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Neurogenetics

IF1.2
论文数65
被引数1220
期刊论文 65
发表时间
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Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three casesCSF1R相关脑白质病的临床及遗传学特征：三例回顾性分析
deleteNeurogenetics
IF1.2
delete2026-05-18
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PREAI
deleteXie, Sifen; Yang, Qiqiong; Pan, Mengqiu; Hu, Yepeng; Huang, Nayang; Chen, Zhongjie; Ye, Jinlong; Luo, Sheng; Wang, Zhanhang; Kuang, Zuying
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Mechanism of the N87D mutation in SOD1-atypical amyotrophic lateral sclerosis case report and literature review molecular mechanism of N87D mutation in SOD1超氧化物歧化酶1中N87D突变的机制：非典型肌萎缩侧索硬化症病例报告与文献综述，超氧化物歧化酶1中N87D突变的分子机制
deleteNeurogenetics
IF1.2
delete2026-05-12
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PREAI
deletePi, Chenghui; Liu, Yang; Jia, Zhihua; Zhang, Mingjie; Wang, Xiaolin; Zhao, He; Dong, Zhao; Yu, Shengyuan; Liu, Ruozhuo
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Spastic paraparesis linked to a rare presenilin-1 mutation与罕见早老蛋白1突变相关的痉挛性轻截瘫
deleteNeurogenetics
IF1.2
delete2026-05-11
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PREAI
deleteTeles, Catarina; Duraes, Joao; Faustino, Pedro; Baldeiras, Ines; Gens, Helena; Pereira, Miguel Tabuas; Almeida, Maria Rosario; Santana, Isabel
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Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief reviewKabuki综合征的多中心经验：包含三个新型KMT2D变异的八个病例系列及简要综述
deleteNeurogenetics
IF1.2
delete2026-05-09
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PREAI
deleteOzcelik, Firat; Duman, Nilgun; Kiraz, Aslihan; Oz, Ozlem; Demir, Mikail; Dogan, Alper; Ozturk, Selcan; Cicek, Dilek; Trabzon, Gul Direk; Ozkul, Yusuf; Per, Huseyin; Dundar, Munis
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A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome在两名希腊同胞中发现的AAAS基因的新型复合杂合性：扩展Allgrove综合征的基因型谱系
deleteNeurogenetics
IF1.2
delete2026-05-07
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PREAI
deleteSiokas, Vasileios; Sokratous, Maria; Tsika, Antonia; Liampas, Ioannis; Pepe, Georgia; Marogianni, Chrysoula; Papageorgiou, Elena; Nasioulas, Georgios; Stamati, Polyxeni; Ralli, Stylliani; Dardiotis, Efthimios
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Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplication颈内动脉和椎基底动脉迂曲扩张在脑小血管疾病和COL4A1/COL4A2重复患者中的研究
deleteNeurogenetics
IF1.2
delete2026-05-01
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PREAI
deleteYui, Ryotaro; Morizumi, Teruya; Ohashi, Nobuhiko; Nakamura, Katsuya; Masuko, Shinji; Ichinohe, Fumihito; Sekijima, Yoshiki
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Divergence in intra-tumor variant frequencies in sporadic vestibular schwannomas as a potential indication for mosaic NF2-related schwannomatosis?散发型前庭神经鞘瘤中肿瘤内变异频率的差异性：作为镶嵌型NF2相关神经鞘瘤的潜在指示？
deleteNeurogenetics
IF1.2
delete2026-04-27
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deleteOAAI
deleteKluwe, Lan; Hartung, Tabea; Rosahl, Steffen; Farschtschi, Said
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Astaxanthin protects human astrocytes (HA) against 6-hydroxydopamine-induced oxidative toxicity虾青素保护人星形胶质细胞(HA)免受6-羟基多巴胺诱导的氧化毒性
deleteNeurogenetics
IF1.2
delete2026-04-22
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PREAI
deleteAlallo, Sarah Hussein Ali; Althabet, Zahraa A.; Mohsin, Heba Akram
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Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches脑腱神经胆固醇沉积症在斯洛伐克患者中的表现及诊断方法经验
deleteNeurogenetics
IF1.2
delete2026-04-18
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deleteDurina, Pavol; Bandura, Andrej; Chandoga, Jan; Juhosova, Miriama; Repisky, Marcel; Jungova, Petra; Rohalova, Jana; Jaraskova, Dominika; Pohorelska, Viktoria; Dallemule, Silvia; Mattosova, Slavomira; Brennerova, Katarina; Okalova, Katarina; Bohuniczky, Imre; Bohmer, Daniel
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Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness成人发病型PLEC相关先天性肌无力综合征-肌病重叠，伴上肢优势性无力
deleteNeurogenetics
IF1.2
delete2026-04-18
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deleteJose, Angel; Azily, Aina Jasrul; Doyle, Katie; Stals, Karen; Lees, Hayley; McKenna, Caoimhe; McKnight, Amy Jayne; McConville, John; McMacken, Grace
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Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype-phenotype spectrum在一个近亲婚配的中国家族中，表现为前庭偏头痛和癫痫的纯合NOTCH3 c.3373G > A (p.(Glu1125Lys))：扩展基因型-表型谱
deleteNeurogenetics
IF1.2
delete2026-04-09
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PREAI
deleteLuo, Yong; Chen, Jian; Li, Qian; Zhang, Yun
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Neuroepigenetic regulation by long non-coding RNAs in sepsis-associated encephalopathy: cell-type programs and translational biomarkers长链非编码RNA在脓毒症相关脑病中的神经表观遗传调控：细胞类型程序和翻译生物标志物
deleteNeurogenetics
IF1.2
delete2026-04-06
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PREAI
deleteWang, Yun; Li, Xuexin; Sun, Bowen; He, Fei; Liu, Li
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Inhibition of phosphatase and tensin homolog induces chemical long-term potentiation in the dentate gyrus of hippocampus磷酸酶和张力蛋白同源物抑制诱导海马齿状回化学性长时程增强
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IF1.2
delete2026-03-26
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PREAI
deleteBabur, Ercan; Saray, Hatice; Suer, Cem; Dursun, Nurcan
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Expanding mutational and phenotypic spectrum of CST3-related leukoencephalopathy: a novel family and literature reviewCST3相关 leukoencephalopathy 的突变和表型谱扩展：一个新家族及文献综述
deleteNeurogenetics
IF1.2
delete2026-03-23
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PREAI
deleteZhong, Shaoping; Lian, Yangye; Liang, Jingzhen; Wang, Shuyang; Zhang, Qianqian; Liu, Jianying; Ding, Jing
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PLA2G6 Associated Neurodegeneration (PLAN): similar variant, divergent phenotypePLA2G6相关神经退行性疾病（PLAN）：相似变异，不同表型
deleteNeurogenetics
IF1.2
delete2026-03-23
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PREAI
deleteGupta, Nayan; Kumar, Mritunjai; Tiwari, Ashutosh; Rathinasabapathi, Muneeshwaran
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Thorough evaluation of a novel splice variant in a female patient with MED12-related intellectual disability对一位MED12相关智力障碍女性患者中一种新型剪接变体的全面评估
deleteNeurogenetics
IF1.2
delete2026-03-17
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PREAI
deleteTang, Hongmei; Han, Mingshan; Luo, Jie; Zhao, Xiuying; Gao, Ting; Li, Jinling; Zhang, Jing; He, Lu; Li, Zhibin; Huang, Mingwei; Xu, Kaishou
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Targeting ABC transporters in glioma: farnesiferols as potent agents against chemotherapy resistance靶向胶质瘤中的ABC转运蛋白：法尼塞佛醇作为对抗化疗耐药性的有效剂
deleteNeurogenetics
IF1.2
delete2026-03-14
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PREAI
deleteJamali, Hamidreza; Ghanbari, Mohamad Vosough; Rassouli, Fatemeh B.
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Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F新型遗传和神经成像对4F型夏科-马里-图思病的表征
deleteNeurogenetics
IF1.2
delete2026-03-03
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PREAI
deleteKupper, Hanna; Stuhn, Lara G.; Grundmann-Hauser, Kathrin; Grimm, Alexander Maximilian; Blankenburg, Markus; Haack, Tobias B.; Rosewich, Hendrik
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Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54扩展线粒体复合体缺陷54型的基因型谱
deleteNeurogenetics
IF1.2
delete2026-03-03
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PREAI
deleteLai, King Lam; Smith, Thomas B.; Maroofian, Reza; Zaki, Maha S.; Ramadesikan, Swetha; Reynolds, Tamara; Koboldt, Daniel C.; Hunter, Jesse M.; Vidaurre, Jorge; Atanasova, Mihaela; Marsden, Brian D.; Yue, Wyatt W.; Houlden, Henry; Taylor, Robert W.; Newman, William G.; O'keefe, Raymond T.
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EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesionEIF2AK2相关髓鞘生成不足性脑白质病，表现为先天性双侧声带麻痹和脊髓病变
deleteNeurogenetics
IF1.2
delete2026-02-23
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PREAI
deleteKawai, Yasuhiro; Ikeda, Azusa; Nagai, Koki; Takuya, Naruto; Aida, Noriko; Goto, Tomohide; Kuroda, Yukiko; Kurosawa, Kenji
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