{"title":"DHX30 基因突变导致的严重运动障碍和无语言的神经发育障碍(NEDMIAL):印度首次报告的两例病例。","authors":"Pradeep Kumar Gunasekaran, Yashu Sharma, Vikas Bhatia, Arushi Gahlot Saini","doi":"10.4103/aian.aian_253_24","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":null,"pages":null},"PeriodicalIF":1.9000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418768/pdf/","citationCount":"0","resultStr":"{\"title\":\"Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language (NEDMIAL) Due to DHX30 Mutations: First Indian Report of Two Cases.\",\"authors\":\"Pradeep Kumar Gunasekaran, Yashu Sharma, Vikas Bhatia, Arushi Gahlot Saini\",\"doi\":\"10.4103/aian.aian_253_24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":8036,\"journal\":{\"name\":\"Annals of Indian Academy of Neurology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418768/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Indian Academy of Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4103/aian.aian_253_24\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/16 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Indian Academy of Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4103/aian.aian_253_24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/16 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
期刊介绍:
The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.