{"id":18963,"date":"2011-10-01T14:56:40","date_gmt":"2011-10-01T12:56:40","guid":{"rendered":"https:\/\/genomik-tuebingen.de\/?p=18963"},"modified":"2024-06-17T17:02:00","modified_gmt":"2024-06-17T15:02:00","slug":"acetazolamide-responsive-exercise-induced-episodic-ataxia-associated-with-a-novel-homozygous-dars2-mutation","status":"publish","type":"post","link":"https:\/\/cegat.com\/de\/acetazolamide-responsive-exercise-induced-episodic-ataxia-associated-with-a-novel-homozygous-dars2-mutation\/","title":{"rendered":"Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation."},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\" style=\"--awb-font-size:24px;\"><p style=\"text-align: justify;\">Synofzik M, Schicks J, Lindig T,\u00a0<strong>Biskup S,<\/strong>\u00a0Schmidt T, Hansel J, Lehmann-Horn F, Sch\u00f6ls L.<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:60px;--awb-padding-bottom:60px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-text fusion-title-size-two\" style=\"--awb-text-color:var(--awb-custom_color_1);--awb-margin-top-small:10px;--awb-margin-right-small:0px;--awb-margin-bottom-small:10px;--awb-margin-left-small:0px;\"><h2 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"margin:0;text-transform:none;--fontSize:36;line-height:var(--awb-typography1-line-height);\">Abstract<\/h2><\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-2 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-2\"><p><em>No abstract available<\/em><\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-3 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--link_hover_color: var(--awb-color6);--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:60px;--awb-padding-bottom:60px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-3 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-tabs fusion-tabs-1 classic vertical-tabs icon-position-left mobile-mode-carousel\" style=\"--awb-title-border-radius-top-left:0px;--awb-title-border-radius-top-right:0px;--awb-title-border-radius-bottom-right:0px;--awb-title-border-radius-bottom-left:0px;--awb-title-padding-top:10px;--awb-title-padding-right:50px;--awb-title-padding-bottom:10px;--awb-title-padding-left:50px;--awb-alignment:start;--awb-inactive-color:var(--awb-color7);--awb-title-text-color:var(--awb-color5);--awb-title-active-text-color:var(--awb-custom_color_1);--awb-background-color:var(--awb-color5);--awb-border-color:rgba(0,0,0,0.05);--awb-active-border-color:var(--awb-custom_color_1);\"><div class=\"nav\"><ul class=\"nav-tabs\" role=\"tablist\" aria-orientation=\"vertical\"><li class=\"active\" role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-b6ef51905975002a468\" aria-selected=\"true\" tabindex=\"0\" id=\"fusion-tab-b6ef51905975002a468\" href=\"#tab-b6ef51905975002a468\"><h3 class=\"fusion-tab-heading\">Referenzen<\/h3><\/a><\/li><li  role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-deb20b267fe241f0945\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-deb20b267fe241f0945\" href=\"#tab-deb20b267fe241f0945\"><h3 class=\"fusion-tab-heading\">Autorinnen\/Autoren<\/h3><\/a><\/li><\/ul><\/div><div class=\"tab-content\"><div class=\"tab-pane fade fusion-clearfix in active\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-b6ef51905975002a468\" id=\"tab-b6ef51905975002a468\">\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/21749991\/\" target=\"_blank\" rel=\"noopener\">Zur NCBI Publikation<\/a><\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-deb20b267fe241f0945\" id=\"tab-deb20b267fe241f0945\"><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":18,"featured_media":54928,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[53],"tags":[],"class_list":["post-18963","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-veroeffentlichungen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.<\/title>\n<meta name=\"description\" content=\"Diese sowie noch weitere Publikationen, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, 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