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Neurogenetics

IF1.2
Papers65
Citations1219
Journal Papers 65
Publication Date
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Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three cases
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
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
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 review
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
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
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?
deleteNeurogenetics
IF1.2
delete2026-04-27
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PREAI
deleteKluwe, Lan; Hartung, Tabea; Rosahl, Steffen; Farschtschi, Said
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Astaxanthin protects human astrocytes (HA) against 6-hydroxydopamine-induced oxidative toxicity
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
deleteNeurogenetics
IF1.2
delete2026-04-18
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PREAI
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
deleteNeurogenetics
IF1.2
delete2026-04-18
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PREAI
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
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
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
deleteNeurogenetics
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 review
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 phenotype
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
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
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
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
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 lesion
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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