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

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing

利用靶向平行长读长测序技术分析德国患者队列中的重复序列相关性共济失调

Erdmann, Hannes; Schaub, Annalisa; Lucas, Morghan C; Scholz, Veronika; Benet-Pagès, Anna; Becker, Kerstin; Dineiger, Christine; Mayer, Veronika; van Buren, Inga; Breithausen, Eva; Akbari, Karl; Cordts, Isabell; Sauer, Mayra; Schneider, Christine; Krakowsky, Rosanna; Schnabel, Franziska; Dunker, Konstanze; Fabritius, Lena; Gerb, Johannes; Grabova, Denis; Möhwald, Ken; Näher, Marius; Steinmetz, Karoline; Thiessen, Franziska; Jäck, Alexander; Schneider-Gold, Christiane; Zittel, Simone; Petersen, Christina; Schreyer, Isolde; Mämecke, Larissa; Wilfling, Sibylle; Wunderlich, Gilbert; Brenner, David; Hellenbroich, Yorck; Muhle, Kirsten; Huchtemann, Tessa; Claus, Inga; Klopstock, Thomas; Strupp, Michael; Levin, Johannes; Höglinger, Günter U; Huppert, Doreen; Becker-Bense, Sandra; Filippopulos, Filipp; Kilpert, Fabian; Leitão, Elsa; Kaya, Sabine; Depienne, Christel; Schöberl, Florian; Neuhann, Teresa; Holinski-Feder, Elke; Zwergal, Andreas; Abicht, Angela

Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy.

线粒体能量衰竭是 FLVCR1 相关感觉神经病变的根本原因。

Bertino Francesca, Zanin Venturini Diletta Isabella, Grasso Eleonora, Kopecka Joanna, Salio Chiara, Gnutti Barbara, Basnet Ram Manohar, Bellini Stefania, Mignani Luca, Zhao Boxun, Kleefeld Felix, Hentschel Andreas, Magnani Francesca, Fiorito Veronica, Abalai Raluca Elena, Metani Livia, Allocco Anna Lucia, Petrillo Sara, De Giorgio Francesco, Ammirata Giorgia, Salsano Ettore, Pareyson Davide, di Rocco Maja, Abicht Angela, McCourt Emily, Horvath Rita, Kölbel Heike, Larson Austin, Roos Andreas, Yu Timothy W, Finazzi Dario, Riganti Chiara, Tolosano Emanuela, Chiabrando Deborah

The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies

p.(Leu97Ile)变异扩展了NEFL相关夏科-马里-图斯神经病的遗传图谱

Oeztuerk, Menekse; Walli, Sara; Muhmann, David; Choueiri, Catherine; Dobelmann, Vera; Abicht, Angela; Leube, Barbara; Schara-Schmidt, Ulrike; Meuth, Sven G; Horvath, Rita; Lochmueller, Hanns; Roos, Andreas; Ruck, Tobias

Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative

作为NASGE计划的一部分,对超过29,000例疑似遗传性乳腺癌和卵巢癌(HBOC)病例的种系遗传数据进行了联合分析。

Henkel, Jan; Laner, Andreas; Locher, Melanie; Wohlfrom, Tobias; Neitzel, Birgit; Becker, Kerstin; Neuhann, Teresa; Abicht, Angela; Steinke-Lange, Verena; Klink, Barbara; Eichhorn, Birgit; Schmidt, Winfried; Berner, Daniel; Teubert, Anna; Holtorf, Anne; Heinrich, Sarah; Wildhardt, Gabriele; Schulze, Martin; von der Heyden, Laura; Hörtnagel, Konstanze; Steinberger, Daniela; Kleier, Saskia; Lorenz, Peter; Glaubitz, Ralf; Biskup, Saskia; Holinski-Feder, Elke

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

CHRNE相关先天性肌无力综合征患者队列的血液生物标志物指纹图谱

Della Marina Adela, Koutsoulidou Andrie, Natera-de Benito Daniel, Tykocinski Lars-Oliver, Tomazou Marios, Georgiou Kristia, Laner Andreas, Kölbel Heike, Nascimento Andres, Ortez Carlos, Abicht Angela, Thakur Basant Kumar, Lochmüller Hanns, Phylactou Leonidas A, Ruck Tobias, Schara-Schmidt Ulrike, Kale Dipali, Hentschel Andreas, Roos Andreas

Porcine Lymphotropic Herpesvirus (PLHV) Was Not Transmitted During Transplantation of Genetically Modified Pig Hearts into Baboons

将转基因猪心脏移植到狒狒体内时,猪淋巴嗜性疱疹病毒(PLHV)并未传播。

Jhelum, Hina; Bender, Martin; Reichart, Bruno; Abicht, Jan-Michael; Längin, Matthias; Kaufer, Benedikt B; Denner, Joachim

Novel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review

一种与睡眠相关性高运动性癫痫相关的新型NPRL3变异:病例报告及教育综述

Broggi, Serena; Poppert, Kai-Nicolas; Mauritz, Matthias; Kalss, Gudrun; Leitinger, Markus; Abicht, Angela; Trinka, Eugen; Rossini, Fabio

One Versus Two Screw Fixation in Minimally Invasive Hallux Valgus Surgery: A Systematic Review

微创拇外翻手术中单螺钉固定与双螺钉固定的比较:系统评价

Lewis, Thomas L; Fletcher, Lily; Vulcano, Ettore; Gonzalez, Tyler; Kaplan, Jonathan; Hong, Choon Chiet; Abicht, Bradley P; Ray, Robbie; Lam, Peter

Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease

对德国一组以运动神经元疾病为主要临床表型的患者队列中RFC1基因双等位致病性重复扩增的分析和发生情况

Schaub, Annalisa; Erdmann, Hannes; Scholz, Veronika; Timmer, Manuela; Cordts, Isabell; Günther, Rene; Reilich, Peter; Abicht, Angela; Schöberl, Florian

Hemodynamics in pig-to-baboon heterotopic thoracic cardiac xenotransplantation: Recovery from perioperative cardiac xenograft dysfunction and impairment by cardiac overgrowth

猪-狒狒异位胸腔心脏移植的血液动力学:围手术期心脏异种移植功能障碍和心脏过度生长造成的损害的恢复

Bender, Martin; Panelli, Alessandro; Reichart, Bruno; Radan, Julia; Mokelke, Maren; Neumann, Elisabeth; Buttgereit, Ines; Michel, Sebastian; Bauer, Andreas; Fresch, Ann Kathrin; Mayr, Tanja; Werner, Fabian; Egerer, Stefanie; Bähr, Andrea; Kessler, Barbara; Klymiuk, Nikolai; Ayares, David; Wolf, Eckhard; Hagl, Christian; Brenner, Paolo; Längin, Matthias; Abicht, Jan-Michael