Results
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201.
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dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice. [electronic resource] by
- 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
Producer: 20201221
In:
Molecular therapy : the journal of the American Society of Gene Therapy vol. 28
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202.
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Imaging pathological activities of human brain tissue in organotypic culture. [electronic resource] by
- Le Duigou, Caroline
- Savary, Etienne
- Morin-Brureau, Mélanie
- Gomez-Dominguez, Daniel
- Sobczyk, André
- Chali, Farah
- Milior, Giampaolo
- Kraus, Larissa
- Meier, Jochen C
- Kullmann, Dimitri M
- Mathon, Bertrand
- de la Prida, Liset Menendez
- Dorfmuller, Georg
- Pallud, Johan
- Eugène, Emmanuel
- Clemenceau, Stéphane
- Miles, Richard
Producer: 20190619
In:
Journal of neuroscience methods vol. 298
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203.
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Open letter to prime minister David Cameron and health secretary Andrew Lansley. [electronic resource] by
- Nicholl, David J
- Hilton-Jones, David
- Palace, Jacqueline
- Richmond, Sam
- Finlayson, Sarah
- Winer, John
- Weir, Andrew
- Maddison, Paul
- Fletcher, Nick
- Sussman, Jon
- Silver, Nick
- Nixon, John
- Kullmann, Dimitri
- Embleton, Nick
- Beeson, David
- Farrugia, Maria Elena
- Hill, Marguerite
- McDermott, Chris
- Llewelyn, Gareth
- Leonard, James
- Morris, Michael
Producer: 20101130
In:
BMJ (Clinical research ed.) vol. 341
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204.
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Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Na [electronic resource] by
- Myshkin, Mikhail Yu
- Männikkö, Roope
- Krumkacheva, Olesya A
- Kulbatskii, Dmitrii S
- Chugunov, Anton O
- Berkut, Antonina A
- Paramonov, Alexander S
- Shulepko, Mikhail A
- Fedin, Matvey V
- Hanna, Michael G
- Kullmann, Dimitri M
- Bagryanskaya, Elena G
- Arseniev, Alexander S
- Kirpichnikov, Mikhail P
- Lyukmanova, Ekaterina N
- Vassilevski, Alexander A
- Shenkarev, Zakhar O
Publication details: Frontiers in pharmacology 2019
In:
Frontiers in pharmacology vol. 10
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205.
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Spider toxin inhibits gating pore currents underlying periodic paralysis. [electronic resource] by
- Männikkö, Roope
- Shenkarev, Zakhar O
- Thor, Michael G
- Berkut, Antonina A
- Myshkin, Mikhail Yu
- Paramonov, Alexander S
- Kulbatskii, Dmitrii S
- Kuzmin, Dmitry A
- Sampedro Castañeda, Marisol
- King, Louise
- Wilson, Emma R
- Lyukmanova, Ekaterina N
- Kirpichnikov, Mikhail P
- Schorge, Stephanie
- Bosmans, Frank
- Hanna, Michael G
- Kullmann, Dimitri M
- Vassilevski, Alexander A
Producer: 20180813
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 115
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206.
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Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants. [electronic resource] by
- Codner, Gemma F
- Mianné, Joffrey
- Caulder, Adam
- Loeffler, Jorik
- Fell, Rachel
- King, Ruairidh
- Allan, Alasdair J
- Mackenzie, Matthew
- Pike, Fran J
- McCabe, Christopher V
- Christou, Skevoulla
- Joynson, Sam
- Hutchison, Marie
- Stewart, Michelle E
- Kumar, Saumya
- Simon, Michelle M
- Agius, Loranne
- Anstee, Quentin M
- Volynski, Kirill E
- Kullmann, Dimitri M
- Wells, Sara
- Teboul, Lydia
Producer: 20190513
In:
BMC biology vol. 16
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207.
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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. [electronic resource] by
- Gardiner, Alice R
- Bhatia, Kailash P
- Stamelou, Maria
- Dale, Russell C
- Kurian, Manju A
- Schneider, Susanne A
- Wali, G M
- Counihan, Tim
- Schapira, Anthony H
- Spacey, Sian D
- Valente, Enza-Maria
- Silveira-Moriyama, Laura
- Teive, Hélio A G
- Raskin, Salmo
- Sander, Josemir W
- Lees, Andrew
- Warner, Tom
- Kullmann, Dimitri M
- Wood, Nicholas W
- Hanna, Michael
- Houlden, Henry
Producer: 20130118
In:
Neurology vol. 79
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208.
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Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. [electronic resource] by
- Männikkö, Roope
- Wong, Leonie
- Tester, David J
- Thor, Michael G
- Sud, Richa
- Kullmann, Dimitri M
- Sweeney, Mary G
- Leu, Costin
- Sisodiya, Sanjay M
- FitzPatrick, David R
- Evans, Margaret J
- Jeffrey, Iona J M
- Tfelt-Hansen, Jacob
- Cohen, Marta C
- Fleming, Peter J
- Jaye, Amie
- Simpson, Michael A
- Ackerman, Michael J
- Hanna, Michael G
- Behr, Elijah R
- Matthews, Emma
Producer: 20181015
In:
Lancet (London, England) vol. 391
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209.
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Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS. [electronic resource] by
- Hall, Claire E
- Yao, Zhi
- Choi, Minee
- Tyzack, Giulia E
- Serio, Andrea
- Luisier, Raphaelle
- Harley, Jasmine
- Preza, Elisavet
- Arber, Charlie
- Crisp, Sarah J
- Watson, P Marc D
- Kullmann, Dimitri M
- Abramov, Andrey Y
- Wray, Selina
- Burley, Russell
- Loh, Samantha H Y
- Martins, L Miguel
- Stevens, Molly M
- Luscombe, Nicholas M
- Sibley, Christopher R
- Lakatos, Andras
- Ule, Jernej
- Gandhi, Sonia
- Patani, Rickie
Producer: 20180305
In:
Cell reports vol. 19
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210.
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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. [electronic resource] by
- Manole, Andreea
- Jaunmuktane, Zane
- Hargreaves, Iain
- Ludtmann, Marthe H R
- Salpietro, Vincenzo
- Bello, Oscar D
- Pope, Simon
- Pandraud, Amelie
- Horga, Alejandro
- Scalco, Renata S
- Li, Abi
- Ashokkumar, Balasubramaniem
- Lourenço, Charles M
- Heales, Simon
- Horvath, Rita
- Chinnery, Patrick F
- Toro, Camilo
- Singleton, Andrew B
- Jacques, Thomas S
- Abramov, Andrey Y
- Muntoni, Francesco
- Hanna, Michael G
- Reilly, Mary M
- Revesz, Tamas
- Kullmann, Dimitri M
- Jepson, James E C
- Houlden, Henry
Producer: 20171107
In:
Brain : a journal of neurology vol. 140
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211.
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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. [electronic resource] by
- Stödberg, Tommy
- McTague, Amy
- Ruiz, Arnaud J
- Hirata, Hiromi
- Zhen, Juan
- Long, Philip
- Farabella, Irene
- Meyer, Esther
- Kawahara, Atsuo
- Vassallo, Grace
- Stivaros, Stavros M
- Bjursell, Magnus K
- Stranneheim, Henrik
- Tigerschiöld, Stephanie
- Persson, Bengt
- Bangash, Iftikhar
- Das, Krishna
- Hughes, Deborah
- Lesko, Nicole
- Lundeberg, Joakim
- Scott, Rod C
- Poduri, Annapurna
- Scheffer, Ingrid E
- Smith, Holly
- Gissen, Paul
- Schorge, Stephanie
- Reith, Maarten E A
- Topf, Maya
- Kullmann, Dimitri M
- Harvey, Robert J
- Wedell, Anna
- Kurian, Manju A
Producer: 20160420
In:
Nature communications vol. 6
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212.
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Personalized translational epilepsy research - Novel approaches and future perspectives: Part II: Experimental and translational approaches. [electronic resource] by
- Bauer, Sebastian
- van Alphen, Natascha
- Becker, Albert
- Chiocchetti, Andreas
- Deichmann, Ralf
- Deller, Thomas
- Freiman, Thomas
- Freitag, Christine M
- Gehrig, Johannes
- Hermsen, Anke M
- Jedlicka, Peter
- Kell, Christian
- Klein, Karl Martin
- Knake, Susanne
- Kullmann, Dimitri M
- Liebner, Stefan
- Norwood, Braxton A
- Omigie, Diana
- Plate, Karlheinz
- Reif, Andreas
- Reif, Philipp S
- Reiss, Yvonne
- Roeper, Jochen
- Ronellenfitsch, Michael W
- Schorge, Stephanie
- Schratt, Gerhard
- Schwarzacher, Stephan W
- Steinbach, Joachim P
- Strzelczyk, Adam
- Triesch, Jochen
- Wagner, Marlies
- Walker, Matthew C
- von Wegner, Frederic
- Rosenow, Felix
Producer: 20180509
In:
Epilepsy & behavior : E&B vol. 76
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213.
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Personalized translational epilepsy research - Novel approaches and future perspectives: Part I: Clinical and network analysis approaches. [electronic resource] by
- Rosenow, Felix
- van Alphen, Natascha
- Becker, Albert
- Chiocchetti, Andreas
- Deichmann, Ralf
- Deller, Thomas
- Freiman, Thomas
- Freitag, Christine M
- Gehrig, Johannes
- Hermsen, Anke M
- Jedlicka, Peter
- Kell, Christian
- Klein, Karl Martin
- Knake, Susanne
- Kullmann, Dimitri M
- Liebner, Stefan
- Norwood, Braxton A
- Omigie, Diana
- Plate, Karlheinz
- Reif, Andreas
- Reif, Philipp S
- Reiss, Yvonne
- Roeper, Jochen
- Ronellenfitsch, Michael W
- Schorge, Stephanie
- Schratt, Gerhard
- Schwarzacher, Stephan W
- Steinbach, Joachim P
- Strzelczyk, Adam
- Triesch, Jochen
- Wagner, Marlies
- Walker, Matthew C
- von Wegner, Frederic
- Bauer, Sebastian
Producer: 20180509
In:
Epilepsy & behavior : E&B vol. 76
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214.
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. [electronic resource] by
- Salpietro, Vincenzo
- Malintan, Nancy T
- Llano-Rivas, Isabel
- Spaeth, Christine G
- Efthymiou, Stephanie
- Striano, Pasquale
- Vandrovcova, Jana
- Cutrupi, Maria C
- Chimenz, Roberto
- David, Emanuele
- Di Rosa, Gabriella
- Marce-Grau, Anna
- Raspall-Chaure, Miquel
- Martin-Hernandez, Elena
- Zara, Federico
- Minetti, Carlo
- Bello, Oscar D
- De Zorzi, Rita
- Fortuna, Sara
- Dauber, Andrew
- Alkhawaja, Mariam
- Sultan, Tipu
- Mankad, Kshitij
- Vitobello, Antonio
- Thomas, Quentin
- Mau-Them, Frederic Tran
- Faivre, Laurence
- Martinez-Azorin, Francisco
- Prada, Carlos E
- Macaya, Alfons
- Kullmann, Dimitri M
- Rothman, James E
- Krishnakumar, Shyam S
- Houlden, Henry
Producer: 20200203
In:
American journal of human genetics vol. 104
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215.
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. [electronic resource] by
- Salpietro, Vincenzo
- Dixon, Christine L
- Guo, Hui
- Bello, Oscar D
- Vandrovcova, Jana
- Efthymiou, Stephanie
- Maroofian, Reza
- Heimer, Gali
- Burglen, Lydie
- Valence, Stephanie
- Torti, Erin
- Hacke, Moritz
- Rankin, Julia
- Tariq, Huma
- Colin, Estelle
- Procaccio, Vincent
- Striano, Pasquale
- Mankad, Kshitij
- Lieb, Andreas
- Chen, Sharon
- Pisani, Laura
- Bettencourt, Conceicao
- Männikkö, Roope
- Manole, Andreea
- Brusco, Alfredo
- Grosso, Enrico
- Ferrero, Giovanni Battista
- Armstrong-Moron, Judith
- Gueden, Sophie
- Bar-Yosef, Omer
- Tzadok, Michal
- Monaghan, Kristin G
- Santiago-Sim, Teresa
- Person, Richard E
- Cho, Megan T
- Willaert, Rebecca
- Yoo, Yongjin
- Chae, Jong-Hee
- Quan, Yingting
- Wu, Huidan
- Wang, Tianyun
- Bernier, Raphael A
- Xia, Kun
- Blesson, Alyssa
- Jain, Mahim
- Motazacker, Mohammad M
- Jaeger, Bregje
- Schneider, Amy L
- Boysen, Katja
- Muir, Alison M
- Myers, Candace T
- Gavrilova, Ralitza H
- Gunderson, Lauren
- Schultz-Rogers, Laura
- Klee, Eric W
- Dyment, David
- Osmond, Matthew
- Parellada, Mara
- Llorente, Cloe
- Gonzalez-Peñas, Javier
- Carracedo, Angel
- Van Haeringen, Arie
- Ruivenkamp, Claudia
- Nava, Caroline
- Heron, Delphine
- Nardello, Rosaria
- Iacomino, Michele
- Minetti, Carlo
- Skabar, Aldo
- Fabretto, Antonella
- Raspall-Chaure, Miquel
- Chez, Michael
- Tsai, Anne
- Fassi, Emily
- Shinawi, Marwan
- Constantino, John N
- De Zorzi, Rita
- Fortuna, Sara
- Kok, Fernando
- Keren, Boris
- Bonneau, Dominique
- Choi, Murim
- Benzeev, Bruria
- Zara, Federico
- Mefford, Heather C
- Scheffer, Ingrid E
- Clayton-Smith, Jill
- Macaya, Alfons
- Rothman, James E
- Eichler, Evan E
- Kullmann, Dimitri M
- Houlden, Henry
Producer: 20191025
In:
Nature communications vol. 10
Availability: No items available.
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