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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

Molecular Profiling of Sinonasal Adenoid Cystic Carcinoma: Canonical and Noncanonical Gene Fusions and Mutation

鼻窦腺样囊性癌的分子谱分析:经典和非经典基因融合及突变

Skálová, Alena; Bradová, Martina; Agaimy, Abbas; Laco, Jan; Badual, Cécile; Ihrler, Stephan; Damjanov, Ivan; Rupp, Niels J; Bacchi, Carlos E; Mueller, Sarina; Ventelä, Sami; Zhang, Da; Comperat, Eva; Martínek, Petr; Šíma, Radek; Vaněček, Tomas; Grossmann, Petr; Steiner, Petr; Hájková, Veronka; Kovářová, Inka; Michal, Michal; Leivo, Ilmo

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

一项基于人群的观察性研究:在DA-CH区域患有脊髓性肌萎缩症的儿童中,使用onasemnogene abeparvovec进行基因治疗的疗效和安全性

Weiß, Claudia; Becker, Lena-Luise; Friese, Johannes; Blaschek, Astrid; Hahn, Andreas; Illsinger, Sabine; Schwartz, Oliver; Bernert, Günther; Hagen, Maja von der; Husain, Ralf A; Goldhahn, Klaus; Kirschner, Janbernd; Pechmann, Astrid; Flotats-Bastardas, Marina; Schreiber, Gudrun; Schara, Ulrike; Plecko, Barbara; Trollmann, Regina; Horber, Veronka; Wilichowski, Ekkehard; Baumann, Matthias; Klein, Andrea; Eisenkölbl, Astrid; Köhler, Cornelia; Stettner, Georg M; Cirak, Sebahattin; Hasselmann, Oswald; Kaindl, Angela M; Garbade, Sven F; Johannsen, Jessika; Ziegler, Andreas

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

确认并扩展TCEAL1相关神经发育障碍的表型

Albuainain, Fatimah; Shi, Yuwei; Lor-Zade, Sarah; Hüffmeier, Ulrike; Pauly, Melissa; Reis, André; Faivre, Laurence; Maraval, Julien; Bruel, Ange-Line; Them, Frédéric Tran Mau; Haack, Tobias B; Grasshoff, Ute; Horber, Veronka; Schot, Rachel; van Slegtenhorst, Marjon; Wilke, Martina; Barakat, Tahsin Stefan

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

5qSMA:对268例携带4个SMN2基因拷贝的患者进行标准化回顾性自然史评估

Vill, Katharina; Tacke, Moritz; König, Anna; Baumann, Matthias; Baumgartner, Manuela; Steinbach, Meike; Bernert, Guenther; Blaschek, Astrid; Deschauer, Marcus; Flotats-Bastardas, Marina; Friese, Johannes; Goldbach, Susanne; Gross, Martin; Günther, René; Hahn, Andreas; Hagenacker, Tim; Hauser, Erwin; Horber, Veronka; Illsinger, Sabine; Johannsen, Jessika; Kamm, Christoph; Koch, Jan C; Koelbel, Heike; Koehler, Cornelia; Kolzter, Kirsten; Lochmüller, Hanns; Ludolph, Albert; Mensch, Alexander; Meyer Zu Hoerste, Gerd; Mueller, Monika; Mueller-Felber, Wolfgang; Neuwirth, Christoph; Petri, Susanne; Probst-Schendzielorz, Kristina; Pühringer, Manuel; Steinbach, Robert; Schara-Schmidt, Ulrike; Schimmel, Mareike; Schrank, Bertold; Schwartz, Oliver; Schlachter, Kurt; Schwerin-Nagel, Annette; Schreiber, Gudrun; Smitka, Martin; Topakian, Raffi; Trollmann, Regina; Tuerk, Matthias; Theophil, Manuela; Rauscher, Christian; Vorgerd, Mathias; Walter, Maggie C; Weiler, Markus; Weiss, Claudia; Wilichowski, Ekkehard; Wurster, Claudia D; Wunderlich, Gilbert; Zeller, Daniel; Ziegler, Andreas; Kirschner, Janbernd; Pechmann, Astrid

Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe

欧洲共济失调型脑瘫患儿的患病率、临床特征、神经影像学和遗传学发现

Horber, Veronka; Andersen, Guro L; Arnaud, Catherine; De La Cruz, Javier; Dakovic, Ivana; Greitane, Andra; Hensey, Owen; Himmelmann, Kate; Hollody, Katalin; Horridge, Karen; Künzle, Christoph T; Marcelli, Marco; Ortibus, Els; Papavasiliou, Antigone; Perra, Oliver; Platt, Mary J; Rackauskaite, Gija; Sigurdardottir, Solveig; Troha Gergeli, Anja; Virella, Daniel; Krägeloh-Mann, Ingeborg; Sellier, Elodie

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany

德国新生儿脊髓性肌萎缩症筛查——从试点项目到全国筛查

Müller-Felber, Wolfgang; Blaschek, Astrid; Schwartz, Oliver; Gläser, Dieter; Nennstiel, Uta; Brockow, Inken; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Durner, Jürgen; Eggermann, Katja; Kölbel, Heike; Müller, Christine; Hannibal, Iris; Olgemöller, Bernd; Schara, Ulrike; von Moers, Arpad; Trollmann, Regina; Johannssen, Jessika; Ziegler, Andreas; Cirak, Sebahattin; Hahn, Andreas; von der Hagen, Maja; Weiss, Claudia; Schreiber, Gudrun; Flotats-Bastardas, Marina; Hartmann, Hans; Illsinger, Sabine; Pechmann, Astrid; Horber, Veronka; Kirschner, Jan; Köhler, Cornelia; Winter, Benedikt; Friese, Johannes; Vill, Katharina

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

新生儿脊髓性肌萎缩症诊断中高敏心肌肌钙蛋白I(hs-cTnI)浓度

Johannsen, Jessika; Weiss, Deike; Driemeyer, Joenna; Olfe, Jakob; Stute, Fridrike; Müller, Ferdinand; Schütt, Marion; Trollmann, Regina; Kölbel, Heike; Schara-Schmidt, Ulrike; Kirschner, Janbernd; Pechmann, Astrid; Blaschek, Astrid; Horber, Veronka; Denecke, Jonas

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

一项前瞻性 3 年 SMArtCARE 注册研究显示,在接受诺西那生治疗期间,2 型和 3 型 SMA 非行走患儿的上肢功能得到改善。

Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Walter, Maggie C; Bertsche, Astrid; Vill, Katharina; Baumann, Matthias; Baumgartner, Manuela; Cordts, Isabell; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Friese, Johannes; Günther, René; Hahn, Andreas; Horber, Veronka; Husain, Ralf A; Illsinger, Sabine; Jahnel, Jörg; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; von Moers, Arpad; Schwerin-Nagel, Annette; Reihle, Christof; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Trollmann, Regina; Weiler, Markus; Weiß, Claudia; Wiegand, Gert; Wilichowski, Ekkehard; Ziegler, Andreas; Lochmüller, Hanns; Kirschner, Janbernd

Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies

学龄儿童和青少年神经超声检查正常值及其在遗传性神经病中的应用

Grimm, Anna-Sophie; Schubert, Charlotte; Grimm, Alexander; Stahl, Jan-Hendrik; Küpper, Hanna; Horber, Veronka; Kegele, Josua; Willikens, Sophia; Wittlinger, Julia; Serna-Higuita, Lina; Winter, Natalie; Groeschel, Samuel