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C

Christian T. Thiel

universitätsklinikum erlangen
H指数:40
被引数:6,341

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R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy

R405W型中间丝蛋白敲入小鼠凸显了肌原纤维肌病中线粒体、蛋白质质量控制及肌原纤维的改变。

Journal of Cachexia, Sarcopenia and Muscle
IF0
2025-10-300
OAAI
Sabrina Batonnet-Pichon; Florence Delort; Alain Lilienbaum; Carolin Berwanger; Dorothea Schultheis; Ursula Schlötzer-Schrehardt; Andreas Schmidt; Steffen Uebe; Yosra Baiche; Tom J. Eisenack; Débora Broch Trentini; Markus Mallek; Leonid Mill; Ana Ferreiro; Bettina Eberhard; Thomas Lücke; Markus Krüger; Christian Thiel; Rolf Schröder; Christoph S. Clemen
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2024-10-012
OAAI
Carpentieri, Giovanna; Cecchetti, Serena; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Leoni, Chiara; Onesimo, Roberta; Calligari, Paolo; Pietrantoni, Agostina; Ciolfi, Andrea; Ferilli, Marco; Calderan, Cristina; Cappuccio, Gerarda; Martinelli, Simone; Messina, Elena; Caputo, Viviana; Hueffmeier, Ulrike; Mignot, Cyril; Auvin, Stephane; Capri, Yline; Lourenco, Charles Marques; Russell, Bianca E.; Neustad, Ahna; Pierri, Nicola Brunetti; Keren, Boris; Reis, Andre; Cohen, Julie S.; Heidlebaugh, Alexis; Smith, Clay; Thiel, Christian T.; Salviati, Leonardo; Zampino, Giuseppe; Campeau, Philippe M.; Stella, Lorenzo; Tartaglia, Marco; Flex, Elisabetta
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

由单等位基因HK1变体引起的神经发育障碍的临床，神经影像学和代谢足迹

NEUROLOGY-GENETICS
IF3.7
2024-04-013
OAAI
Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; 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.
Making sense of missense variants in TTN-related congenital myopathies

了解TTN相关先天性肌病的错义变异

ACTA NEUROPATHOLOGICA
IF9.3
2021-01-1532
OAAI
Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joel; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schroeder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A.; Wilichowski, Ekkehard; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Dominguez-Gonzalez, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-09-0173
OAAI
Haskamp, Stefan; Bruns, Heiko; Hahn, Madelaine; Hoffmann, Markus; Gregor, Anne; Loehr, Sabine; Hahn, Jonas; Schauer, Christine; Ringer, Mark; Flamann, Cindy; Frey, Benjamin; Lesner, Adam; Thiel, Christian T.; Ekici, Arif B.; von Hoersten, Stephan; Assmann, Gunter; Riepe, Claudia; Euler, Maximilien; Schaekel, Knut; Philipp, Sandra; Prinz, Joerg C.; Moessner, Rotraut; Kersting, Florina; Sticherling, Michael; Sefiani, Abdelaziz; Lyahyai, Jaber; Sondermann, Wiebke; Oji, Vinzenz; Schulz, Peter; Wilsmann-Theis, Dagmar; Sticht, Heinrich; Schett, Georg; Reis, Andre; Uebe, Steffen; Frey, Silke; Hueffmeier, Ulrike
Rare Loss -of -Function Mutation in SERPINA3 in Generalized Pustular Psoriasis
JOURNAL OF INVESTIGATIVE DERMATOLOGY
IF5.7
2020-07-0162
OAAI
Frey, Silke; Sticht, Heinrich; Wilsmann-Theis, Dagmar; Gerschuetz, Anne; Wolf, Katharina; Loehr, Sabine; Haskamp, Stefan; Frey, Benjamin; Hahn, Madelaine; Ekici, Arif B.; Uebe, Steffen; Thiel, Christian; Reis, Andre; Burkhardt, Harald; Behrens, Frank; Koehm, Michaela; Rech, Juergen; Schett, Georg; Assmann, Gunter; Kingo, Kulli; Koks, Sulev; Moessner, Rotraut; Prinz, Joerg C.; Oji, Vinzenz; Schulz, Peter; Munoz, Luis E.; Kremer, Andreas E.; Wenzel, Joerg; Hueffmeier, Ulrike
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
GENETICS IN MEDICINE
IF6.2
2020-03-0130
OAAI
Mirzaa, Ghayda M.; Chong, Jessica X.; Piton, Amelie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A.; Sajan, Samin A.; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Thiel, Christian T.; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S.; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Genevieve, David; Simon, Marleen E. H.; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E.; Akman, Cigdem I.; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W.; Mattioli, Francesca; Guyader, Gwenael Le; Gerard, Benedicte; Mathieu-Dramard, Michele; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G.; Nickerson, Deborah A.; van Binsbergen, Ellen; Enns, Gregory M.; Dries, Annika M.; Rowe, Leah J.; Tsai, Anne C. H.; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H.; Martinez-Agosto, Julian; Ockeloen, Charlotte W.; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A.; Eichler, Evan E.; Vincent, John B.; Bamshad, Michael J.
PEDIA: prioritization of exome data by image analysis

PEDIA: 通过图像分析对外显子组数据进行优先排序

GENETICS IN MEDICINE
IF6.2
2019-12-0144
OAAI
Hsieh, Tzung-Chien; Mensah, Martin A.; Pantel, Jean T.; Aguilar, Dione; Bar, Omri; Bayat, Allan; Becerra-Solano, Luis; Bentzen, Heidi B.; Biskup, Saskia; Borisov, Oleg; Braaten, Oivind; Ciaccio, Claudia; Coutelier, Marie; Cremer, Kirsten; Danyel, Magdalena; Daschkey, Svenja; Eden, Hilda David; Devriendt, Koenraad; Wilson, Sandra; Douzgou, Sofia; Dukic, Dejan; Ehmke, Nadja; Fauth, Christine; Fischer-Zirnsak, Bjoern; Fleischer, Nicole; Gabriel, Heinz; Graul-Neumann, Luitgard; Gripp, Karen W.; Gurovich, Yaron; Gusina, Asya; Haddad, Nechama; Hajjir, Nurulhuda; Hanani, Yair; Hertzberg, Jakob; Hoertnagel, Konstanze; Howell, Janelle; Ivanovski, Ivan; Kaindl, Angela; Kamphans, Tom; Kamphausen, Susanne; Karimov, Catherine; Kathom, Hadil; Keryan, Anna; Knaus, Alexej; Koehler, Sebastian; Kornak, Uwe; Lavrov, Alexander; Leitheiser, Maximilian; Lyon, Gholson J.; Mangold, Elisabeth; Marin Reina, Purificacion; Martinez Carrascal, Antonio; Mitter, Diana; Morlan Herrador, Laura; Nadav, Guy; Noethen, Markus; Orrico, Alfredo; Ott, Claus-Eric; Park, Kristen; Peterlin, Borut; Poeisler, Laura; Raas-Rothschild, Annick; Randolph, Linda; Revencu, Nicole; Fagerberg, Christina Ringmann; Robinson, Peter Nick; Rosnev, Stanislav; Rudnik, Sabine; Rudolf, Gorazd; Schatz, Ulrich; Schossig, Anna; Schubach, Max; Shanoon, Or; Sheridan, Eamonn; Smirin-Yosef, Pola; Spielmann, Malte; Suk, Eun-Kyung; Sznajer, Yves; Thiel, Christian T.; Thiel, Gundula; Verloes, Alain; Vrecar, Irena; Wahl, Dagmar; Weber, Ingrid; Winter, Korina; Wisniewska, Marzena; Wollnik, Bernd; Yeung, Ming W.; Zhao, Max; Zhu, Na; Zschocke, Johannes; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
PLOS GENETICS
IF3.7
2019-04-2946
OAAI
Tiosano, Dov; Baris, Hagit N.; Chen, Anlu; Hitzert, Marrit M.; Schueler, Markus; Gulluni, Federico; Wiesener, Antje; Bergua, Antonio; Mory, Adi; Copeland, Brett; Gleeson, Joseph G.; Rump, Patrick; van Meer, Hester; Sival, Deborah A.; Haucke, Volker; Kriwinsky, Josh; Knaup, Karl X.; Reis, Andre; Hauer, Nadine N.; Hirsch, Emilio; Roepman, Ronald; Pfundt, Rolph; Thiel, Christian T.; Wiesener, Michael S.; Aslanyan, Mariam G.; Buchner, David A.
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

人类身高的进化保守网络可识别身材矮小的多种孟德尔原因

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2019-02-2614
OAAI
Hauer, Nadine N.; Popp, Bernt; Taher, Leila; Vogl, Carina; Dhandapany, Perundurai S.; Buettner, Christian; Uebe, Steffen; Sticht, Heinrich; Ferrazzi, Fulvia; Ekici, Arif B.; De Luca, Alessandro; Klinger, Patrizia; Kraus, Cornelia; Zweier, Christiane; Wiesener, Antje; Abou Jamra, Rami; Kunstmann, Erdmute; Rauch, Anita; Wieczorek, Dagmar; Jung, Anna-Marie; Rohrer, Tilman R.; Zenker, Martin; Doerr, Helmuth-Guenther; Reis, Andre; Thiel, Christian T.
TRIM28 haploinsufficiency predisposes to Wilms tumor
INTERNATIONAL JOURNAL OF CANCER
IF4.7
2019-02-1446
OAAI
Diets, Illja J.; Hoyer, Juliane; Ekici, Arif B.; Popp, Bernt; Hoogerbrugge, Nicotine; van Reijmersdal, Simon, V; Bhaskaran, Rajith; Hadjihannas, Michel; Vasileiou, Georgia; Thiel, Christian T.; Seven, Didem; Uebe, Steffen; Ilencikova, Denisa; Waanders, Esme; Mavinkurve-Groothuis, Annelies M. C.; Roeleveld, Nel; de Krijger, Ronald R.; Wegert, Jenny; Graf, Norbert; Vokuhl, Christian; Agaimy, Abbas; Gessler, Manfred; Reis, Andre; Kuiper, Roland P.; Jongmans, Marjolijn C. J.; Metzler, Markus
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
GENETICS IN MEDICINE
IF6.2
2018-06-01107
OAAI
Hauer, Nadine N.; Popp, Bernt; Schoeller, Eva; Schuhmann, Sarah; Heath, Karen E.; Hisado-Oliva, Alfonso; Klinger, Patricia; Kraus, Cornelia; Trautmann, Udo; Zenker, Martin; Zweier, Christiane; Wiesener, Antje; Abou Jamra, Rami; Kunstmann, Erdmute; Wieczorek, Dagmar; Uebe, Steffen; Ferrazzi, Fulvia; Buettner, Christian; Ekici, Arif B.; Rauch, Anita; Sticht, Heinrich; Doerr, Helmuth-Guenther; Reis, Andre; Thiel, Christian T.

研究方向

暂未获取到该数据
A
André Reis
H 指数:95论文数:1,028被引数:3.7万
A
Arif B. Ekici
H 指数:91论文数:640被引数:3.4万
S
Steffen Uebe
H 指数:39论文数:151被引数:6,736
A
Anita Rauch
H 指数:0论文数:1被引数:50
H
Heinrich Sticht
H 指数:69论文数:462被引数:1.5万
M
Martin Zenker
H 指数:74论文数:755被引数:1.9万
B
Bernt Popp
H 指数:30论文数:158被引数:3,273
C
Christiane Zweier
H 指数:59论文数:245被引数:1.2万
C
Cornelia Kraus
H 指数:39论文数:135被引数:4,841
J
Juliane Hoyer
H 指数:33论文数:68被引数:5,790