<scp>RFC1</scp> ‐Related Disorder: In Vivo Evaluation of Spinal Cord Damage-Reference-Cited by-同舟云学术

RFC1 ‐Related Disorder: In Vivo Evaluation of Spinal Cord Damage

Published:2022-07-25 Issue:10 Volume:37 Page:2122-2128
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Rezende Thiago J.R.¹^ORCID,Schmitt Gabriel S.¹,de Lima Fabricio D.¹^ORCID,de Brito Mariana Rabelo¹,Matos Paula Camila A.A.P.²,Bonadia Luciana Cardoso³,Martinez Alberto R.M.¹,Cendes Fernando¹^ORCID,Pedroso José Luiz²^ORCID,Barsottini Orlando G.P.²,Marques Wilson⁴,França Marcondes Cavalcante¹^ORCID

Affiliation:

1. Department of Neurology School of Medical Sciences—University of Campinas (UNICAMP) Campinas São Paulo Brazil

2. Ataxia Unit, Department of Neurology Federal University of São Paulo (UNIFESP) São Paulo Brazil

3. Department of Medical Genetics School of Medical Sciences—University of Campinas (UNICAMP) Campinas São Paulo Brazil

4. Department of Neuroscience and Behavioral Science School of Medicine—University of São Paulo (USP) of Ribeirão Preto Ribeirão Preto Brazil

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.29169

Reference28 articles.

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

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

3. Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions

4. Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy

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

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

2. Multisystemic RFC1 -Related Disorder;Neurology Clinical Practice;2023-10

3. Advanced Structural Magnetic Resonance Imaging of the Spinal Cord: Technical Aspects and Clinical Use;Seminars in Ultrasound, CT and MRI;2023-10