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

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1

周围神经病变扩展了戊二酸尿症1型的神经系统表型。

Preisner, Fabian; Garbade, Sven F; Harting, Inga; Wortmann, Saskia B; Mühlhausen, Chris; Heiland, Sabine; Bendszus, Martin; Kölker, Stefan; Boy, Nikolas

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease

扩展POLRMT相关线粒体疾病的遗传和表型谱

Fassad, Mahmoud R; Valenzuela, Sebastian; Oláhová, Monika; Collier, Jack J; Knowles, Charlotte V Y; Mavraki, Eleni; Elbracht, Miriam; Güzel, Nergis; Herberhold, Thomas; Kurth, Ingo; Maier, Andrea; Mattern, Larissa; Saunders, Carol; McCullagh, Helen; Õunap, Katrin; Wortmann, Saskia B; Reis, Andre; Zhang, Lei; Gustafsson, Claes M; McFarland, Robert; Taylor, Robert W

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

PRMT9基因双等位基因功能缺失变异会导致一种综合征型智力障碍。

Kröll-Hermi, Ariane; Stoetzel, Corinne; Etard, Christelle; Halabelian, Levon; Schaefer, Elise; Scheidecker, Sophie; Kahrizi, Kimia; Payman, Jamali; Geoffroy, Véronique; Prasad, Megana; Obringer, Cathy; Ruch, Laurie; Girard, Amandine; Zeng, Hong; Li, Fengling; Plassard, Damien; Keime, Céline; Mattioli, Francesca; Feger, Claire; Piton, Amélie; Fujita, Atsushi; Matsumoto, Naomichi; Castro, Matheus Augusto Araujo; Ae, Kim Chong; Ruaud, Lyse; Levy, Jonathan; Dozières, Blandine; Tabet, Anne-Claude; Wentzensen, Ingrid M; Santiago-Sim, Teresa; Yusupov, Roman; Tveten, Kristian; Smeland, Marie Falkenberg; Alkhunaizi, Ebba; Cowing, Gina; Li, Chumei; Wortmann, Saskia B; Feichtinger, René G; Mayr, Johannes A; Gonorazky, Herman; Jing, Gan; Wang, Xiaodong; Wang, Jia; Bierhals, Tatjana; Grinstein, Lev; Herget, Theresia; Ruiz, Anna; Gabau, Elisabeth; Kampmeier, Antje; Kassel, Olivier; Kuechler, Alma; Platzer, Konrad; Jamra, Rami Abou; Woerner, Audrey; Idleburg, Michaela; Kircher, Susanne Gerit; Laccone, Franco; Golob, Barbara; Peterlin, Borut; Čuturilo, Goran; Tasic, Velibor; Kolvenbach, Caroline M; Hildebrandt, Friedhelm; Ramos, Luiza L P; Kok, Fernando; Buck, Cecilia Barbosa; van de Laar, Ingrid M B H; de Man, Stella A; Taşdelen, Elifcan; Sezer, Abdullah; Büke, Afife; Yavuz, Zehra; Çomoğlu, Selim Selçuk; Costin, Carrie; Tran Mau Them, Frédéric; Lacaze, Elodie; Courtin, Thomas; Héron, Delphine; Keren, Boris; Whalen, Sandra; Roume, Joelle; Yang, Yanzhong; Hoffer, Mariëtte J V; van Haeringen, Arie; Najmabadi, Hossein; Arrowsmith, Cheryl H; Strähle, Uwe; Dollfus, Hélène; Muller, Jean

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3基因功能缺失变异导致综合征性神经发育障碍

Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B; Madden, Jill A; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N; Klee, Eric W; Grand, Katheryn; Sanchez-Lara, Pedro A; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun

Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

欧盟国家原发性线粒体疾病的现状管理:欧洲参考网络调查

Mancuso, Michelangelo; Lopriore, Piervito; Lamperti, Costanza; Klopstock, Thomas; Rahman, Shamima; Licchetta, Laura; Kornblum, Cornelia; Wortmann, Saskia B; Dollfus, Hélène; Papadopoulou, Maria T; Arzimanoglou, Alexis; Scarpa, Maurizio; Graessner, Holm; Evangelista, Teresinha

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

德国一家新生儿筛查中心32年来通过新生儿筛查发现的马来酰乙酰乙酸异构酶缺乏症新病例及自然病程:经验总结

Gramer, Gwendolyn; Wortmann, Saskia B; Fang-Hoffmann, Junmin; Kohlmüller, Dirk; Okun, Jürgen G; Prokisch, Holger; Meitinger, Thomas; Hoffmann, Georg F

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear

通过新生儿筛查检测细胞内维生素B12活性降低的益处尚不明确

Knöpfli, Stella; Goeschl, Bernadette; Zeyda, Maximilian; Baghdasaryan, Anna; Baumgartner-Kaut, Margot; Baumgartner, Matthias R; Herle, Marion; Margreitter, Julian; Poms, Martin; Wortmann, Saskia B; Konstantopoulou, Vassiliki; Huemer, Martina

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Plexin B2 (PLXNB2) 基因的双等位基因变异会导致牙釉质发育不全、听力丧失和智力障碍。

Smith, Claire E L; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L; Poulter, James A; Wortmann, Saskia B; Feichtinger, Rene G; Mayr, Johannes A; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C; Watson, Christopher M; Mansour, Sahar; Inglehearn, Chris F; Mighell, Alan J; Bloch-Zupan, Agnès

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

由HK1单等位基因变异引起的神经发育障碍的临床、神经影像学和代谢特征

Wortmann, Saskia B; Feichtinger, Rene G; Abela, Lucia; van Gemert, Loes A; Aubart, Mélodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stühn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Mühlhausen, Chris; Rio, Marlène; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B; Syrbe, Steffen; Zylicz, Stas A; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A; Wevers, Ron A; Boltshauser, Eugen; Willemsen, Michel A