Cargando…

A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity

Detalles Bibliográficos
Autores principales: Kim, Taewoo, Ha, Su Hyeon, Yoo, Dallah, Park, Kyung Sun, Ahn, Tae-Beom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548081/
https://www.ncbi.nlm.nih.gov/pubmed/37482672
http://dx.doi.org/10.14802/jmd.23085
_version_ 1785115199322193920
author Kim, Taewoo
Ha, Su Hyeon
Yoo, Dallah
Park, Kyung Sun
Ahn, Tae-Beom
author_facet Kim, Taewoo
Ha, Su Hyeon
Yoo, Dallah
Park, Kyung Sun
Ahn, Tae-Beom
author_sort Kim, Taewoo
collection PubMed
description
format Online
Article
Text
id pubmed-10548081
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher The Korean Movement Disorder Society
record_format MEDLINE/PubMed
spelling pubmed-105480812023-10-05 A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity Kim, Taewoo Ha, Su Hyeon Yoo, Dallah Park, Kyung Sun Ahn, Tae-Beom J Mov Disord Letter to the Editor The Korean Movement Disorder Society 2023-09 2023-07-24 /pmc/articles/PMC10548081/ /pubmed/37482672 http://dx.doi.org/10.14802/jmd.23085 Text en Copyright © 2023 The Korean Movement Disorder Society https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Kim, Taewoo
Ha, Su Hyeon
Yoo, Dallah
Park, Kyung Sun
Ahn, Tae-Beom
A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity
title A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity
title_full A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity
title_fullStr A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity
title_full_unstemmed A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity
title_short A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity
title_sort novel variant of gch1 in dopa-responsive dystonia with oculogyric crises and intrafamilial phenotypic heterogeneity
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548081/
https://www.ncbi.nlm.nih.gov/pubmed/37482672
http://dx.doi.org/10.14802/jmd.23085
work_keys_str_mv AT kimtaewoo anovelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT hasuhyeon anovelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT yoodallah anovelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT parkkyungsun anovelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT ahntaebeom anovelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT kimtaewoo novelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT hasuhyeon novelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT yoodallah novelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT parkkyungsun novelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity
AT ahntaebeom novelvariantofgch1indoparesponsivedystoniawithoculogyriccrisesandintrafamilialphenotypicheterogeneity