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

A bioinorganic view on the potential chemical space of hydroxyphenylpyruvate dioxygenase-like (HPDL) enzymes

从生物无机化学角度看羟苯丙酮酸双加氧酶样(HPDL)酶的潜在化学空间

Lindlar, Niko S W; Stucka, Rolf; Gutenthaler-Tietze, Sophie M; Gutenthaler-Tietze, Jonathan; Senderek, Jan; Daumann, Lena J

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis

新的错义 G376V-TDP-43 变体会诱发晚发型远端肌病,但不会诱发肌萎缩侧索硬化症

Julia Zibold, Lola E R Lessard, Flavien Picard, Lara Gruijs da Silva, Yelyzaveta Zadorozhna, Nathalie Streichenberger, Edwige Belotti, Alexis Osseni, Andréa Emerit, Elisabeth Errazuriz-Cerda, Laurence Michel-Calemard, Rita Menassa, Laurent Coudert, Manuela Wiessner, Rolf Stucka, Thomas Klopstock, Fr

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy

HNRNPA1 新生变异与儿童早期发病、快速进展性全身性肌病相关

Roos, Andreas; Häusler, Martin; Kollipara, Laxmikanth; Topf, Ana; Preusse, Corinna; Stucka, Rolf; Nolte, Kay; Strom, Tim; Berutti, Riccardo; Jiang, Xuehui; Koll, Randi; Lochmüller, Hanns; Schacht, Sabine Maria; Zahedi, René P; Weis, Joachim; Senderek, Jan

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

先天性痛觉缺失和遗传性感觉及自主神经病变的遗传图谱

Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sánchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques, Wilson Junior; Mercier, Sandra; Procaccio, Vincent; Bris, Céline; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J; Müller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgül, Behiye S; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Jörg B; Wood, John N; Cox, James J; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C; Shy, Michael; Bennett, David L; Baets, Jonathan; Hübner, Christian A; Leipold, Enrico; Züchner, Stephan; Elbracht, Miriam; Çakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C Geoffrey; Reilly, Mary M; Kurth, Ingo

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

HPDL基因的双等位基因变异会导致纯粹型和复杂性遗传性痉挛性截瘫。

Manuela Wiessner,Reza Maroofian,Meng-Yuan Ni,Andrea Pedroni,Juliane S Müller,Rolf Stucka,Christian Beetz,Stephanie Efthymiou,Filippo M Santorelli,Ahmed A Alfares,Changlian Zhu,Isabella Ceccherini,Michele Iacomino,Federico Zara,Vincenzo Salpietro,Marcello Scala,Marta Rusmini,Yiran Xu,Yinghong Wang,Yasuhiro Suzuki,Kishin Koh,Haitian Nan,Hiroyuki Ishiura,Shoji Tsuji,Laëtitia Lambert,Emmanuelle Schmitt,Elodie Lacaze,Hanna Küpper,David Dredge,Cara Skraban,Amy Goldstein,Mary J H Willis,Katheryn Grand,John M Graham,Richard A Lewis,Francisca Millan,Özgür Duman,Nihal Dündar,Gökhan Uyanik,Ludger Schöls,Peter Nürnberg,Gudrun Nürnberg,Andrea Catala Bordes,Pavel Seeman,Martin Kuchar,Hossein Darvish,Adriana Rebelo,Filipa Bouçanova,Jean-Jacques Medard,Roman Chrast,Michaela Auer-Grumbach,Fowzan S Alkuraya,Hanan Shamseldin,Saeed Al Tala,Jamileh Rezazadeh Varaghchi,Maryam Najafi,Selina Deschner,Dieter Gläser,Wolfgang Hüttel,Michael C Kruer,Erik-Jan Kamsteeg,Yoshihisa Takiyama,Stephan Züchner,Jonathan Baets,Rebecca Schüle,Rita Horvath,Henry Houlden,Luca Bartesaghi,Hwei-Jen Lee,Konstantinos Ampatzis,Tyler Mark Pierson,Jan Senderek

Factors Impacting Efficacy of AAV-Mediated CRISPR-Based Genome Editing for Treatment of Choroidal Neovascularization

影响 AAV 介导的基于 CRISPR 的基因组编辑治疗脉络膜新生血管疗效的因素

Sook Hyun Chung, Iris Natalie Mollhoff, Uyen Nguyen, Amy Nguyen, Natalie Stucka, Eric Tieu, Suman Manna, Ratheesh Kumar Meleppat, Pengfei Zhang, Emerald Lovece Nguyen, Jared Fong, Robert Zawadzki, Glenn Yiu

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

PRDM12 是神经发生过程中启动痛觉神经元谱系所必需的

Luca Bartesaghi, Yiqiao Wang, Paula Fontanet, Simone Wanderoy, Finja Berger, Haohao Wu, Natalia Akkuratova, Filipa Bouçanova, Jean-Jacques Médard, Charles Petitpré, Mark A Landy, Ming-Dong Zhang, Philip Harrer, Claudia Stendel, Rolf Stucka, Marina Dusl, Maria Eleni Kastriti, Laura Croci, Helen C Lai

Targeted HIV-1 Latency Reversal Using CRISPR/Cas9-Derived Transcriptional Activator Systems

使用 CRISPR/Cas9 衍生的转录激活系统逆转 HIV-1 潜伏期

Julia K Bialek, Gábor A Dunay, Maike Voges, Carola Schäfer, Michael Spohn, Rolf Stucka, Joachim Hauber, Ulrike C Lange

Transcriptional regulator PRDM12 is essential for human pain perception

转录调节因子 PRDM12 对人类疼痛感知至关重要

Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, Manuela Zitzelsberger, Andreas C Themistocleous, Tim M Strom, Chrysanthi Samara, Adrian W Moore, Lily Ting-Yin Cho, Gareth T Young, Caecilia Weiss, Maria Schabhüttl, Rolf Stucka, Annina B Schmid, Yesim Parman, Luitgard Graul-Neumann, Wolfram He

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

3'-UTR 突变在先天性肌无力综合征患者的 GFPT1 基因中产生 microRNA 靶位

Marina Dusl, Jan Senderek, Juliane S Müller, Johannes G Vogel, Anja Pertl, Rolf Stucka, Hanns Lochmüller, Robert David, Angela Abicht