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Stéphanie Schorge

University College London
H指数:39
被引数:4,852
浏览量:0

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Deciphering temporal gene expression dynamics during epilepsy development using a rat model of focal neocortical epilepsy

使用局灶性新皮质癫痫的大鼠模型破译癫痫发展过程中的时间基因表达动态

EPILEPSIA
IF6.6
2024-11-110
OA
Chang, Bao-Luen; Walker, Matthew C.; Kullmann, Dimitri M.; Schorge, Stephanie
Anti-seizure gene therapy for focal cortical dysplasia

局灶性皮质发育不良的抗惊厥基因治疗

BRAIN
IF11.7
2023-12-1510
OAAI
Barbanoj, Amanda Almacellas; Graham, Robert T.; Maffei, Benito; Carpenter, Jenna C.; Leite, Marco; Hoke, Justin; Hardjo, Felisia; Scott-Solache, James; Chimonides, Christos; Schorge, Stephanie; Kullmann, Dimitri M.; Magloire, Vincent; Lignani, Gabriele
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
BRAIN
IF11.7
2022-08-2911
OAAI
Brunger, Tobias; Perez-Palma, Eduardo; Montanucci, Ludovica; Nothnagel, Michael; Moller, Rikke S.; Schorge, Stephanie; Zuberi, Sameer; Symonds, Joseph; Lemke, Johannes R.; Brunklaus, Andreas; Traynelis, Stephen F.; May, Patrick; Lal, Dennis
Gene variant effects across sodium channelopathies predict function and guide precision therapy
BRAIN
IF11.7
2022-01-1750
OAAI
Brunklaus, Andreas; Feng, Tony; Brunger, Tobias; Perez-Palma, Eduardo; Heyne, Henrike; Matthews, Emma; Semsarian, Christopher; Symonds, Joseph D.; Zuberi, Sameer M.; Lal, Dennis; Schorge, Stephanie
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia

将遗传和功能数据转化为临床实践: 一系列223个肌强直家族

BRAIN
IF11.7
2021-09-1613
OAAI
Suetterlin, Karen; Matthews, Emma; Sud, Richa; McCall, Samuel; Fialho, Doreen; Burge, James; Jayaseelan, Dipa; Haworth, Andrea; Sweeney, Mary G.; Kullmann, Dimitri M.; Schorge, Stephanie; Hanna, Michael G.; Mannikko, Roope
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism
SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2021-05-1922
OA
Ng, Joanne; Barral, Serena; Barrigon, Carmen De la Fuente; Lignani, Gabriele; Erdem, Fatma A.; Wallings, Rebecca; Privolizzi, Riccardo; Rossignoli, Giada; Alrashidi, Haya; Heasman, Sonja; Meyer, Esther; Ngoh, Adeline; Pope, Simon; Karda, Rajvinder; Perocheau, Dany; Baruteau, Julien; Suff, Natalie; Diaz, Juan Antinao; Schorge, Stephanie; Vowles, Jane; Marshall, Lucy R.; Cowley, Sally A.; Sucic, Sonja; Freissmuth, Michael; Counsell, John R.; Wade-Martins, Richard; Heales, Simon J. R.; Rahim, Ahad A.; Bencze, Maximilien; Waddington, Simon N.; Kurian, Manju A.
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy
EPILEPSIA
IF6.6
2021-03-1811
OAAI
Carpenter, Jenna C.; Mannikko, Roope; Heffner, Catherine; Heneine, Jana; Sampedro-Castaneda, Marisol; Lignani, Gabriele; Schorge, Stephanie
A systems approach delivers a functional microRNA catalog and expanded targets for seizure suppression in temporal lobe epilepsy
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2020-06-2445
OAAI
Veno, Morten T.; Reschke, Cristina R.; Morris, Gareth; Connolly, Niamh M. C.; Su, Junyi; Yan, Yan; Engel, Tobias; Jimenez-Mateos, Eva M.; Harder, Lea M.; Pultz, Dennis; Haunsberger, Stefan J.; Pal, Ajay; Heller, Janosch P.; Campbell, Aoife; Langa, Elena; Brennan, Gary P.; Conboy, Karen; Richardson, Amy; Norwood, Braxton A.; Costard, Lara S.; Neubert, Valentin; Del Gallo, Federico; Salvetti, Beatrice; Vangoor, Vamshidhar R.; Sanz-Rodriguez, Amaya; Muilu, Juha; Fabene, Paolo F.; Pasterkamp, R. Jeroen; Prehn, Jochen H. M.; Schorge, Stephanie; Andersen, Jens S.; Rosenow, Felix; Bauer, Sebastian; Kjems, Jorgen; Henshall, David C.
In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent mode of epilepsy
BRAIN
IF11.7
2020-03-0491
OAAI
Colasante, Gaia; Qiu, Yichen; Massimino, Luca; Di Berardino, Claudia; Cornford, Jonathan H.; Snowball, Albert; Weston, Mikail; Jones, Steffan P.; Giannelli, Serena; Lieb, Andreas; Schorge, Stephanie; Kullmann, Dimitri M.; Broccoli, Vania; Lignani, Gabriele
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
EPILEPSIA
IF6.6
2020-02-2367
OAAI
Brunklaus, Andreas; Du, Juanjiangmeng; Steckler, Felix; Ghanty, Ismael I.; Johannesen, Katrine M.; Fenger, Christina Duhring; Schorge, Stephanie; Baez-Nieto, David; Wang, Hao-Ran; Allen, Andrew; Pan, Jen Q.; Lerche, Holger; Heyne, Henrike; Symonds, Joseph D.; Zuberi, Sameer M.; Sanders, Stephan; Sheidley, Beth R.; Craiu, Dana; Olson, Heather E.; Weckhuysen, Sarah; DeJonge, Peter; Helbig, Ingo; Van Esch, Hilde; Busa, Tiffany; Milh, Matthieu; Isidor, Bertrand; Depienne, Christel; Poduri, Annapurna; Campbell, Arthur J.; Dimidschstein, Jordane; Moller, Rikke S.; Lal, Dennis
dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice

dCas9-Based Scn1a基因激活可恢复抑制性中间神经元兴奋性并减轻Dravet综合征小鼠的癫痫发作

MOLECULAR THERAPY
IF12
2020-01-01148
OAAI
Colasante, Gaia; Lignani, Gabriele; Brusco, Simone; Di Berardino, Claudia; Carpenter, Jenna; Giannelli, Serena; Valassina, Nicholas; Bido, Simone; Ricci, Raffaele; Castoldi, Valerio; Marenna, Silvia; Church, Timothy; Massimino, Luca; Morabito, Giuseppe; Benfenati, Fabio; Schorge, Stephanie; Leocani, Letizia; Kullmann, Dimitri M.; Broccoli, Vania
Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome
CELL REPORTS
IF6.9
2020-01-0128
OAAI
Chang, Pishan; Bush, Daniel; Schorge, Stephanie; Good, Mark; Canonica, Tara; Shing, Nathanael; Noy, Suzanna; Wiseman, Frances K.; Burgess, Neil; Tybulewicz, Victor L. J.; Walker, Matthew C.; Fisher, Elizabeth M. C.
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization
HUMAN MUTATION
IF3.7
2019-11-2845
OAAI
Brunklaus, Andreas; Schorge, Stephanie; Smith, Alexander D.; Ghanty, Ismael; Stewart, Kirsty; Gardiner, Sarah; Du, Juanjiangmeng; Perez-Palma, Eduardo; Symonds, Joseph D.; Collier, Abby C.; Lal, Dennis; Zuberi, Sameer M.
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation
SCIENTIFIC REPORTS
IF3.9
2019-11-2614
OAAI
Thor, Michael G.; Vivekanandam, Vinojini; Sampedro-Castaneda, Marisol; Tan, S. Veronica; Suetterlin, Karen; Sud, Richa; Durran, Siobhan; Schorge, Stephanie; Kullmann, Dimitri M.; Hanna, Michael G.; Matthews, Emma; Mannikko, Roope
Olanzapine: A potent agonist at the hM4D(Gi) DREADD amenable to clinical translation of chemogenetics

奥氮平: hM4D(Gi) 可怕的有效激动剂，可用于化学遗传学的临床翻译

SCIENCE ADVANCES
IF12.5
2019-04-0547
OAAI
Weston, Mikail; Kaserer, Teresa; Wu, Angela; Mouravlev, Alexandre; Carpenter, Jenna C.; Snowball, Albert; Knauss, Samuel; von Schimmelmann, Melanie; During, Matthew J.; Lignani, Gabriele; Schorge, Stephanie; Young, Deborah; Kullmann, Dimitri M.; Lieb, Andreas
Biochemical autoregulatory gene therapy for focal epilepsy

局灶性癫痫的生化自身调节基因治疗

NATURE MEDICINE
IF50
2018-07-0948
OAAI
Lieb, Andreas; Qiu, Yichen; Dixon, Christine L.; Heller, Janosch P.; Walker, Matthew C.; Schorge, Stephanie; Kullmann, Dimitri M.
Spared CA1 pyramidal neuron function and hippocampal performance following antisense knockdown of microRNA-134
EPILEPSIA
IF6.6
2018-07-0515
OAAI
Morris, Gareth; Brennan, Gary P.; Reschke, Cristina R.; Henshall, David C.; Schorge, Stephanie
Spider toxin inhibits gating pore currents underlying periodic paralysis

蜘蛛毒素抑制周期性瘫痪的门控孔电流

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2018-04-1025
OAAI
Mannikko, Roope; Shenkarev, Zakhar O.; Thor, Michael G.; Berkut, Antonina A.; Myshkin, Mikhail Yu; Paramonov, Alexander S.; Kulbatskii, Dmitrii S.; Kuzmin, Dmitry A.; Castaneda, Marisol Sampedro; King, Louise; Wilson, Emma R.; Lyukmanova, Ekaterina N.; Kirpichnikov, Mikhail P.; Schorge, Stephanie; Bosmans, Frank; Hanna, Michael G.; Kullmann, Dimitri M.; Vassilevski, Alexander A.
Semiology, clustering, periodicity and natural history of seizures in an experimental occipital cortical epilepsy model

实验性枕叶皮质癫痫模型的符号学，聚类，周期性和癫痫发作的自然史

DISEASE MODELS & MECHANISMS
IF3.3
2018-01-0112
OAAI
Chang, Bao-Luen; Leite, Marco; Snowball, Albert; Lieb, Andreas; Chabrol, Elodie; Walker, Matthew C.; Kullmann, Dimitri M.; Schorge, Stephanie; Wykes, Robert C.
Potent Anti-seizure Effects of Locked Nucleic Acid Antagomirs Targeting miR-134 in Multiple Mouse and Rat Models of Epilepsy
MOLECULAR THERAPY-NUCLEIC ACIDS
IF0
2017-03-0165
OAAI
Reschke, Cristina R.; Silva, Luiz F. Almeida; Norwood, Braxton A.; Senthilkumar, Ketharini; Morris, Gareth; Sanz-Rodriguez, Amaya; Conroy, Ronan M.; Costard, Lara; Neubert, Valentin; Bauer, Sebastian; Farrell, Michael A.; O'Brien, Donncha F.; Delanty, Norman; Schorge, Stephanie; Pasterkamp, R. Jeroen; Rosenow, Felix; Henshall, David C.

研究方向

暂未获取到该数据
D
Dimitri M. Kullmann
H 指数:82论文数:505被引数:2.0万
M
Michael G. Hanna
H 指数:95论文数:1,628被引数:4.2万
M
Matthew C. Walker
H 指数:89论文数:624被引数:2.4万
S
Sanjeev Rajakulendran
H 指数:20论文数:79被引数:1,982
R
Richa Sud
H 指数:20论文数:86被引数:1,337
G
Gabriele Lignani
H 指数:26论文数:96被引数:2,637
E
Emma Matthews
H 指数:34论文数:217被引数:5,247
S
Sameer M. Zuberi
H 指数:71论文数:252被引数:2.7万
M
Mary B. Davis
H 指数:48论文数:160被引数:7,028
R
Robyn Labrum
H 指数:26论文数:90被引数:2,915