Cargando…

AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia

Detalles Bibliográficos
Autores principales: Fevga, Christina, Ferraro, Federico, Breedveld, Guido J., Savant Sankhla, Charulata, Bonifati, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305163/
https://www.ncbi.nlm.nih.gov/pubmed/35072283
http://dx.doi.org/10.1002/mds.28928
_version_ 1784752259077242880
author Fevga, Christina
Ferraro, Federico
Breedveld, Guido J.
Savant Sankhla, Charulata
Bonifati, Vincenzo
author_facet Fevga, Christina
Ferraro, Federico
Breedveld, Guido J.
Savant Sankhla, Charulata
Bonifati, Vincenzo
author_sort Fevga, Christina
collection PubMed
description
format Online
Article
Text
id pubmed-9305163
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher John Wiley & Sons, Inc.
record_format MEDLINE/PubMed
spelling pubmed-93051632022-07-28 AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia Fevga, Christina Ferraro, Federico Breedveld, Guido J. Savant Sankhla, Charulata Bonifati, Vincenzo Mov Disord Regular Issue Articles John Wiley & Sons, Inc. 2022-01-24 2022-04 /pmc/articles/PMC9305163/ /pubmed/35072283 http://dx.doi.org/10.1002/mds.28928 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
Fevga, Christina
Ferraro, Federico
Breedveld, Guido J.
Savant Sankhla, Charulata
Bonifati, Vincenzo
AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
title AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
title_full AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
title_fullStr AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
title_full_unstemmed AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
title_short AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
title_sort aopep homozygous loss‐of‐function variant in an indian patient with early‐onset generalized dystonia
topic Regular Issue Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305163/
https://www.ncbi.nlm.nih.gov/pubmed/35072283
http://dx.doi.org/10.1002/mds.28928
work_keys_str_mv AT fevgachristina aopephomozygouslossoffunctionvariantinanindianpatientwithearlyonsetgeneralizeddystonia
AT ferrarofederico aopephomozygouslossoffunctionvariantinanindianpatientwithearlyonsetgeneralizeddystonia
AT breedveldguidoj aopephomozygouslossoffunctionvariantinanindianpatientwithearlyonsetgeneralizeddystonia
AT savantsankhlacharulata aopephomozygouslossoffunctionvariantinanindianpatientwithearlyonsetgeneralizeddystonia
AT bonifativincenzo aopephomozygouslossoffunctionvariantinanindianpatientwithearlyonsetgeneralizeddystonia