Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism Article Swipe
Simone Martinelli
,
Viviana Cordeddu
,
Serena Galosi
,
Ambra Lanzo
,
Eleonora Palma
,
Luca Pannone
,
Andrea Ciolfi
,
Michela Di Nottia
,
Teresa Rizza
,
Gianfranco Bocchinfuso
,
Alice Traversa
,
Viviana Caputo
,
Andrea Farrotti
,
Claudia Carducci
,
Laura Bernardini
,
Susanna Cogo
,
Maria Paglione
,
Martina Venditti
,
Anna Rita Bentivoglio
,
Joanne Ng
,
Manju A. Kurian
,
Laura Civiero
,
Elisa Greggio
,
Lorenzo Stella
,
Flavia Trettel
,
Miriam Sciaccaluga
,
Cristina Roseti
,
Rosalba Carrozzo
,
Sergio Fucile
,
Cristina Limatola
,
Elia Di Schiavi
,
Marco Tartaglia
,
Vincenzo Leuzzi
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1016/j.parkreldis.2020.02.003
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1016/j.parkreldis.2020.02.003
Related Topics
Concepts
Parkinsonism
Missense mutation
Biology
Phenotype
Genetics
In silico
Mutation
Exome sequencing
Gene
Medicine
Internal medicine
Disease
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.parkreldis.2020.02.003
- OA Status
- green
- Cited By
- 21
- References
- 15
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3006392340
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3006392340Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.parkreldis.2020.02.003Digital Object Identifier
- Title
-
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonismWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-02-14Full publication date if available
- Authors
-
Simone Martinelli, Viviana Cordeddu, Serena Galosi, Ambra Lanzo, Eleonora Palma, Luca Pannone, Andrea Ciolfi, Michela Di Nottia, Teresa Rizza, Gianfranco Bocchinfuso, Alice Traversa, Viviana Caputo, Andrea Farrotti, Claudia Carducci, Laura Bernardini, Susanna Cogo, Maria Paglione, Martina Venditti, Anna Rita Bentivoglio, Joanne Ng, Manju A. Kurian, Laura Civiero, Elisa Greggio, Lorenzo Stella, Flavia Trettel, Miriam Sciaccaluga, Cristina Roseti, Rosalba Carrozzo, Sergio Fucile, Cristina Limatola, Elia Di Schiavi, Marco Tartaglia, Vincenzo LeuzziList of authors in order
- Landing page
-
https://doi.org/10.1016/j.parkreldis.2020.02.003Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://hdl.handle.net/11577/3350481Direct OA link when available
- Concepts
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Parkinsonism, Missense mutation, Biology, Phenotype, Genetics, In silico, Mutation, Exome sequencing, Gene, Medicine, Internal medicine, DiseaseTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
21Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 2, 2024: 3, 2023: 5, 2022: 2, 2021: 5Per-year citation counts (last 5 years)
- References (count)
-
15Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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