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

CACNB3 defects are associated with infantile idiopathic nystagmus

CACNB3 缺陷与婴儿特发性眼球震颤有关

Jüschke, Christoph; Linsel, Kira; Owczarek-Lipska, Marta; Brandt, Nicola; Zunken, Sarah; Altmüller, Janine; Preising, Markus N; Kastrati, Dennis; Thiele, Holger; Thomas, Mervyn G; Nürnberg, Peter; Lorenz, Birgit; Kellner, Ulrich; Bräuer, Anja U; Korenke, G Christoph; Gottlob, Irene; Neidhardt, John

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

A human-specific RPGR isoform and a clinically approved Rho/ROCK inhibitor ameliorate defects associated with RPGR dysfunction

人源特异性RPGR亚型和临床批准的Rho/ROCK抑制剂可改善与RPGR功能障碍相关的缺陷。

Usman, Muhammad; Atigbire, Paul; Kastrati, Dennis; Brinkhoff, Julia Milena; Kluth, Charlotte Luise; Marticke, Jannis; Jüschke, Christoph; Neidhardt, John

Molecular treatment options for patients carrying KIAA0586/TALPID3 variants.

针对携带 KIAA0586/TALPID3 变异的患者的分子治疗方案

Taudien Jacqueline E, Swirski Sebastian, Möller Maike, Jüschke Christoph, Owczarek-Lipska Marta, Korenke G Christoph, Neidhardt John

External Validation and Extension of a Cochlear Implant Performance Prediction Model: Analysis of the Oldenburg Cohort

人工耳蜗性能预测模型的外部验证与扩展:奥尔登堡队列分析

Ollermann, Rieke; Böscke, Robert; Neidhardt, John; Radeloff, Andreas

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

SPATA5L1基因的双等位基因变异会导致智力障碍、痉挛性肌张力障碍性脑瘫、癫痫和听力丧失。

Richard, Elodie M; Bakhtiari, Somayeh; Marsh, Ashley P L; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M; Guida, Brandon S; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y; Webster, Richard I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementina; Mancini, Cecilia; Claps Sepulveda, Dianela Judith; McWalter, Kirsty; Begtrup, Amber; Crunk, Amy; Guillen Sacoto, Maria J; Person, Richard; Schnur, Rhonda E; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K; Marks, Warren A; van Eyk, Clare L; Webber, Dani L; Corbett, Mark A; Harper, Kelly; Berry, Jesia G; MacLennan, Alastair H; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M; Hufnagel, Robert B; Fahey, Michael C; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M; Rad, Aboulfazl; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

利用高通量测序技术鉴定与视网膜营养不良相关的突变

Song, Fei; Owczarek-Lipska, Marta; Ahmels, Tim; Book, Marius; Aisenbrey, Sabine; Menghini, Moreno; Barthelmes, Daniel; Schrader, Stefan; Spital, Georg; Neidhardt, John

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

由RPGR基因突变引起的X连锁视网膜色素变性患者的疾病严重程度谱

Di Iorio, Valentina; Karali, Marianthi; Melillo, Paolo; Testa, Francesco; Brunetti-Pierri, Raffaella; Musacchia, Francesco; Condroyer, Christel; Neidhardt, John; Audo, Isabelle; Zeitz, Christina; Banfi, Sandro; Simonelli, Francesca

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy

一名患有智力障碍综合征和癫痫的患者体内发现BCL11A基因的新型从头移码突变

Korenke, Georg Christoph; Schulte, Björn; Biskup, Saskia; Neidhardt, John; Owczarek-Lipska, Marta

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation

结合工程化U1 snRNA和反义寡核苷酸改善BBS1剪接位点突变的治疗

Breuel, Saskia; Vorm, Mariann; Bräuer, Anja U; Owczarek-Lipska, Marta; Neidhardt, John