De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability Article Swipe
Iris G. M. Wijnen
,
Hermine E. Veenstra‐Knol
,
Fleur Vansenne
,
Erica H. Gerkes
,
Tom de Koning
,
Yvonne J. Vos
,
Marina A.J. Tijssen
,
Deborah A. Sival
,
Niklas Darín
,
Els K. Vanhoutte
,
Mayke Oosterloo
,
Maartje Pennings
,
Bart P.C. van de Warrenburg
,
Erik-Jan Kamsteeg
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1038/s41431-020-0600-5
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1038/s41431-020-0600-5
Related Topics
Concepts
Intellectual disability
Frameshift mutation
Ataxia
Missense mutation
Nonsense
Genetics
Spasticity
Nonsense mutation
Medicine
Biology
Phenotype
Psychiatry
Physical medicine and rehabilitation
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41431-020-0600-5
- https://www.nature.com/articles/s41431-020-0600-5.pdf
- OA Status
- bronze
- Cited By
- 13
- References
- 21
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3012038350
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3012038350Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1038/s41431-020-0600-5Digital Object Identifier
- Title
-
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disabilityWork title
- Type
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articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-03-10Full publication date if available
- Authors
-
Iris G. M. Wijnen, Hermine E. Veenstra‐Knol, Fleur Vansenne, Erica H. Gerkes, Tom de Koning, Yvonne J. Vos, Marina A.J. Tijssen, Deborah A. Sival, Niklas Darín, Els K. Vanhoutte, Mayke Oosterloo, Maartje Pennings, Bart P.C. van de Warrenburg, Erik-Jan KamsteegList of authors in order
- Landing page
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https://doi.org/10.1038/s41431-020-0600-5Publisher landing page
- PDF URL
-
https://www.nature.com/articles/s41431-020-0600-5.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.nature.com/articles/s41431-020-0600-5.pdfDirect OA link when available
- Concepts
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Intellectual disability, Frameshift mutation, Ataxia, Missense mutation, Nonsense, Genetics, Spasticity, Nonsense mutation, Medicine, Biology, Phenotype, Psychiatry, Physical medicine and rehabilitation, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
13Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 5, 2024: 1, 2023: 2, 2022: 2, 2021: 1Per-year citation counts (last 5 years)
- References (count)
-
21Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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