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

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline

为患有(遗传性)智力障碍的青少年从儿童医疗保健过渡到成人医疗保健:ERN-ITHACA 指南

Klein Haneveld, Mirthe J; Świeczkowska, Katarzyna; Grybek, Tomasz; Labunets, Kinga; van Amelsvoort, Thérèse A M J; Bedeschi, Maria F; Behan, Claire; Dufke, Andreas; Dupont, Juliette; Gaasterland, Charlotte M W; Garavelli, Livia; Helverschou, Sissel B; McAnallen, Susan; Milska-Musa, Katarzyna A; van Staa, AnneLoes; Streață, Ioana; Stumpel, Connie T R M; Tamburrino, Federica; Vasseghi, Mary; Vyshka, Klea; Wierzba, Jolanta M; van Eeghen, Agnies M

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort

散发性成人起病退行性共济失调的遗传图谱:来自纵向多中心 SPORTAX 队列的 377 例连续患者的多模式遗传学研究

Beijer, Danique; Mengel, David; Önder, Demet; Wilke, Carlo; Traschütz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; van de Warrenburg, Bart P; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Rieß, Olaf; Schöls, Ludger; Haack, Tobias; Züchner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits

遗传性乳腺癌和卵巢癌患者的临床基因组测序:概念、实施和益处

Witt, Dennis; Sturm, Marc; Stäbler, Antje; Menden, Benita; Ruisinger, Lisa; Bosse, Kristin; Gruber, Ines; Hartkopf, Andreas; Gauß, Silja; Demidov, German; Casadei, Nicolas; Atienza, Elena Buena; Mehnert, Kira; Witt, Janna; Gross, Caspar; Schütz, Leon; Schroeder, Christopher; Ossowski, Stephan; Dufke, Andreas; Haack, Tobias B; Riess, Olaf; Faust, Ulrike

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats

长读长测序揭示弗里德赖希共济失调GAA重复序列中的嵌合序列变异

Park, Joohyun; Dufke, Claudia; Fleszar, Zofia; Schlotterbek, Michael; Buena-Atienza, Elena; Stühn, Lara G; Gross, Caspar; Sturm, Marc; Ossowski, Stephan; Schöls, Ludger; Riess, Olaf; Haack, Tobias B

Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey

罕见病和低发病率疾病中与妊娠相关的问题:ERN妊娠和计划生育横向工作组调查结果

Zucchi, Dina; Marinello, Diana; Tani, Chiara; Fulvio, Giovanni; Aguilera, Silvia; Benachi, Alexandra; Biller, Ruth; Blanco, Ignacio; Borgards, Petra; Boiteux, Marie-Claude; Brandi, Maria Luisa; Costafreda, Ester; Fonseca, Joao E; Fredi, Micaela; Iotova, Violeta; Louisse, Simone; Nalli, Cecilia; Onali, Michela; Power, Beverley; Rousset-Jablonski, Christine; Sturz, Dominique; Tincani, Angela; Vieira, Ana; Capela, Susana; Dan, Dorica; De Backer, Julie; de Die-Smulders, Christine; Dufke, Andreas; Artzner, Estelle Lecointe; Limongelli, Giuseppe; Lorenz, Birgit; Papenthin, Wiebke; Pascau, María Jesús; Raidt, Johanna; Ray-Coquard, Isabelle; Rimmer, Rachel; Röhl, Claas; Schneider, Holm; Yap, Tet; Talarico, Rosaria; Mosca, Marta

Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the "ERN transversal working group on pregnancy and family planning" survey

解决罕见病和低发病率疾病患者在孕期和计划生育方面未满足的需求:ERN 孕期和计划生育横向工作组调查结果

Fulvio, Giovanni; Marinello, Diana; Zucchi, Dina; Aguilera, Silvia; Benachi, Alexandra; Biller, Ruth; Blanco, Ignacio; Boiteux, Marie-Claude; Borgards, Petra; Brandi, Maria Luisa; Costafreda, Ester; Fonseca, João E; Fredi, Micaela; Guimarães, Vera; Iotova, Violeta; Lecointe-Artzner, Estelle; Lopes, Ana Rita; Louisse, Simone; Nalli, Cecilia; Olesinska, Marzena; Onali, Michela; Papenthin, Wiebke; Power, Beverley; Röhl, Claas; Rousset-Jablonski, Christine; Sturz, Dominique; Tincani, Angela; van Vleuten, Carine Jm der; Vieira, Ana; Dan, Dorica; Backer, Julie De; Smulders, Christina de Die; Dufke, Andreas; Frank, Charissa; Limongelli, Giuseppe; Lorenz, Birgit; Kilpiäinen, Elisa; Pascau, María Jesús; Raidt, Johanna; Ray-Coquard, Isabelle; Rimmer, Rachel; Schneider, Holm; Van Pal, Helena J der; Yap, Tet; Talarico, Rosaria; Tani, Chiara; Mosca, Marta

Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies

先天性印记疾病:病因、产前和围产期表现、诊断以及对受影响家庭和妊娠的护理

Eggermann, Thomas; Kagan, Karl Oliver; Dufke, Andreas

Genomes in clinical care

基因组学在临床护理中的应用

Riess, Olaf; Sturm, Marc; Menden, Benita; Liebmann, Alexandra; Demidov, German; Witt, Dennis; Casadei, Nicolas; Admard, Jakob; Schütz, Leon; Ossowski, Stephan; Taylor, Stacie; Schaffer, Sven; Schroeder, Christopher; Dufke, Andreas; Haack, Tobias