ARTICLE
|
doi:10.20944/preprints202211.0273.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
intellectual disability; KAT6A syndrome; Lysine acetyltransferase 6 A; pantothenate; L-carnitine; histone acetylation
Online: 15 November 2022 (04:14:12 CET)
ARTICLE
|
doi:10.20944/preprints202311.0449.v1
Subject:
Biology And Life Sciences,
Life Sciences
Keywords:
Nemaline myopathy; actin polymerization; mitochondria; linoleic acid; L-carnitine
Online: 7 November 2023 (11:28:56 CET)
REVIEW
|
doi:10.20944/preprints202309.1526.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
neurodegeneration with brain iron accumulation (NBIA); pantothenate kinaseassociated neurodegeneration (PKAN); pantothenate kinase 2 (PANK2); pantothenate; pantethine; vitamin E; omega 3; -lipoic acid; L-carnitine; thiamine; fibroblasts; induced neurons; precision medicine
Online: 22 September 2023 (09:18:39 CEST)
ARTICLE
|
doi:10.20944/preprints202305.2069.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
BPAN; WDR45; antioxidants; autophagy; iron accumulation
Online: 31 May 2023 (03:32:17 CEST)
ARTICLE
|
doi:10.20944/preprints202407.1743.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
LIPT1; SIRT3; fibroblasts; lipoylation; bioenergetics; 2-ketoacid dehydrogenase
Online: 22 July 2024 (14:19:16 CEST)