
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:
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
David Pellerin, Matt C. Danzi, Carlo Wilke, et al.
New England Journal of Medicine (2022) Vol. 388, Iss. 2, pp. 128-141
Open Access | Times Cited: 156
David Pellerin, Matt C. Danzi, Carlo Wilke, et al.
New England Journal of Medicine (2022) Vol. 388, Iss. 2, pp. 128-141
Open Access | Times Cited: 156
Showing 1-25 of 156 citing articles:
The mechanism of ferroptosis and its related diseases
Shijian Feng, Dan Tang, Yichang Wang, et al.
Molecular Biomedicine (2023) Vol. 4, Iss. 1
Open Access | Times Cited: 69
Shijian Feng, Dan Tang, Yichang Wang, et al.
Molecular Biomedicine (2023) Vol. 4, Iss. 1
Open Access | Times Cited: 69
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
Carlo Wilke, David Pellerin, David Mengel, et al.
Brain (2023) Vol. 146, Iss. 10, pp. 4144-4157
Closed Access | Times Cited: 65
Carlo Wilke, David Pellerin, David Mengel, et al.
Brain (2023) Vol. 146, Iss. 10, pp. 4144-4157
Closed Access | Times Cited: 65
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Céline Bonnet, David Pellerin, Virginie Roth, et al.
Scientific Reports (2023) Vol. 13, Iss. 1
Open Access | Times Cited: 52
Céline Bonnet, David Pellerin, Virginie Roth, et al.
Scientific Reports (2023) Vol. 13, Iss. 1
Open Access | Times Cited: 52
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
Giulia Coarelli, Marie Coutelier, Alexandra Dürr
The Lancet Neurology (2023) Vol. 22, Iss. 8, pp. 735-749
Open Access | Times Cited: 49
Giulia Coarelli, Marie Coutelier, Alexandra Dürr
The Lancet Neurology (2023) Vol. 22, Iss. 8, pp. 735-749
Open Access | Times Cited: 49
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease
Joel Wallenius, Efthymia Kafantari, Emma Jhaveri, et al.
The American Journal of Human Genetics (2023) Vol. 111, Iss. 1, pp. 82-95
Open Access | Times Cited: 48
Joel Wallenius, Efthymia Kafantari, Emma Jhaveri, et al.
The American Journal of Human Genetics (2023) Vol. 111, Iss. 1, pp. 82-95
Open Access | Times Cited: 48
As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort
Holger Hengel, David Pellerin, Carlo Wilke, et al.
Movement Disorders (2023) Vol. 38, Iss. 8, pp. 1557-1558
Open Access | Times Cited: 46
Holger Hengel, David Pellerin, Carlo Wilke, et al.
Movement Disorders (2023) Vol. 38, Iss. 8, pp. 1557-1558
Open Access | Times Cited: 46
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia
David Pellerin, Matt C. Danzi, M. Renaud, et al.
Clinical and Translational Medicine (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 33
David Pellerin, Matt C. Danzi, M. Renaud, et al.
Clinical and Translational Medicine (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 33
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
Zhongbo Chen, Emil K. Gustavsson, Hannah Macpherson, et al.
Movement Disorders (2024) Vol. 39, Iss. 3, pp. 486-497
Open Access | Times Cited: 31
Zhongbo Chen, Emil K. Gustavsson, Hannah Macpherson, et al.
Movement Disorders (2024) Vol. 39, Iss. 3, pp. 486-497
Open Access | Times Cited: 31
The expanding diagnostic toolbox for rare genetic diseases
Kristin D. Kernohan, Kym M. Boycott
Nature Reviews Genetics (2024) Vol. 25, Iss. 6, pp. 401-415
Closed Access | Times Cited: 30
Kristin D. Kernohan, Kym M. Boycott
Nature Reviews Genetics (2024) Vol. 25, Iss. 6, pp. 401-415
Closed Access | Times Cited: 30
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Indhu‐Shree Rajan‐Babu, Egor Dolzhenko, Michael A. Eberle, et al.
Nature Reviews Genetics (2024) Vol. 25, Iss. 7, pp. 476-499
Closed Access | Times Cited: 28
Indhu‐Shree Rajan‐Babu, Egor Dolzhenko, Michael A. Eberle, et al.
Nature Reviews Genetics (2024) Vol. 25, Iss. 7, pp. 476-499
Closed Access | Times Cited: 28
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
Analysis and benchmarking of small and large genomic variants across tandem repeats
Adam C. English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Nature Biotechnology (2024)
Closed Access | Times Cited: 26
Adam C. English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Nature Biotechnology (2024)
Closed Access | Times Cited: 26
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
David Pellerin, Felix Heindl, Carlo Wilke, et al.
EBioMedicine (2024) Vol. 102, pp. 105076-105076
Open Access | Times Cited: 25
David Pellerin, Felix Heindl, Carlo Wilke, et al.
EBioMedicine (2024) Vol. 102, pp. 105076-105076
Open Access | Times Cited: 25
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Karla P. Figueroa, Caspar Groß, Elena Buena‐Atienza, et al.
Nature Genetics (2024) Vol. 56, Iss. 6, pp. 1080-1089
Closed Access | Times Cited: 25
Karla P. Figueroa, Caspar Groß, Elena Buena‐Atienza, et al.
Nature Genetics (2024) Vol. 56, Iss. 6, pp. 1080-1089
Closed Access | Times Cited: 25
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
R. Ouyang, Linlin Wan, David Pellerin, et al.
EBioMedicine (2024) Vol. 102, pp. 105077-105077
Open Access | Times Cited: 20
R. Ouyang, Linlin Wan, David Pellerin, et al.
EBioMedicine (2024) Vol. 102, pp. 105077-105077
Open Access | Times Cited: 20
Detection of alternative DNA structures and its implications for human disease
Gabriel Matos‐Rodrigues, Julia A. Hisey, André Nussenzweig, et al.
Molecular Cell (2023) Vol. 83, Iss. 20, pp. 3622-3641
Open Access | Times Cited: 37
Gabriel Matos‐Rodrigues, Julia A. Hisey, André Nussenzweig, et al.
Molecular Cell (2023) Vol. 83, Iss. 20, pp. 3622-3641
Open Access | Times Cited: 37
Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B )
Thomas Wirth, Guillemette Clément, Clarisse Delvallée, et al.
Movement Disorders (2023) Vol. 38, Iss. 10, pp. 1950-1956
Open Access | Times Cited: 34
Thomas Wirth, Guillemette Clément, Clarisse Delvallée, et al.
Movement Disorders (2023) Vol. 38, Iss. 10, pp. 1950-1956
Open Access | Times Cited: 34
IntronicFGF14GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
David Pellerin, Carlo Wilke, Andreas Traschütz, et al.
Journal of Neurology Neurosurgery & Psychiatry (2023) Vol. 95, Iss. 2, pp. 175-179
Open Access | Times Cited: 33
David Pellerin, Carlo Wilke, Andreas Traschütz, et al.
Journal of Neurology Neurosurgery & Psychiatry (2023) Vol. 95, Iss. 2, pp. 175-179
Open Access | Times Cited: 33
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
Jean‐Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.
EBioMedicine (2023) Vol. 99, pp. 104931-104931
Open Access | Times Cited: 29
Jean‐Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.
EBioMedicine (2023) Vol. 99, pp. 104931-104931
Open Access | Times Cited: 29
Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
Luiz Eduardo Novis, Rodrigo Siqueira Soares Frezatti, David Pellerin, et al.
Neurology Genetics (2023) Vol. 9, Iss. 5
Open Access | Times Cited: 25
Luiz Eduardo Novis, Rodrigo Siqueira Soares Frezatti, David Pellerin, et al.
Neurology Genetics (2023) Vol. 9, Iss. 5
Open Access | Times Cited: 25
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
Pablo Iruzubieta, David Pellerin, Alberto Bergareche, et al.
European Journal of Neurology (2023) Vol. 30, Iss. 12, pp. 3828-3833
Open Access | Times Cited: 24
Pablo Iruzubieta, David Pellerin, Alberto Bergareche, et al.
European Journal of Neurology (2023) Vol. 30, Iss. 12, pp. 3828-3833
Open Access | Times Cited: 24
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
David Pellerin, Giulia Gobbo, Madeline Couse, et al.
Nature Genetics (2024) Vol. 56, Iss. 7, pp. 1366-1370
Closed Access | Times Cited: 17
David Pellerin, Giulia Gobbo, Madeline Couse, et al.
Nature Genetics (2024) Vol. 56, Iss. 7, pp. 1366-1370
Closed Access | Times Cited: 17
The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.
Clinical Genetics (2024) Vol. 105, Iss. 4, pp. 446-452
Open Access | Times Cited: 16
Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.
Clinical Genetics (2024) Vol. 105, Iss. 4, pp. 446-452
Open Access | Times Cited: 16
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
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 13
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 13