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Steffen Syrbe

Heidelberg University Hospital and Faculty of Medicine
H指数:36
被引数:5,336

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KCNA2 ‐Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment

<scp> <i>KCNA2</i> </scp> 相关遗传性痉挛性截瘫痷：临床特征及靶向治疗依据

Movement Disorders
IF7.6
2026-10-070
PRE
Christian M. Boßelmann; Martin Vyhnalek; Zuzana Blichova; Ludmila Novotna; Anna Uhrova Meszarosova; Petra Havránková; Elena Kuster; Robert J. Lauerer; Ulrike B.S. Hedrich; Hang Lyu; Mayke Oosterloo; Michael Alber; Ludger Schöls; Karen Müller‐Schlüter; Almut Turid Bischoff; Thomas Klopstock; Georgios Koutsis; Georgia Karadima; Stephanie Efthymiou; Henry Houlden; Ainara Salazar‐Villacorta; Colin A. Ellis; Anna Scheper; Dieter Gläser; Tobias B. Haack; Matias Wagner; Michael Zech; Konrad Platzer; Pasquale Striano; Steffen Syrbe; Rebecca Schüle; Holger Lerche
Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders

KCNQ2障碍中早期钠通道阻滞剂治疗与更优预后相关

Brain
IF11.7
2026-08-180
OAAI
Charissa Millevert; Megan Hairabedian; Samuel Dahan; Johannes Lemke; Steffen Syrbe; Eugenia Roza; Raluca Ioana Teleanu; Laura Licchetta; Duccio M Cordelli; Francesca Bisulli; Trine B Hammer; Magdalena Krygier; Marta Pietruszka; Maria Mazurkiewicz-Bełdzińska; Safa Mete Dagdas; Pinar Gencpinar; Carmen Fons; Dídac Casas-Alba; Edward C Cooper; Maurizio Taglialatela; Béatrice Desnous; Nathalie Villeneuve; Anne Lépine; Stéphane Auvin; Cyril Mignot; Dorothée Ville; Anne de Saint Martin; Claire Bar; Caroline Hachon le Camus; Laurent Villard; Laurence Chaton; Patrick Van Bogaert; Jérémie Lefranc; Gaëtan Lesca; Silvia Napuri; Mathieu Kuchenbuch; Caroline Perriard; Blandine Dozieres; Bénédicte Héron; Annie Ting-Gee Chiu; Ingrid E Scheffer; KCNQ2 study group; Mathieu Milh; Sarah Weckhuysen; null
Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正：GRIN2A功能缺失变体会增加早发性精神分裂症及其他精神障碍的风险，并可能实现精准治疗

Molecular Psychiatry
IF10.1
2026-01-070
OAAI
Johannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A功能丧失性变异会增加早发性精神分裂症及其他精神疾病的风险，并可能实现精准治疗。

Molecular Psychiatry
IF10.1
2025-10-140
OA
Johannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry

家族性和散发性SCN8A自限性婴儿癫痫的差异性结局：来自一个大宗国际登记研究的见解

Epilepsia
IF6.6
2025-08-180
PRE
Francesca Furia; Sopio Gverdtsiteli; Wibke Janzarik; Christian Korff; Gaetan Lesca; Maria Margherita Mancardi; Martino Montomoli; Marina Nikanorova; Romina Romaniello; Guido Rubboli; Steffen Syrbe; Federico Vigevano; Rikke S. Møller; Elena Gardella
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因中的新发变异与严重的神经发育障碍和先天性畸形相关。

GENETICS IN MEDICINE
IF6.2
2025-01-011
PRE
Weisz-Hubshman, Monika; Burrage, Lindsay C.; V. Jangam, Sharayu; Rosenfeld, Jill A.; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K.; Hernan, Rebecca R.; Lim, Foong Y.; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R.; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K.; Wangler, Michael F.; Bacino, Carlos; Lee, Brendan
Vitamin B12 Deficiency Newborn Screening
PEDIATRICS
IF6.4
2024-07-231
PRE
Muetze, Ulrike; Gleich, Florian; Haas, Dorothea; Urschitz, Michael S.; Roeschinger, Wulf; Janzen, Nils; Hoffmann, Georg F.; Garbade, Sven F.; Syrbe, Steffen; Koelker, Stefan
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
EPILEPSIA
IF6.6
2024-07-021
PRE
Cuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
GENETICS IN MEDICINE
IF6.2
2024-05-011
OAAI
Tessarech, Marine; Friocourt, Gaelle; Marguet, Florent; Lecointre, Maryline; Le Mao, Morgane; Diaz, Rodrigo Munoz; Mignot, Cyril; Keren, Boris; Heron, Benedicte; De Bie, Charlotte; Van Gassen, Koen; Loisel, Didier; Delorme, Benoit; Syrbe, Steffen; Klabunde-Cherwon, Annick; Abou Jamra, Rami; Wegler, Meret; Callewaert, Bert; Dheedene, Annelies; Zidane-Marinnes, Merzouka; Guichet, Agnes; Bris, Celine; Van Bogaert, Patrick; Biquard, Florence; Lenaers, Guy; Marcorelles, Pascale; Ferec, Claude; Gonzalez, Bruno; Procaccio, Vincent; Vitobello, Antonio; Bonneau, Dominique; Laquerriere, Annie; Khiati, Salim; Colin, Estelle
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.
Early life seizures and epileptic spasms in STXBP1-related disorders

STXBP1-related疾病的早期癫痫发作和癫痫痉挛

EPILEPSIA
IF6.6
2024-01-273
PRE
Thalwitzer, Kim M.; Xian, Julie; de Campo, Danielle; Parthasarathy, Shridhar; Magielski, Jan; Sullivan, Katie R.; Goss, James; Rigby, Charlene Son; Boland, Michael; Prosser, Ben; Ruggiero, Sarah M.; Syrbe, Steffen; Helbig, Ingo
Delineating clinical and developmental outcomes in STXBP1-related disorders

描述STXBP1-related疾病的临床和发育结果

BRAIN
IF11.7
2023-11-285
OAAI
Xian, Julie; Thalwitzer, Kim Marie; Mckee, Jillian; Sullivan, Katie Rose; Brimble, Elise; Fitch, Eryn; Toib, Jonathan; Kaufman, Michael C.; Decampo, Danielle; Cunningham, Kristin; Pierce, Samuel R.; Goss, James; Rigby, Charlene Son; Syrbe, Steffen; Boland, Michael; Prosser, Benjamin; Fitter, Nasha; Ruggiero, Sarah M.; Helbig, Ingo
Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany
EPILEPSIA
IF6.6
2023-11-107
OAAI
Maltseva, Margarita; Rosenow, Felix; Schubert-Bast, Susanne; Flege, Silke; Wolff, Markus; von Spiczak, Sarah; Trollmann, Regina; Syrbe, Steffen; Ruf, Susanne; Polster, Tilman; Neubauer, Bernd A.; Mayer, Thomas; Jacobs, Julia; Kurlemann, Gerhard; Kluger, Gerhard; Klotz, Kerstin A.; Kieslich, Matthias; Kay, Lara; Hornemann, Frauke; Bettendorf, Ulrich; Bertsche, Astrid; Bast, Thomas; Strzelczyk, Adam
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
NEUROLOGY
IF8.5
2023-08-293
OA
Thalwitzer, Kim M.; Driedger, Jan H.; Xian, Julie; Saffari, Afshin; Zacher, Pia; Boelsterli, Bigna K.; Ruggiero, Sarah McKeown; Sullivan, Katie Rose; Datta, Alexandre N.; Kellinghaus, Christoph; Althaus, Juergen; Wiemer-Kruel, Adelheid; van Baalen, Andreas; Pampel, Armin; Alber, Michael; Braakman, Hilde M. H.; Debus, Otfried M.; Denecke, Jonas; Hobbiebrunken, Elke; Breitweg, Ina; Diehl, Danielle; Eitel, Hans; Gburek-Augustat, Janina; Preisel, Martin; Schlump, Jan-Ulrich; Laufs, Mirjam; Mammadova, Dilbar; Wurst, Carsten; Prager, Christine; Loehr-Nilles, Christa; Martin, Peter; Garbade, Sven F.; Platzer, Konrad; Benkel-Herrenbrueck, Ira; Egler, Kerstin; Fazeli, Walid; Lemke, Johannes R.; Runkel, Eva; Klein, Barbara; Linden, Tobias; Schroeter, Julian; Steffeck, Heike; Thies, Bastian; von Deimling, Florian; Illsinger, Sabine; Borggraefe, Ingo; Classen, Georg; Wieczorek, Dagmar; Ramantani, Georgia; Koelker, Stefan; Hoffmann, Georg F.; Ries, Markus; Helbig, Ingo; Syrbe, Steffen
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

ANK2功能丧失变体与癫痫相关，并导致hiPSC衍生的神经元网络中轴突初始节段可塑性受损和过度活跃的网络活动

HUMAN MOLECULAR GENETICS
IF3.2
2023-05-178
OAAI
Teunissen, Maria W. A.; Lewerissa, Elly; van Hugte, Eline J. H.; Wang, Shan; Ockeloen, Charlotte W.; Koolen, David A.; Pfundt, Rolph; Marcelis, Carlo L. M.; Brilstra, Eva; Howe, Jennifer L.; Scherer, Stephen W.; Le Guillou, Xavier; Bilan, Frederic; Primiano, Michelle; Roohi, Jasmin; Piton, Amelie; de Saint Martin, Anne; Baer, Sarah; Seiffert, Simone; Platzer, Konrad; Jamra, Rami Abou; Syrbe, Steffen; Doering, Jan H.; Lakhani, Shenela; Nangia, Srishti; Gilissen, Christian; Vermeulen, R. Jeroen; Rouhl, Rob P. W.; Brunner, Han G.; Willemsen, Marjolein H.; Kasri, Nael Nadif
Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-04-2914
OAAI
Maltseva, Margarita; Schubert-Bast, Susanne; Zoellner, Johann Philipp; Bast, Thomas; Mayer, Thomas; von Spiczak, Sarah; Ruf, Susanne; Trollmann, Regina; Wolff, Markus; Hornemann, Frauke; Klotz, Kerstin A.; Jacobs, Julia; Kurlemann, Gerhard; Neubauer, Bernd A.; Polster, Tilman; Syrbe, Steffen; Bertsche, Astrid; Bettendorf, Ulrich; Kluger, Gerhard; Flege, Silke; Rosenow, Felix; Kay, Lara; Strzelczyk, Adam

研究方向

暂未获取到该数据
R
Rikke S. Møller
H 指数:78论文数:406被引数:2.1万
J
Johannes R. Lemke
H 指数:60论文数:300被引数:1.2万
G
Georg F. Hoffmann
H 指数:101论文数:1,118被引数:3.8万
S
Sarah Weckhuysen
H 指数:70论文数:250被引数:1.4万
A
Andreas Merkenschlager
H 指数:33论文数:272被引数:3,777
T
Thomas Bast
H 指数:54论文数:305被引数:1.0万
I
Ingo Helbig
H 指数:73论文数:387被引数:1.9万
A
Astrid Bertsche
H 指数:25论文数:145被引数:1,908
G
Gaëtan Lesca
H 指数:67论文数:447被引数:1.4万
G
Gerhard Kluger
H 指数:48论文数:297被引数:9,362