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

A novel alpha-synuclein K58N missense variant in a patient with Parkinson's disease

帕金森病患者出现新型 α-突触核蛋白 K58N 错义变异

Mohammed Al-Azzani, Sandrina Weber, Nagendran Ramalingam, Maria Ramón, Liana Shvachiy, Gonçalo Mestre, Michael Zech, Kevin Sicking, Alain Ibáñez de Opakua, Vidyashree Jayanthi, Leslie Amaral, Aishwarya Agarwal, Aswathy Chandran, Susana R Chaves, Juliane Winkelmann, Claudia Trenkwalder, Maike Schwage

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

LRRC7 变异会导致智力障碍、自闭症、攻击性和异常饮食行为

Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia; Undiagnosed Diseases Network; Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smo

Variants in ATP5F1B are associated with dominantly inherited dystonia

ATP5F1B 变异与显性遗传性肌张力障碍有关

Alessia Nasca, Niccolò E Mencacci, Federica Invernizzi, Michael Zech, Ignacio J Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabe I Bustos, Luigi M Romito, Dimitri Krainc, Juliane Winkelmann, Miryam Carecchio, Nardo Nardocci, Giovanna Zorzi, Holger Prokisch, Steven J Lubbe, Barbara Garava

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

婴儿帕金森病-肌张力障碍中的 DRD1 功能丧失变异

Kimberley M Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Genomics England Research Consortium, Biju Hameed, Michael Zech, Niccolo E Mencacci, Katy Barwick, Maya Topf, Manju A Kurian

Summer paleohydrology during the Late Glacial and Early Holocene based on δ2H and δ18O from Bichlersee, Bavaria

基于巴伐利亚州比希勒尔塞的晚冰期和早全新世夏季古水文学(基于 δ2H 和 δ18O)

Maximilian Prochnow, Paul Strobel, Marcel Bliedtner, Julian Struck, Lucas Bittner, Sönke Szidat, Gary Salazar, Heike Schneider, Sudip Acharya, Michael Zech, Roland Zech

Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation

胶原蛋白 VI 通过大麻素调节运动回路可塑性和运动性能

Daniel D Lam, Rhîannan H Williams, Ernesto Lujan, Koji Tanabe, Georg Huber, Nay Lui Saw, Juliane Merl-Pham, Aaro V Salminen, David Lohse, Sally Spendiff, Melanie J Plastini, Michael Zech, Hanns Lochmüller, Arie Geerlof, Stefanie M Hauck, Mehrdad Shamloo, Marius Wernig, Juliane Winkelmann3

Central Mongolian lake sediments reveal new insights on climate change and equestrian empires in the Eastern Steppes

蒙古中部湖泊沉积物揭示了东部草原气候变化和马术帝国的新见解

Struck, Julian; Bliedtner, Marcel; Strobel, Paul; Taylor, William; Biskop, Sophie; Plessen, Birgit; Klaes, Björn; Bittner, Lucas; Jamsranjav, Bayarsaikhan; Salazar, Gary; Szidat, Sönke; Brenning, Alexander; Bazarradnaa, Enkhtuya; Glaser, Bruno; Zech, Michael; Zech, Roland

Using Daily Stretching to Counteract Performance Decreases as a Result of Reduced Physical Activity-A Controlled Trial

利用日常拉伸运动抵消因体力活动减少导致的运动能力下降——一项对照试验

Warneke, Konstantin; Konrad, Andreas; Keiner, Michael; Zech, Astrid; Nakamura, Masatoshi; Hillebrecht, Martin; Behm, David G

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

致病性SPTBN1变异会导致常染色体显性遗传性神经发育综合征。

Margot A Cousin # ,Blake A Creighton # ,Keith A Breau ,Rebecca C Spillmann ,Erin Torti ,Sruthi Dontu ,Swarnendu Tripathi ,Deepa Ajit ,Reginald J Edwards ,Simone Afriyie ,Julia C Bay ,Kathryn M Harper ,Alvaro A Beltran ,Lorena J Munoz ,Liset Falcon Rodriguez ,Michael C Stankewich ,Richard E Person ,Yue Si ,Elizabeth A Normand ,Amy Blevins ,Alison S May ,Louise Bier ,Vimla Aggarwal ,Grazia M S Mancini ,Marjon A van Slegtenhorst ,Kirsten Cremer ,Jessica Becker ,Hartmut Engels ,Stefan Aretz ,Jennifer J MacKenzie ,Eva Brilstra ,Koen L I van Gassen ,Richard H van Jaarsveld ,Renske Oegema ,Gretchen M Parsons ,Paul Mark ,Ingo Helbig ,Sarah E McKeown ,Robert Stratton ,Benjamin Cogne ,Bertrand Isidor ,Pilar Cacheiro ,Damian Smedley ,Helen V Firth ,Tatjana Bierhals ,Katja Kloth ,Deike Weiss ,Cecilia Fairley ,Joseph T Shieh ,Amy Kritzer ,Parul Jayakar ,Evangeline Kurtz-Nelson ,Raphael A Bernier ,Tianyun Wang ,Evan E Eichler ,Ingrid M B H van de Laar ,Allyn McConkie-Rosell ,Marie T McDonald ,Jennifer Kemppainen ,Brendan C Lanpher ,Laura E Schultz-Rogers ,Lauren B Gunderson ,Pavel N Pichurin ,Grace Yoon ,Michael Zech ,Robert Jech ,Juliane Winkelmann ,Michael T Zimmermann ,Brenda Temple ,Sheryl S Moy ,Eric W Klee ,Queenie K-G Tan ,Damaris N Lorenzo

MATR3 haploinsufficiency and early-onset neurodegeneration

MATR3 单倍体不足和早发性神经退行性疾病

Michael Zech, Annette Seibt, Barbara Zumbaum, Dirk Klee, Thomas Meitinger, Juliane Winkelmann, Ertan Mayatepek, Matias Wagner, Felix Distelmaier