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

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

RALGAPA1 中的双等位基因变异会导致严重的神经发育障碍、肌肉张力减退、婴儿痉挛和喂养异常

Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, Cynthia M Powell, Bader Alhaddad, Annette Seibt, Ortal Barel, Gali Heimer, Chen Hoffmann, Laurie A Demmer, Yezmin Perilla-Young, Marc Remke, Dagmar Wieczorek, Tharsini Navaratnarajah, Peter Lichtner, Dirk Klee, Hanan E Shamseldin, Fuad Al Mutairi

Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease

RHOT1 突变会破坏内质网-线粒体接触位点,干扰帕金森病中的钙稳态和线粒体动力学

Dajana Grossmann, Clara Berenguer-Escuder, Marie Estelle Bellet, David Scheibner, Jill Bohler, Francois Massart, Doron Rapaport, Alexander Skupin, Aymeric Fouquier d'Hérouël, Manu Sharma, Jenny Ghelfi, Aleksandar Raković, Peter Lichtner, Paul Antony, Enrico Glaab, Patrick May, Kai Stefan Dimmer, Jul

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

MPZL2 编码上皮连接蛋白髓鞘蛋白零样 2,对人类和小鼠的听觉至关重要

Mieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, Adelaida M Celaya, Anne Oonk, Margit Schraders, Jaap Oostrik, Elena Gomez-Rosas, Andy J Beynon, Bas P Hartel, Kees Okkersen, Hans J P M Koenen, Jack Weeda, Stefan Lelieveld, Nicol C Voermans, Irma Joosten, Carel B Hoyng, Peter Lichtner, Henricus P M

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency

CHCHD10 突变 p.R15L 和 p.G66V 通过单倍体不足引起运动神经元疾病

Sarah J Brockmann, Axel Freischmidt, Patrick Oeckl, Kathrin Müller, Srinivas K Ponna, Anika M Helferich, Christoph Paone, Jörg Reinders, Kerstin Kojer, Michael Orth, Manu Jokela, Mari Auranen, Bjarne Udd, Andreas Hermann, Karin M Danzer, Peter Lichtner, Paul Walther, Albert C Ludolph, Peter M Anders

Genetic diagnosis of Mendelian disorders via RNA sequencing

通过 RNA 测序进行孟德尔遗传病诊断

Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donat

Length Polymorphisms in Heme Oxygenase-1 and AKI after Cardiac Surgery

血红素加氧酶-1 的长度多态性与心脏手术后 AKI

David E Leaf, Simon C Body, Jochen D Muehlschlegel, Gearoid M McMahon, Peter Lichtner, Charles D Collard, Stanton K Shernan, Amanda A Fox, Sushrut S Waikar

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia

α3(VI)胶原基因 COL6A3 的隐性突变导致早发性孤立性肌张力障碍

Michael Zech, Daniel D Lam, Ludmila Francescatto, Barbara Schormair, Aaro V Salminen, Angela Jochim, Thomas Wieland, Peter Lichtner, Annette Peters, Christian Gieger, Hanns Lochmüller, Tim M Strom, Bernhard Haslinger, Nicholas Katsanis, Juliane Winkelmann

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

靶向重测序和系统性体内功能测试发现 MEIS1 中的罕见变异是导致不安腿综合征的重要因素

Eva C Schulte, Maria Kousi, Perciliz L Tan, Erik Tilch, Franziska Knauf, Peter Lichtner, Claudia Trenkwalder, Birgit Högl, Birgit Frauscher, Klaus Berger, Ingo Fietze, Magdolna Hornyak, Wolfgang H Oertel, Cornelius G Bachmann, Alexander Zimprich, Annette Peters, Christian Gieger, Thomas Meitinger, B

Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury

蛋白酶激活受体-4基因区域的多态性与血小板活化和围手术期心肌损伤的关系

Jochen D Muehlschlegel, Tjörvi E Perry, Kuang-Yu Liu, Amanda A Fox, Shane A Smith, Peter Lichtner, Charles D Collard, Stanton K Shernan, John H Hartwig, Simon C Body, Karin M Hoffmeister

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer

AAGAB 中的无义突变导致 Buschke-Fischer-Brauer 型点状掌跖角化病

Kathrin A Giehl, Gertrud N Eckstein, Sandra M Pasternack, Silke Praetzel-Wunder, Thomas Ruzicka, Peter Lichtner, Kerstin Seidl, Mike Rogers, Elisabeth Graf, Lutz Langbein, Markus Braun-Falco, Regina C Betz, Tim M Strom