
OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!
If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.
Requested Article:
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Carolin K. Scriba, Sarah J. Beecroft, Joshua S. Clayton, et al.
Brain (2020) Vol. 143, Iss. 10, pp. 2904-2910
Open Access | Times Cited: 75
Carolin K. Scriba, Sarah J. Beecroft, Joshua S. Clayton, et al.
Brain (2020) Vol. 143, Iss. 10, pp. 2904-2910
Open Access | Times Cited: 75
Showing 1-25 of 75 citing articles:
Molecular mechanisms underlying nucleotide repeat expansion disorders
Indranil Malik, Chase P. Kelley, Eric T. Wang, et al.
Nature Reviews Molecular Cell Biology (2021) Vol. 22, Iss. 9, pp. 589-607
Open Access | Times Cited: 263
Indranil Malik, Chase P. Kelley, Eric T. Wang, et al.
Nature Reviews Molecular Cell Biology (2021) Vol. 22, Iss. 9, pp. 589-607
Open Access | Times Cited: 263
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
Sanjog R. Chintalaphani, Sandy S. Pineda, Ira W. Deveson, et al.
Acta Neuropathologica Communications (2021) Vol. 9, Iss. 1
Open Access | Times Cited: 128
Sanjog R. Chintalaphani, Sandy S. Pineda, Ira W. Deveson, et al.
Acta Neuropathologica Communications (2021) Vol. 9, Iss. 1
Open Access | Times Cited: 128
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
Natalia Dominik, Stefania Magri, Riccardo Currò, et al.
Brain (2023) Vol. 146, Iss. 12, pp. 5060-5069
Open Access | Times Cited: 44
Natalia Dominik, Stefania Magri, Riccardo Currò, et al.
Brain (2023) Vol. 146, Iss. 12, pp. 5060-5069
Open Access | Times Cited: 44
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Jonas A. Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 27
Jonas A. Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 27
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Riccardo Ronco, Cecilia Perini, Riccardo Currò, et al.
Neurology (2022) Vol. 100, Iss. 5
Open Access | Times Cited: 39
Riccardo Ronco, Cecilia Perini, Riccardo Currò, et al.
Neurology (2022) Vol. 100, Iss. 5
Open Access | Times Cited: 39
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches
Laura Ivete Rudaks, Dennis Yeow, Karl Ng, et al.
The Cerebellum (2024) Vol. 23, Iss. 5, pp. 2152-2168
Open Access | Times Cited: 16
Laura Ivete Rudaks, Dennis Yeow, Karl Ng, et al.
The Cerebellum (2024) Vol. 23, Iss. 5, pp. 2152-2168
Open Access | Times Cited: 16
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Riccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Brain (2024) Vol. 147, Iss. 5, pp. 1887-1898
Open Access | Times Cited: 12
Riccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Brain (2024) Vol. 147, Iss. 5, pp. 1887-1898
Open Access | Times Cited: 12
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis
Elisa Vegezzi, Hiroyuki Ishiura, D. Cristopher Bragg, et al.
The Lancet Neurology (2024) Vol. 23, Iss. 7, pp. 725-739
Closed Access | Times Cited: 12
Elisa Vegezzi, Hiroyuki Ishiura, D. Cristopher Bragg, et al.
The Lancet Neurology (2024) Vol. 23, Iss. 7, pp. 725-739
Closed Access | Times Cited: 12
Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, et al.
Annals of Clinical and Translational Neurology (2025)
Open Access | Times Cited: 1
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, et al.
Annals of Clinical and Translational Neurology (2025)
Open Access | Times Cited: 1
Motor neuron pathology in CANVAS due to RFC1 expansions
Vincent Huin, Giulia Coarelli, Clément Guemy, et al.
Brain (2021) Vol. 145, Iss. 6, pp. 2121-2132
Open Access | Times Cited: 47
Vincent Huin, Giulia Coarelli, Clément Guemy, et al.
Brain (2021) Vol. 145, Iss. 6, pp. 2121-2132
Open Access | Times Cited: 47
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli, et al.
Brain (2022) Vol. 145, Iss. 11, pp. 3770-3775
Open Access | Times Cited: 34
Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli, et al.
Brain (2022) Vol. 145, Iss. 11, pp. 3770-3775
Open Access | Times Cited: 34
RFC1-Related Disease
Kayli C. Davies, David J. Szmulewicz, Louise A. Corben, et al.
Neurology Genetics (2022) Vol. 8, Iss. 5
Open Access | Times Cited: 33
Kayli C. Davies, David J. Szmulewicz, Louise A. Corben, et al.
Neurology Genetics (2022) Vol. 8, Iss. 5
Open Access | Times Cited: 33
Chronic Cough as a Genetic Neurological Disorder? Insights from Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)
Richard Turner, Barnaby Hirons, Andrea Cortese, et al.
Lung (2023) Vol. 201, Iss. 6, pp. 511-519
Open Access | Times Cited: 17
Richard Turner, Barnaby Hirons, Andrea Cortese, et al.
Lung (2023) Vol. 201, Iss. 6, pp. 511-519
Open Access | Times Cited: 17
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects
Andrea Cortese, Riccardo Currò, Elisa Vegezzi, et al.
Practical Neurology (2021) Vol. 22, Iss. 1, pp. 14-18
Open Access | Times Cited: 33
Andrea Cortese, Riccardo Currò, Elisa Vegezzi, et al.
Practical Neurology (2021) Vol. 22, Iss. 1, pp. 14-18
Open Access | Times Cited: 33
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing
Hannes Erdmann, Florian Schöberl, Mădălina Giurgiu, et al.
Brain (2022) Vol. 146, Iss. 5, pp. 1831-1843
Open Access | Times Cited: 27
Hannes Erdmann, Florian Schöberl, Mădălina Giurgiu, et al.
Brain (2022) Vol. 146, Iss. 5, pp. 1831-1843
Open Access | Times Cited: 27
Recessive cerebellar and afferent ataxias — clinical challenges and future directions
Marie Beaudin, Mario Manto, Jeremy D. Schmahmann, et al.
Nature Reviews Neurology (2022) Vol. 18, Iss. 5, pp. 257-272
Closed Access | Times Cited: 23
Marie Beaudin, Mario Manto, Jeremy D. Schmahmann, et al.
Nature Reviews Neurology (2022) Vol. 18, Iss. 5, pp. 257-272
Closed Access | Times Cited: 23
Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures
Julia A. Hisey, Elina A. Radchenko, Nicholas H Mandel, et al.
Nucleic Acids Research (2024) Vol. 52, Iss. 8, pp. 4361-4374
Open Access | Times Cited: 6
Julia A. Hisey, Elina A. Radchenko, Nicholas H Mandel, et al.
Nucleic Acids Research (2024) Vol. 52, Iss. 8, pp. 4361-4374
Open Access | Times Cited: 6
AAGGG repeat expansions trigger RFC1 -independent synaptic dysregulation in human CANVAS neurons
Connor J. Maltby, Amy Krans, Samantha Grudzien, et al.
Science Advances (2024) Vol. 10, Iss. 36
Open Access | Times Cited: 6
Connor J. Maltby, Amy Krans, Samantha Grudzien, et al.
Science Advances (2024) Vol. 10, Iss. 36
Open Access | Times Cited: 6
Genetic Testing of Movements Disorders: A Review of Clinical Utility
Dennis Yeow, Laura Ivete Rudaks, Sue‐Faye Siow, et al.
Tremor and Other Hyperkinetic Movements (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 5
Dennis Yeow, Laura Ivete Rudaks, Sue‐Faye Siow, et al.
Tremor and Other Hyperkinetic Movements (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 5
RFC1: Motifs and phenotypes
Violette Delforge, Céline Tard, Jean‐Baptiste Davion, et al.
Revue Neurologique (2024) Vol. 180, Iss. 5, pp. 393-409
Open Access | Times Cited: 5
Violette Delforge, Céline Tard, Jean‐Baptiste Davion, et al.
Revue Neurologique (2024) Vol. 180, Iss. 5, pp. 393-409
Open Access | Times Cited: 5
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards
Jevin Parmar, Nigel G. Laing, Marina Kennerson, et al.
Journal of Neurology Neurosurgery & Psychiatry (2024) Vol. 95, Iss. 11, pp. 992-1001
Open Access | Times Cited: 5
Jevin Parmar, Nigel G. Laing, Marina Kennerson, et al.
Journal of Neurology Neurosurgery & Psychiatry (2024) Vol. 95, Iss. 11, pp. 992-1001
Open Access | Times Cited: 5
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
Solveig Montaut, Nadège Diedhiou, P. Fahrer, et al.
Journal of Neurology (2021)
Closed Access | Times Cited: 30
Solveig Montaut, Nadège Diedhiou, P. Fahrer, et al.
Journal of Neurology (2021)
Closed Access | Times Cited: 30
Molecular Mechanisms in Pentanucleotide Repeat Diseases
Joana R. Loureiro, Ana F. Castro, Ana Sofia Figueiredo, et al.
Cells (2022) Vol. 11, Iss. 2, pp. 205-205
Open Access | Times Cited: 21
Joana R. Loureiro, Ana F. Castro, Ana Sofia Figueiredo, et al.
Cells (2022) Vol. 11, Iss. 2, pp. 205-205
Open Access | Times Cited: 21
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
Stefano Facchini, Natalia Dominik, Arianna Manini, et al.
Biomolecules (2023) Vol. 13, Iss. 10, pp. 1546-1546
Open Access | Times Cited: 12
Stefano Facchini, Natalia Dominik, Arianna Manini, et al.
Biomolecules (2023) Vol. 13, Iss. 10, pp. 1546-1546
Open Access | Times Cited: 12
RFC1repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic rates
Roisin Sullivan, Sai Chen, Christopher T. Saunders, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 4
Roisin Sullivan, Sai Chen, Christopher T. Saunders, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 4