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

Pediatric high-grade gliomas in patients with neurofibromatosis type 1-A collaborative cohort study from the SIOPE HGG/DIPG working group

神经纤维瘤病 1 型患者的儿科高级别胶质瘤——来自 SIOPE HGG/DIPG 工作组的一项合作队列研究

Karremann, Michael; Gerdes, Tabea; Gielen, Gerrit H; Kwiecien, Robert; Perwein, Thomas; Hoffmann, Marion; Azizi, Amedeo A; Babor, Florian; Barrios-Bussmann, Carla; Behrens, Lars; Benesch, Martin; Bertero, Luca; Biassoni, Veronica; Bison, Brigitte; Buttarelli, Francesca R; Calaminus, Gabriele; Claviez, Alexander; Distelmaier, Felix; Ebinger, Martin; Elayadi, Moatasem; Ernst, Jana; Eyrich, Matthias; Fleischhack, Gudrun; Friedrich, Carsten; Friker, Lea L; Garre, Maria Luisa; Gerber, Nicolas U; Gojo, Johannes; Hargrave, Darren; Häuser, Svenja; Hernaiz-Driever, Pablo; Holm, Stefan; Jakob, Marcus; Knirsch, Stephanie; Kratz, Christian; Krischer, Jeanne Marie; Kühnöl, Caspar; Kumirova, Ella; Massimino, Maura; Vinci, Maria; Meijer, Lisethe; Metzler, Markus; Milanaccio, Claudia; La Madrid, Andres Morales; Morana, Giovanni; Nussbaumer, Gunther; Piccolo, Gianluca; Pollo, Bianca; Reifenberger, Guido; Reimann, Christian; Rosenbaum, Thorsten; Schiavello, Elisabetta; Sterba, Jaroslav; Sturm, Dominik; Szychot, Elwira; Valentini, Chiara; Vallero, Stefano Gabriele; Velleuer-Carlberg, Eunike; van Buiren, Miriam; Mastronuzzi, Angela; van Vuurden, Dannis; von Bueren, André O; Wiese, Maria; Zinke, Claudia; Zlocha, Jozef; Pietsch, Torsten; Kramm, Christof M

Effects of the 2019 guideline update on lipid-lowering therapy in patients with acute coronary syndromes

2019年指南更新对急性冠脉综合征患者降脂治疗的影响

Galli, Lukas; Bernhard, Johannes; Schrutka, Lore; Haider, Patrick; Distelmaier, Klaus; Hengstenberg, Christian; Krychtiuk, Konstantin A; Speidl, Walter S

Plasma versus serum: which is better for proteomic blood biomarker analysis? Evaluation of the novel NULISA platform

血浆与血清:哪种更适合蛋白质组学血液生物标志物分析?新型NULISA平台的评估

Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger; Song, Yeunjoo E; Wang, Ping; Laux, Renee A; Fuzzell, Sarada L; Hochstetler, Sherri D; Miskimen, Kristy L; Lynn, Audrey; Wang, Weihuan; Liu, Yining; Moore, Noel C; Gulyayev, Alex V; Dorfsman, Daniel A; Caywood, Laura J; Clouse, Jason E; Herington, Sharlene D; Prough, Michael B; Slifer, Susan H; Adams, Larry D; Whitehead, Patrice G; Vance, Jeffery M; Cuccaro, Michael L; Ogrocki, Paula K; Lerner, Alan J; Pericak‐Vance, Margaret; Scott, William K; Bush, William S; Haines, Jonathan L; Griswold, Anthony J; Akinyemi, Rufus O; Rajabli, Farid; Ayele, Biniyam A; Coker, Motunrayo; Scott, Kyle M; Akinwande, Kazeem; Adams, Larry D; Diala, Samuel; Whitehead, Patrice G; McCauley, Jacob L; Ogunronbi, Mayowa; Hamilton‐Nelson, Kara L; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; NJAMNSHI, Alfred Kongnyu; Caban‐Holt, Allison M; Ndetei, David; Sarfo, Fred Stephen; Akinyemi, Joshua O; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; Gugssa, Seid Ali; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Walker, Richard; Mena, Pedro R; Okubadejo, Njideka U; Martinez, Izri M; Kunkle, Brian W; Paddick, Stella‐Maria; Kalaria, Raj; Ogunniyi, Adesola; Vance, Jeffery M; Reitz, Christiane; Seshadri, Sudha; Guerchet, Maëlenn; Tosto, Giuseppe; Williams, Scott M; Bush, William S; Haines, Jonathan L; Byrd, Goldie S; Pericak‐Vance, Margaret; Farinas, Marissa F; Chen, Yijun; Zeng, Xuemei; Nafash, Michel N; Gogola, Alexandra; Kofler, Julia K; Tudorascu, Dana L; Shaaban, C Elizabeth; Lingler, Jennifer H; Pascoal, Tharick A; Klunk, William E; Villemagne, Victor L; Berman, Sarah B; Sweet, Robert; Kamboh, M Ilyas; Ikonomovic, Milos D; Snitz, Beth E; Cohen, Ann D; Lopez, Oscar L; Karikari, Thomas K

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors.

酮体和谷氨酰胺联合补充可恢复 AGC1 缺乏的神经元祖细胞的有氧能量产生。

Barile Simona Nicole, Magnifico Maria Chiara, Poeta Eleonora, Distelmaier Felix, Viggiano Luigi, Balboni Nicola, Protti Michele, Petralla Sabrina, Pignataro Antonella, Volpe Giacomo, De Luise Monica, Bonora Massimo, Antonicelli Marica, Babini Giorgia, Massenzio Francesca, Porcelli Vito, Lama Eleonora, Arrigoni Roberto, Pisano Isabella, Addabbo Veronica, Campana Anna, Begnozzi Francesca, Anderson Stewart A, Fiermonte Giuseppe, Giorgi Federico Manuel, Pinton Paolo, Palmieri Ferdinando, Gasparre Giuseppe, Mercolini Laura, Palmieri Luigi, Wallace Douglas C, Hentschel Julia, Monti Barbara, Lasorsa Francesco Massimo

[Recurrent hemolysis and iron overload of unclear origin]

【反复溶血和不明原因的铁过载】

Distelmaier, Laura; Gebhard, Christian; Holzäpfel, Antje; von Bergwelt-Baildon, Michael; Theurich, Sebastian; Cario, Holger; Spiekermann, Karsten

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

ZSCAN10 缺陷会导致一种神经发育障碍,其特征是耳面部畸形。

Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sébastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B

mtDNA analysis using Mitopore

使用 Mitopore 进行线粒体DNA分析

Jochen Dobner, Thach Nguyen, Mario Gustavo Pavez-Giani, Lukas Cyganek, Felix Distelmaier, Jean Krutmann, Alessandro Prigione, Andrea Rossi