{"title":"复合体I缺乏仍然是利氏综合征最常见的原因。","authors":"Shamima Rahman","doi":"10.1093/braincomms/fcae470","DOIUrl":null,"url":null,"abstract":"<p><p>This scientific commentary refers to 'Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment', by Kaiyrzhanov <i>et al</i>. (https://doi.org/10.1093/braincomms/fcae453).</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcae470"},"PeriodicalIF":4.1000,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11733768/pdf/","citationCount":"0","resultStr":"{\"title\":\"Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum.\",\"authors\":\"Shamima Rahman\",\"doi\":\"10.1093/braincomms/fcae470\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>This scientific commentary refers to 'Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment', by Kaiyrzhanov <i>et al</i>. (https://doi.org/10.1093/braincomms/fcae453).</p>\",\"PeriodicalId\":93915,\"journal\":{\"name\":\"Brain communications\",\"volume\":\"7 1\",\"pages\":\"fcae470\"},\"PeriodicalIF\":4.1000,\"publicationDate\":\"2024-12-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11733768/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brain communications\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/braincomms/fcae470\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain communications","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/braincomms/fcae470","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum.
This scientific commentary refers to 'Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment', by Kaiyrzhanov et al. (https://doi.org/10.1093/braincomms/fcae453).
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