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

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia

一名患有婴儿期发病型小脑共济失调的个体携带NPTX1基因的新生错义变异

Schöggl, Johanna; Siegert, Sandy; Boltshauser, Eugen; Freilinger, Michael; Schmidt, Wolfgang M

Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome

儿童获得性脱髓鞘综合征中MOG抗体的时间动态变化

Wendel, Eva Maria; Thonke, Helen Sophie; Bertolini, Annikki; Baumann, Matthias; Blaschek, Astrid; Merkenschlager, Andreas; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Pohl, Daniela; Pritsch, Martin; Schanda, Kathrin; Schimmel, Mareike; Thiels, Charlotte; Waltz, Stephan; Wiegand, Gert; Anlar, Banu; Barisic, Nina; Blank, Christian; Breu, Markus; Broser, Philip; Della Marina, Adela; Diepold, Katharina; Eckenweiler, Matthias; Eisenkölbl, Astrid; Freilinger, Michael; Gruber-Sedlmayr, Ursula; Hackenberg, Annette; Iff, Tobias; Knierim, Ellen; Koch, Johannes; Kutschke, Georg; Leiz, Steffen; Lischetzki, Grischa; Nosadini, Margherita; Pschibul, Alexander; Reiter-Fink, Edith; Rohrbach, Doris; Salandin, Michela; Sartori, Stefano; Schlump, Jan-Ulrich; Stoffels, Johannes; Strautmanis, Jurgis; Tibussek, Daniel; Tüngler, Victoria; Utzig, Norbert; Reindl, Markus; Rostásy, Kevin

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

SUFU单倍体不足会导致Joubert综合征谱系中较轻的、可识别的神经发育表型。

Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczałuba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria

Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy

儿童免疫介导性神经病变中针对结节/旁结节蛋白的抗体

De Simoni, Desiree; Ricken, Gerda; Winklehner, Michael; Koneczny, Inga; Karenfort, Michael; Hustedt, Ulf; Seidel, Ulrich; Abdel-Mannan, Omar; Munot, Pinki; Rinaldi, Simon; Steen, Claudia; Freilinger, Michael; Breu, Markus; Seidl, Rainer; Reindl, Markus; Wanschitz, Julia; Lleixà, Cinta; Bernert, Günther; Wandinger, Klaus-Peter; Junker, Ralf; Querol, Luis; Leypoldt, Frank; Rostásy, Kevin; Höftberger, Romana

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

基于专家共识和现有证据的雷特综合征骨骼健康管理临床指南

Jefferson, Amanda; Leonard, Helen; Siafarikas, Aris; Woodhead, Helen; Fyfe, Sue; Ward, Leanne M; Munns, Craig; Motil, Kathleen; Tarquinio, Daniel; Shapiro, Jay R; Brismar, Torkel; Ben-Zeev, Bruria; Bisgaard, Anne-Marie; Coppola, Giangennaro; Ellaway, Carolyn; Freilinger, Michael; Geerts, Suzanne; Humphreys, Peter; Jones, Mary; Lane, Jane; Larsson, Gunilla; Lotan, Meir; Percy, Alan; Pineda, Mercedes; Skinner, Steven; Syhler, Birgit; Thompson, Sue; Weiss, Batia; Witt Engerström, Ingegerd; Downs, Jenny

Behavioural biomarkers of typical Rett syndrome: moving towards early identification

典型雷特综合征的行为生物标志物:迈向早期识别

Einspieler, Christa; Freilinger, Michael; Marschik, Peter B

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms

新的惊厥症突变为甘氨酸受体的组装、转运和激活机制提供了新的见解

Bode, Anna; Wood, Sian-Elin; Mullins, Jonathan G L; Keramidas, Angelo; Cushion, Thomas D; Thomas, Rhys H; Pickrell, William O; Drew, Cheney J G; Masri, Amira; Jones, Elizabeth A; Vassallo, Grace; Born, Alfred P; Alehan, Fusun; Aharoni, Sharon; Bannasch, Gerald; Bartsch, Marius; Kara, Bulent; Krause, Amanda; Karam, Elie G; Matta, Stephanie; Jain, Vivek; Mandel, Hanna; Freilinger, Michael; Graham, Gail E; Hobson, Emma; Chatfield, Sue; Vincent-Delorme, Catherine; Rahme, Jubran E; Afawi, Zaid; Berkovic, Samuel F; Howell, Owain W; Vanbellinghen, Jean-François; Rees, Mark I; Chung, Seo-Kyung; Lynch, Joseph W

Isolated cytochrome c oxidase deficiency as a cause of MELAS

孤立性细胞色素c氧化酶缺乏症是MELAS的病因之一。

Rossmanith, Walter; Freilinger, Michael; Roka, Julia; Raffelsberger, Thomas; Moser-Their, Karin; Prayer, Daniela; Bernert, Günther; Bittner, Reginald

Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomy

自身免疫性癫痫:部分癫痫患者体内存在针对血脑屏障两侧谷氨酸受体和双链DNA的自身抗体,这可能导致半球切除术后神经元死亡和脑脊液减少。

Ganor, Yonatan; Goldberg-Stern, Hadassa; Amrom, Dina; Lerman-Sagie, Tally; Teichberg, Vivian I; Pelled, Dori; Futerman, Anthony H; Zeev, Bruria Ben; Freilinger, Michael; Verheulpen, Denis; Van Bogaert, Patrick; Levite, Mia