^ORCID,Pinto Miguel M.¹^ORCID,Taipa Ricardo¹^ORCID,Lopes Ana M.¹^ORCID,Oliveira Jorge¹^ORCID,Magalhães Marina¹^ORCID,

Affiliation:

1. Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/CPJ.0000000000200190

Reference26 articles.

1. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

2. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

3. Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

4. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome

5. RFC1-Related Disease

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