A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia

Detalles Bibliográficos
Autores principales: Schöggl, Johanna, Siegert, Sandy, Boltshauser, Eugen, Freilinger, Michael, Schmidt, Wolfgang M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Regular Issue Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544690/
https://www.ncbi.nlm.nih.gov/pubmed/35560436
http://dx.doi.org/10.1002/mds.29054
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author Schöggl, Johanna
Siegert, Sandy
Boltshauser, Eugen
Freilinger, Michael
Schmidt, Wolfgang M.
author_facet Schöggl, Johanna
Siegert, Sandy
Boltshauser, Eugen
Freilinger, Michael
Schmidt, Wolfgang M.
author_sort Schöggl, Johanna
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spelling pubmed-95446902022-10-14 A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia Schöggl, Johanna Siegert, Sandy Boltshauser, Eugen Freilinger, Michael Schmidt, Wolfgang M. Mov Disord Regular Issue Articles John Wiley & Sons, Inc. 2022-05-12 2022-08 /pmc/articles/PMC9544690/ /pubmed/35560436 http://dx.doi.org/10.1002/mds.29054 Text en © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Regular Issue Articles
Schöggl, Johanna
Siegert, Sandy
Boltshauser, Eugen
Freilinger, Michael
Schmidt, Wolfgang M.
A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
title A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
title_full A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
title_fullStr A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
title_full_unstemmed A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
title_short A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
title_sort de novo missense nptx1 variant in an individual with infantile‐onset cerebellar ataxia
topic Regular Issue Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544690/
https://www.ncbi.nlm.nih.gov/pubmed/35560436
http://dx.doi.org/10.1002/mds.29054
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