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Memoir of the early years of the CSHL summer Drosophila neurobiology course: 1984-1985. CSHL 夏季果蝇神经生物学课程早年回忆录：1984-1985 年。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-09-02 DOI: 10.1080/01677063.2024.2393884
Ralph J Greenspan
{"title":"Memoir of the early years of the CSHL summer <i>Drosophila</i> neurobiology course: 1984-1985.","authors":"Ralph J Greenspan","doi":"10.1080/01677063.2024.2393884","DOIUrl":"10.1080/01677063.2024.2393884","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"140-143"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bill Pak: reflections on mentoring. Bill Pak：关于指导的思考。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-07-08 DOI: 10.1080/01677063.2024.2374054
Martin G Burg
{"title":"Bill Pak: reflections on mentoring.","authors":"Martin G Burg","doi":"10.1080/01677063.2024.2374054","DOIUrl":"10.1080/01677063.2024.2374054","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"175-177"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1. 一种家族性夏科-玛丽-牙病（2d 型），由一种以前从未报道过的 GARS1 变异体引起。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-11-26 DOI: 10.1080/01677063.2024.2428949
Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro
{"title":"A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in <i>GARS1</i>.","authors":"Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro","doi":"10.1080/01677063.2024.2428949","DOIUrl":"10.1080/01677063.2024.2428949","url":null,"abstract":"<p><p>Genetic variants in <i>GARS1</i> gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness in the upper extremities carrying two <i>in cis</i> missense variants in <i>GARS1</i> gene: the c.803C > T, p.Thr268Ile and the c.842T > A, p.Met281Lys. The mutated allele segregates in affected member of the family, thus supporting its pathogenic role. Although a combined role of these variants cannot be excluded, we suggest a strong association of the variant c.842T > A (p.Met281Lys), never reported in patients neither in controls, with the disease. In Italian patients, pathogenic variants in <i>GARS1</i> are very rare, so our result expands the mutational spectrum of the gene and the genetic epidemiology of CMT2D.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"184-186"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The roles of blur and eye convergence in distance estimation in larval zebrafish. 斑马鱼幼体模糊和眼球收敛在距离估计中的作用。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 DOI: 10.1080/01677063.2024.2432033
Biswadeep Khan, Julie Lee Semmelhack
{"title":"The roles of blur and eye convergence in distance estimation in larval zebrafish.","authors":"Biswadeep Khan, Julie Lee Semmelhack","doi":"10.1080/01677063.2024.2432033","DOIUrl":"10.1080/01677063.2024.2432033","url":null,"abstract":"<p><p>Animals use an array of visual cues to gauge distance, and their underlying neural mechanisms remain largely unknown. Zebrafish larvae execute different hunting behaviors depending on distance to the prey, providing a simple model system in which to study this process. To identify distance cues, we presented equivalent prey stimuli at increasing distance and recorded hunting behaviors. We found that the initial convergence angle was lower for more distant prey, suggesting that they are able to gauge distance to the prey via monocular cues. We investigated blur as a possible monocular cue, and found that by artificially blurring the stimulus, we were able to reduce initial convergence and strike probability. This implicates blur as a distance cue in zebrafish prey capture, adds to our knowledge of how larvae are able to visually target and accurately capture prey.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"195-200"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A memorial piece of my experience with Bill Pak. 我与比尔-帕克的一段纪念经历。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-08-20 DOI: 10.1080/01677063.2024.2391887
Mamiko Ozaki
{"title":"A memorial piece of my experience with Bill Pak.","authors":"Mamiko Ozaki","doi":"10.1080/01677063.2024.2391887","DOIUrl":"10.1080/01677063.2024.2391887","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"159-161"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical application of whole-exome sequencing analysis in childhood epilepsy. 全外显子组测序分析在儿童癫痫中的临床应用。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-09 DOI: 10.1080/01677063.2024.2434869
Meral Gavaz, Elif S Aslan, Selahattin Tekeş
{"title":"Clinical application of whole-exome sequencing analysis in childhood epilepsy.","authors":"Meral Gavaz, Elif S Aslan, Selahattin Tekeş","doi":"10.1080/01677063.2024.2434869","DOIUrl":"10.1080/01677063.2024.2434869","url":null,"abstract":"<p><p>The swift updates of public databases and advancements in next-generation sequencing (NGS) technologies have enhanced the genetic identification capacities of epilepsy clinics. This study aimed to evaluate the diagnostic efficacy of NGS in pediatric epilepsy patients as a whole and to present the data obtained in the whole exome sequence analysis. We enrolled 40 children with suspected childhood epilepsy in this study. All patients underwent evaluation by a clinical geneticist or pediatric neurologist and the molecular genetic analysis of those children was performed by whole-exome sequencing (WES). Out of the 40 patients, 12 (30%) received a genetic diagnosis, involving 14 mutations across 13 genes. The cumulative positive diagnostic yield was 30%. Twelve of these patients were identified to have 5 variants previously documented as pathogenic, 9 variants classified as likely pathogenic, and 5 novel variants that have not been reported before. The outcomes indicate that whole-exome sequencing offers great benefits in clinical patient diagnosis, particularly in terms of detecting diagnostic variants. This study underscored the significance of whole exome sequencing (WES) studies, where only a broad gene set is examined in epilepsy patients. This approach has the potential to establish gene-specific phenotypic profiles, particularly by uncovering novel candidate genes in epilepsy patients with well-defined phenotypes. Additionally, conducting validation studies on variants of uncertain clinical significance could enhance the outcome yield.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"187-194"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tribute to Dr. William L. Pak. 向白威廉博士致敬。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-06-19 DOI: 10.1080/01677063.2024.2366468
Hiroyuki Matsumoto
{"title":"Tribute to Dr. William L. Pak.","authors":"Hiroyuki Matsumoto","doi":"10.1080/01677063.2024.2366468","DOIUrl":"10.1080/01677063.2024.2366468","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"157-158"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023. 热情邂逅机遇：纪念威廉·l·帕克，1932-2023。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-02 DOI: 10.1080/01677063.2024.2419107
Randall Shortridge
{"title":"Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023.","authors":"Randall Shortridge","doi":"10.1080/01677063.2024.2419107","DOIUrl":"https://doi.org/10.1080/01677063.2024.2419107","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"38 4","pages":"178-179"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
In honor of Bill Pak: my journey to the discovery of a rhodopsin gene. 为了纪念比尔·帕克：我发现视紫红质基因的旅程。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-26 DOI: 10.1080/01677063.2024.2443599
Joseph E O'Tousa
{"title":"In honor of Bill Pak: my journey to the discovery of a rhodopsin gene.","authors":"Joseph E O'Tousa","doi":"10.1080/01677063.2024.2443599","DOIUrl":"10.1080/01677063.2024.2443599","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"162-164"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Special section in honor of William L. Pak, a neurogenetics pioneer. 特别纪念威廉·l·帕克，神经遗传学先驱。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-26 DOI: 10.1080/01677063.2024.2443189
Barry Ganetzky
{"title":"Special section in honor of William L. Pak, a neurogenetics pioneer.","authors":"Barry Ganetzky","doi":"10.1080/01677063.2024.2443189","DOIUrl":"10.1080/01677063.2024.2443189","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"144"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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