Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions-Reference-Cited by-同舟云学术

Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions

Published:2020-10 Issue:10 Volume:35 Page:1889-1890
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Silva Schmitt Gabriel¹,Martinez Alberto R.M.¹,Graça Felipe F.¹,Lima Fabrício Diniz¹^ORCID,Bonadia Luciana C.²,Amorim Bárbara Juarez³,Nucci Anamarli¹,França Marcondes Cavalcante¹

Affiliation:

1. Neuromuscular Division, Department of Neurology University of Campinas Campinas Brazil

2. Department of Medical Genetics and Genomic Medicine University of Campinas Campinas Brazil

3. Nuclear Medicine Division, Department of Radiology University of Campinas Campinas Brazil

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28286

Reference3 articles.

1. RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy

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

3. No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late‐onset ataxia and MSA;Fan Y;Parkinsonism Relat Disord,2020

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2. An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome);Molecular Neurobiology;2024-06-19

3. RFC1: Motifs and phenotypes;Revue Neurologique;2024-05

4. Structural investigation of pathogenic RFC1 AAGGG pentanucleotide repeats reveals a role of G-quadruplex in dysregulated gene expression in CANVAS;Nucleic Acids Research;2024-01-24

5. Ataxia;Movement Disorders Phenomenology;2024