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

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

高胆固醇是显性和隐性ATAD3相关疾病的常见表型

Kiesel Ann-Sophie, Laugwitz Lucia, Buchert Rebecca, Grimmel Mona, Baumann Sarah, Sturm Marc, Reich Selina, Pauly Martje G, Brüggemann Norbert, Münchau Alexander, Oleksiuk Olga, Synofzik Matthis, Haack Tobias B, Peralta Susana

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions

异染性脑白质营养不良:新的治疗进展和新兴研究方向

Asbreuk, Marije A B C; Schoenmakers, Daphne H; Adang, Laura Ann; Beerepoot, Shanice; Bergner, Caroline; Bley, Annette; Boelens, Jaap Jan; Bugiani, Marianna; Calbi, Valeria; García-Cazorla, Àngeles; Eklund, Erik A; Fumagalli, Francesca; Grønborg, Sabine Weller; Groeschel, Samuel; Van Hasselt, Peter M; Hollak, Carla E M; Jones, Simon A; de Koning, Tom J; van Kuilenburg, André B P; Laugwitz, Lucia; Lindemans, Caroline; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Schöls, Ludger; Sevin, Caroline; Sinha, Jigyasha; Vaz, Frédéric M; Zerem, Ayelet; Wolf, Nicole I

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

EEFSEC 缺乏症:一种伴有早发性神经退行性变的硒病

Laugwitz, Lucia; Buchert, Rebecca; Olguín, Patricio; Estiar, Mehrdad A; Atanasova, Mihaela; Jr, Wilson Marques; Enssle, Jörg; Marsden, Brian; Avilés, Javiera; González-Gutiérrez, Andrés; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J; Diebold, Uta; Mueller, Amelie J; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uirá Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Krägeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S; Gan-Or, Ziv; Haack, Tobias B

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review

新生儿异染性脑白质营养不良筛查:系统性文献综述

Laugwitz, Lucia; Shenker, Andrew; Sluys, Erica F; Pintat, Stéphane; Whiteman, David; Chanson, Charlotte

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变异与异染性脑白质营养不良患者的认知衰退和运动功能长期保留相关

Beerepoot, Shanice; Schoenmakers, Daphne H; Fumagalli, Francesca; Groeschel, Samuel; Schöls, Ludger; Schiffmann, Raphael; Wong, Sheila; Boespflug-Tanguy, Odile; Sevin, Caroline; Nadjar, Yann; Bley, Annette; Mochel, Fanny; Horn, Morten A; Baldoli, Cristina; Locatelli, Sara; Hengel, Holger; Laugwitz, Lucia; Hollak, Carla E M; Gieselmann, Volkmar; van der Knaap, Marjo S; Wolf, Nicole I

Gene therapy in advanced metachromatic leukodystrophy: tempering expectations

晚期异染性脑白质营养不良的基因治疗:降低预期

Liu, Weiqian; Gao, Bo; Yuan, Ye; Xie, Shaowei; Jiao, Shengxian; Feng, Wenhui; Yan, Dongrui; Yin, Yu; Schoenmakers, Daphne H; Beerepoot, Shanice; Adang, Laura A; Asbreuk, Marije A B C; Bergner, Caroline G; Bley, Annette E; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; García Cazorla, Ángeles; Grønborg, Sabine W; Groeschel, Samuel; van Hasselt, Peter M; Hollak, Carla E M; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Sevin, Caroline; Schöls, Ludger; Zerem, Ayelet; Wolf, Nicole I; Fumagalli, Francesca

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

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

美国异染性脑白质营养不良症监测和管理共识指南

Adang, Laura A; Bonkowsky, Joshua L; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D; Schöls, Ludger; Sevin, Caroline; Srivastava, Isha N; Rajan, Deepa; Rubin, Jennifer P; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline

Neuroimaging in Primary Coenzyme-Q(10)-Deficiency Disorders

原发性辅酶Q(10)缺乏症的神经影像学研究

Münch, Juliane; Prasuhn, Jannik; Laugwitz, Lucia; Fung, Cheuk-Wing; Chung, Brian H-Y; Bellusci, Marcello; Mayatepek, Ertan; Klee, Dirk; Distelmaier, Felix