日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

复发性、创始性及次等位基因变异构成了 Joubert 综合征的遗传格局

Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D'Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fische

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

儿童交替性偏瘫和快速发作性肌张力障碍-帕金森病 ATP1A3 突变的比较分析揭示了功能缺陷,但与疾病严重程度无关

Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A Pardo, Marlene U Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain

患有阵发性疼痛的儿童出现新的功能获得性 Nav1.9 突变

Jianying Huang, Mark Estacion, Peng Zhao, Fadia B Dib-Hajj, Betsy Schulman, Angela Abicht, Ingo Kurth, Knut Brockmann, Stephen G Waxman, Sulayman D Dib-Hajj

Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia

未组装甘氨酸受体的神经元内质网-高尔基体分类紊乱表明亚细胞加工改变是人类惊恐过度的原因

Natascha Schaefer, Christoph J Kluck, Kerry L Price, Heike Meiselbach, Nadine Vornberger, Stephan Schwarzinger, Stephanie Hartmann, Georg Langlhofer, Solveig Schulz, Nadja Schlegel, Knut Brockmann, Bryan Lynch, Cord-Michael Becker, Sarah C R Lummis, Carmen Villmann

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

COL12A1 的隐性和显性突变导致人类和小鼠出现新的 EDS/肌病重叠综合征

Yaqun Zou, Daniela Zwolanek, Yayoi Izu, Shreya Gandhy, Gudrun Schreiber, Knut Brockmann, Marcella Devoto, Zuozhen Tian, Ying Hu, Guido Veit, Markus Meier, Jörg Stetefeld, Debbie Hicks, Volker Straub, Nicol C Voermans, David E Birk, Elisabeth R Barton, Manuel Koch, Carsten G Bönnemann

CHARGE and Kabuki syndromes: a phenotypic and molecular link

CHARGE 和歌舞伎综合征:表型和分子联系

Yvonne Schulz, Luisa Freese, Johanna Mänz, Barbara Zoll, Christiane Völter, Knut Brockmann, Nina Bögershausen, Jutta Becker, Bernd Wollnik, Silke Pauli

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

脑海绵状畸形的突变检测率高,纳入标准严格:三分之一的病患为未成年人

Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, Winnie Schröder, Guntram Borck, Knut Brockmann, Miriam Elbracht, Christine Fauth, Andreas Ferbert, Leonie Freudenberg, Ute Grasshoff, Yorck Hellenbroich, Wolfram Henn, Sabine Hoffjan, Irina Hüning, G Christoph Korenke, Peter M Kroise

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

Kelch 样同源物 9 突变与早发性常染色体显性远端肌病有关

Sebahattin Cirak, Florian von Deimling, Shrikesh Sachdev, Wesley J Errington, Ralf Herrmann, Carsten Bönnemann, Knut Brockmann, Stephan Hinderlich, Tom H Lindner, Alice Steinbrecher, Katrin Hoffmann, Gilbert G Privé, Mark Hannink, Peter Nürnberg, Thomas Voit

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Aicardi-Goutières 综合征相关突变表明 SAMHD1 是先天免疫反应的调节器

Gillian I Rice, Jacquelyn Bond, Aruna Asipu, Rebecca L Brunette, Iain W Manfield, Ian M Carr, Jonathan C Fuller, Richard M Jackson, Teresa Lamb, Tracy A Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon P Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise