RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy-Reference-Cited by-同舟云学术

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RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy

Published:2020-04-24 Issue:7 Volume:35 Page:1277-1279
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Sullivan Roisin¹^ORCID,Yau Wai Yan¹²,Chelban Viorica¹²,Rossi Salvatore¹,O'Connor E.¹²,Wood Nicholas W.³²,Cortese Andrea¹⁴,Houlden Henry¹²^ORCID

Affiliation:

1. Department of Neuromuscular DiseaseQueen's Square Institute of Neurology London United Kingdom

2. The National Hospital for Neurology and Neurosurgery London United Kingdom

3. Movement DisordersQueen's Square Institute of Neurology London United Kingdom

4. Department of Brain and Behavioural ScienceUniversity of Pavia Pavia Italy

Funder

Ataxia UK

Medical Research Council Canada

Multiple System Atrophy Trust

Rosetrees Trust

Wellcome Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28074

Reference7 articles.

1. Second consensus statement on the diagnosis of multiple system atrophy

2. Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome)

3. When DLB, PD, and PSP masquerade as MSA

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

5. Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome

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

2. RFC1repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic rates;2024-02-29

3. 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

4. RFC1AAGGG pentanucleotide repeats form parallel G-quadruplex: structural implications for aberrant molecular cascades in CANVAS;2023-08-06

5. Recent updates in autonomic research: orthostatic hypotension and cognitive function in Parkinson disease and multiple system atrophy, the skin as a window into synuclein pathology, and RFC1 repeat expansions in hereditary sensory autonomic neuropathies;Clinical Autonomic Research;2023-07-26

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