TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients Article Swipe
Marco Foddis
,
Sonja Blumenau
,
Manuel Holtgrewe
,
Kimberly Paquette
,
Kaitlyn Westra
,
Isabel Alonso
,
Carmo Macário
,
Ana Morgadinho
,
Ana Graça Velon
,
Gustavo Cordeiro
,
Isabel Santana
,
Saana Mönkäre
,
Liina Kuuluvainen
,
Johanna Schleutker
,
Minna Pöyhönen
,
Liisa Myllykangas
,
Aleksandra Pavlović
,
Vladimir Kostić
,
Valerija Dobričić
,
Ebba Lohmann
,
Haşmet Hanağası
,
Mariana Santos
,
Gamze Güven
,
Başar Bılgıç
,
José Brás
,
Dieter Beule
,
Ulrich Dirnagl
,
Rita Guerreiro
,
Celeste Sassi
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1016/j.neurobiolaging.2022.11.013
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1016/j.neurobiolaging.2022.11.013
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.neurobiolaging.2022.11.013
- https://www.sciencedirect.com/science/article/pii/S0197458022002433
- OA Status
- bronze
- Cited By
- 2
- References
- 48
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4310012372
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4310012372Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.neurobiolaging.2022.11.013Digital Object Identifier
- Title
-
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patientsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-11-26Full publication date if available
- Authors
-
Marco Foddis, Sonja Blumenau, Manuel Holtgrewe, Kimberly Paquette, Kaitlyn Westra, Isabel Alonso, Carmo Macário, Ana Morgadinho, Ana Graça Velon, Gustavo Cordeiro, Isabel Santana, Saana Mönkäre, Liina Kuuluvainen, Johanna Schleutker, Minna Pöyhönen, Liisa Myllykangas, Aleksandra Pavlović, Vladimir Kostić, Valerija Dobričić, Ebba Lohmann, Haşmet Hanağası, Mariana Santos, Gamze Güven, Başar Bılgıç, José Brás, Dieter Beule, Ulrich Dirnagl, Rita Guerreiro, Celeste SassiList of authors in order
- Landing page
-
https://doi.org/10.1016/j.neurobiolaging.2022.11.013Publisher landing page
- PDF URL
-
https://www.sciencedirect.com/science/article/pii/S0197458022002433Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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bronzeOpen access status per OpenAlex
- OA URL
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https://www.sciencedirect.com/science/article/pii/S0197458022002433Direct OA link when available
- Concepts
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CADASIL, Leukoencephalopathy, Missense mutation, Cohort, Exome sequencing, Genetics, Medicine, Exome, Mutation, Pathology, Disease, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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2Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
-
48Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| referenced_works | https://openalex.org/W1522038827, https://openalex.org/W4283753341, https://openalex.org/W3018807282, https://openalex.org/W1568752625, https://openalex.org/W2884070953, https://openalex.org/W4200449169, https://openalex.org/W2886300113, https://openalex.org/W2168133698, https://openalex.org/W2208544721, https://openalex.org/W2051841729, https://openalex.org/W2132378736, https://openalex.org/W1968725150, https://openalex.org/W2896420254, https://openalex.org/W6748818873, https://openalex.org/W2910161702, https://openalex.org/W2797328566, https://openalex.org/W2060996851, https://openalex.org/W2043959346, https://openalex.org/W2004777284, https://openalex.org/W6600106431, https://openalex.org/W3161101729, https://openalex.org/W3136731920, https://openalex.org/W4220953441, https://openalex.org/W6751629904, https://openalex.org/W1982983059, https://openalex.org/W3025327670, https://openalex.org/W2123448069, https://openalex.org/W2104901197, https://openalex.org/W2009080071, https://openalex.org/W2002175273, https://openalex.org/W6793747197, https://openalex.org/W2889975526, https://openalex.org/W2155180146, https://openalex.org/W2075172390, https://openalex.org/W2051978340, https://openalex.org/W2914607174, https://openalex.org/W2786759697, https://openalex.org/W2909830543, https://openalex.org/W2011495655, https://openalex.org/W2120864615, https://openalex.org/W3044119584, https://openalex.org/W3128687882, https://openalex.org/W3198715351, https://openalex.org/W3152927034, https://openalex.org/W4394666350, https://openalex.org/W2802740196, https://openalex.org/W2491995, https://openalex.org/W2789828621 |
| referenced_works_count | 48 |
| abstract_inverted_index | |
| cited_by_percentile_year.max | 95 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5045681063 |
| countries_distinct_count | 6 |
| institutions_distinct_count | 29 |
| corresponding_institution_ids | https://openalex.org/I39343248, https://openalex.org/I7877124 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.75 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.58582048 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |