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

Adjuvant Aspirin Treatment in PIK3CA-Mutated Colon Cancer Patients: The SAKK 41/13 Prospective Randomized Placebo-Controlled Double-Blind Trial

PIK3CA突变结肠癌患者的阿司匹林辅助治疗:SAKK 41/13前瞻性随机安慰剂对照双盲试验

Güller, Ulrich; Hayoz, Stefanie; Horber, Daniel; Jochum, Wolfram; De Dosso, Sara; Koeberle, Dieter; Schacher, Sabina; Inauen, Roman; Stahl, Michael; Delaunoit, Thierry; Ettrich, Thomas; Bodoky, György; Michel, Pierre; Koessler, Thibaud; Rothgiesser, Karin; Calmonte, Sandra; Joerger, Markus

OsCYP706C2 diverts rice strigolactone biosynthesis to a noncanonical pathway branch

OsCYP706C2 将水稻独脚金内酯的生物合成转移到非典型途径分支

Changsheng Li, Imran Haider, Jian You Wang, Pierre Quinodoz, Hernando G Suarez Duran, Lucía Reyes Méndez, Robin Horber, Valentina Fiorilli, Cristina Votta, Luisa Lanfranco, Samara M Correia de Lemos, Lucile Jouffroy, Baptiste Moegle, Laurence Miesch, Alain De Mesmaeker, Marnix H Medema, Salim Al-Bab

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

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

Reversal of Long-Term Weight Regain After Roux-en-Y Gastric Bypass Using Liraglutide or Surgical Revision. A Prospective Study

使用利拉鲁肽或手术修复逆转 Roux-en-Y 胃旁路术后长期体重反弹:一项前瞻性研究

Horber, Fritz F; Steffen, Rudolf

Correction to: Reversal of Long-Term Weight Regain After Roux-en-Y Gastric Bypass Using Liraglutide or Surgical Revision. A Prospective Study

更正:利拉鲁肽或手术修复逆转 Roux-en-Y 胃旁路术后长期体重反弹:一项前瞻性研究

Horber, Fritz F; Steffen, Rudolf

Malignant hyperthermia testing in probands with NO adverse anesthetic reaction

对无麻醉不良反应的受试者进行恶性高热试验

Krivosic-Horber, René; Dalmas, Anne-Frédérique; Brasdefer, Etienne; Monnier, Nicole; Deken, Valérie; Krivosic-Horber, René; Gonzalez, Asensio; Singer, Martine; Noppen, Christoph; Urwyler, Albert; Girard, Thierry; Fisher, Nickla; Wright, Helena; Hopkins, Philip; Kraft, B; Hahn, R; Markstaller, K; Kress, HG; Baines, Kathie Nicoll; Fiszer, Dorota; Hopkins, Philip; Shaw, Marie-Anne; Kazantseva, Angelina A; Lebedinskii, Konstantin M; Underwood, Rosie; Fisher, Nickla; Fiszer, Dorota; Hopkins, Philip; Shaw, Marie-Anne; Mosca, Barbara; Delbono, Osvaldo; Messi, Maria Laura; Bergamelli, Leda; Vukcevic, Mirko; Lopez, Ruben; Treves, Susan; Nishi, Miyuki; Takeshima, Hiroshi; Zorzato, Francesco; Tegazzin, Vincenzo; Orrico, Alfredo; Galli, Lucia; Fanin, Marina; Rossi, Daniela; Andrade, Pamela Vieira; Santos, Joilson Moura; Silva Neves Junior, José Apolinário; Gomes do Amaral, José Luiz; Almeida da Silva, Helga Cristina; Glauber, Violeta; Berkenstadt, Haim; Marques, Acílio; Dourado, Catarina; Marques, Carla Retroz; Cabral, Raquel; Fiszer, Dorota; Hobson, Sarah; Fisher, Nickla; Shaw, Marie-Anne; Shepherd, Sarah; Robinson, Rachel; Charlton, Ruth; Hopkins, Phil; Pinyavat, Teeda; Wong, Cynthia; Rosenberg, Henry; Stowell, Kathryn; Langton, Elaine; Pollock, Neil; Schiemann, Anja; Johannsen, Stephan; Mögele, Susanne; Roewer, Norbert; Schuster, Frank; Islander, Gunilla; Theuerkauf, Nils; Mellert, Fritz; Guenther, Ulf; Grütter, Florian; Girard, Thierry; Baines, Kathie Nicoll; Shaw, Marie-Anne; Hope, Ian A; Müller, Clemens R; Skirde, Judith; Hartung, Edmund; Anetseder, Martin; Ricci, Yvonne; Islander, Gunilla; Schuster, Frank; Petersen, Bodil; Kaisers, Udo X; Rueffert, Henrik; Fiszer, Dorota; Fisher, Nickla A; Carr, Ian M; Shaw, Marie-Anne; Hopkins, Philip M; Pinyavat, Teeda; Rosenberg, Henry; Lang, Barbara H; Wong, Cynthia A; Riazi, Sheila; Brady, Joanne; Sun, Lena; Li, Guohua; Wolvetang, Timothy; Hofland, Jan; Takkenberg, Hanneke; Sterling, Carly; Rosenberg, Henry; Kraeva, Natalia; Riazi, Sheila

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

SIM1基因功能缺失突变会导致肥胖和类似普拉德-威利综合征的特征。

Bonnefond, Amélie; Raimondo, Anne; Stutzmann, Fanny; Ghoussaini, Maya; Ramachandrappa, Shwetha; Bersten, David C; Durand, Emmanuelle; Vatin, Vincent; Balkau, Beverley; Lantieri, Olivier; Raverdy, Violeta; Pattou, François; Van Hul, Wim; Van Gaal, Luc; Peet, Daniel J; Weill, Jacques; Miller, Jennifer L; Horber, Fritz; Goldstone, Anthony P; Driscoll, Daniel J; Bruning, John B; Meyre, David; Whitelaw, Murray L; Froguel, Philippe

Cellular pharmacology of a liposomal preparation of N4-hexadecyl-1-beta-D-arabinofuranosylcytosine, a lipophilic derivative of 1-beta-D-arabinofuranosylcytosine

N4-十六烷基-1-β-D-阿拉伯呋喃糖胞嘧啶(1-β-D-阿拉伯呋喃糖胞嘧啶的亲脂性衍生物)脂质体制剂的细胞药理学研究

Horber, D H; Schott, H; Schwendener, R A