The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy Article Swipe
Rocío N. Villar‐Quiles
,
Maja von der Hagen
,
Corinne Métay
,
Victoria González
,
Sandra Donkervoort
,
Enrico Bertini
,
Claudia Castiglioni
,
Denys Chaigne
,
Jaume Colomer
,
María L. Cuadrado
,
Marianne de Visser
,
Isabelle Desguerre
,
B. Eymard
,
Nathalie Goemans
,
Angela M. Kaindl
,
Emmanuelle Lagrue
,
Jürg Lütschg
,
Edoardo Malfatti
,
M. Mayer
,
Luciano Merlini
,
David Orlikowski
,
Ulrike Reuner
,
Mustafa A. Salih
,
Beate Schlotter‐Weigel
,
Mechthild Stoetter
,
Volker Straub
,
Haluk Topaloğlu
,
J. Andoni Urtizberea
,
Anneke J. van der Kooi
,
Ekkehard Wilichowski
,
Norma B. Romero
,
Michel Fardeau
,
Carsten G. Bönnemann
,
B. Estournet
,
Pascale Richard
,
Susana Quijano‐Roy
,
Ulrike Schara
,
Ana Ferreiro
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1212/wnl.0000000000010327
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1212/wnl.0000000000010327
Our results inform clinical practice, improving diagnosis and management, and represent a major breakthrough for clinical trial readiness in this not so rare disease.
Related Topics
Metadata
- Type
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- Language
- en
- Landing Page
- https://doi.org/10.1212/wnl.0000000000010327
- OA Status
- green
- Cited By
- 64
- References
- 38
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3049342881
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3049342881Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1212/wnl.0000000000010327Digital Object Identifier
- Title
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The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathyWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2020Year of publication
- Publication date
-
2020-08-14Full publication date if available
- Authors
-
Rocío N. Villar‐Quiles, Maja von der Hagen, Corinne Métay, Victoria González, Sandra Donkervoort, Enrico Bertini, Claudia Castiglioni, Denys Chaigne, Jaume Colomer, María L. Cuadrado, Marianne de Visser, Isabelle Desguerre, B. Eymard, Nathalie Goemans, Angela M. Kaindl, Emmanuelle Lagrue, Jürg Lütschg, Edoardo Malfatti, M. Mayer, Luciano Merlini, David Orlikowski, Ulrike Reuner, Mustafa A. Salih, Beate Schlotter‐Weigel, Mechthild Stoetter, Volker Straub, Haluk Topaloğlu, J. Andoni Urtizberea, Anneke J. van der Kooi, Ekkehard Wilichowski, Norma B. Romero, Michel Fardeau, Carsten G. Bönnemann, B. Estournet, Pascale Richard, Susana Quijano‐Roy, Ulrike Schara, Ana FerreiroList of authors in order
- Landing page
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https://doi.org/10.1212/wnl.0000000000010327Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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greenOpen access status per OpenAlex
- OA URL
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https://www.ncbi.nlm.nih.gov/pmc/articles/7713742Direct OA link when available
- Concepts
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Scoliosis, Medicine, Myopathy, Internal medicine, Pathology, SurgeryTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
64Total citation count in OpenAlex
- Citations by year (recent)
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2025: 11, 2024: 16, 2023: 11, 2022: 11, 2021: 14Per-year citation counts (last 5 years)
- References (count)
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38Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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