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Reply: Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. e41, doi. 10.1093/brain/awae009
By:
- Montanucci, Ludovica;
- Brünger, Tobias;
- Lal, Dennis
Publication type:
Article
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5198, doi. 10.1093/brain/awad292
By:
- Stefanski, Arthur;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Montanucci, Ludovica;
- Gati, Cornelius;
- Klöckner, Chiara;
- Johannesen, Katrine M;
- Goodspeed, Kimberly;
- Macnee, Marie;
- Deng, Alexander T;
- Aledo-Serrano, Ángel;
- Borovikov, Artem;
- Kava, Maina;
- Bouman, Arjan M;
- Hajianpour, M J;
- Pal, Deb K;
- Engelen, Marc;
- Hagebeuk, Eveline E O;
- Shinawi, Marwan;
- Heidlebaugh, Alexis R
Publication type:
Article
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 923, doi. 10.1093/brain/awac305
By:
- Brünger, Tobias;
- Pérez-Palma, Eduardo;
- Montanucci, Ludovica;
- Nothnagel, Michael;
- Møller, Rikke S;
- Schorge, Stephanie;
- Zuberi, Sameer;
- Symonds, Joseph;
- Lemke, Johannes R;
- Brunklaus, Andreas;
- Traynelis, Stephen F;
- May, Patrick;
- Lal, Dennis
Publication type:
Article
Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 519, doi. 10.1093/brain/awac381
By:
- Iqbal, Sumaiya;
- Brünger, Tobias;
- Pérez-Palma, Eduardo;
- Macnee, Marie;
- Brunklaus, Andreas;
- Daly, Mark J;
- Campbell, Arthur J;
- Hoksza, David;
- May, Patrick;
- Lal, Dennis
Publication type:
Article
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Published in:
2022
By:
- Brunklaus, Andreas;
- Feng, Tony;
- Brünger, Tobias;
- Perez-Palma, Eduardo;
- Heyne, Henrike;
- Matthews, Emma;
- Semsarian, Christopher;
- Symonds, Joseph D;
- Zuberi, Sameer M;
- Lal, Dennis;
- Schorge, Stephanie
Publication type:
journal article
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Published in:
2022
By:
- Brunklaus, Andreas;
- Brünger, Tobias;
- Feng, Tony;
- Fons, Carmen;
- Lehikoinen, Anni;
- Panagiotakaki, Eleni;
- Vintan, Mihaela-Adela;
- Symonds, Joseph;
- Andrew, James;
- Arzimanoglou, Alexis;
- Delima, Sarah;
- Gallois, Julie;
- Hanrahan, Donncha;
- Lesca, Gaetan;
- MacLeod, Stewart;
- Marjanovic, Dragan;
- McTague, Amy;
- Nuñez-Enamorado, Noemi;
- Perez-Palma, Eduardo;
- Perry, M Scott
Publication type:
journal article
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Published in:
Bioinformatics, 2023, v. 39, n. 5, p. 1, doi. 10.1093/bioinformatics/btad290
By:
- Macnee, Marie;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Klöckner, Chiara;
- Platzer, Konrad;
- Stefanski, Arthur;
- Montanucci, Ludovica;
- Bayat, Allan;
- Radtke, Maximilian;
- Collins, Ryan L;
- Talkowski, Michael;
- Blankenberg, Daniel;
- Møller, Rikke S;
- Lemke, Johannes R;
- Nothnagel, Michael;
- May, Patrick;
- Lal, Dennis
Publication type:
Article
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Published in:
Nature Communications, 2023, n. 1, p. 1, doi. 10.1038/s41467-023-39539-6
By:
- Montanucci, Ludovica;
- Lewis-Smith, David;
- Collins, Ryan L.;
- Niestroj, Lisa-Marie;
- Parthasarathy, Shridhar;
- Xian, Julie;
- Ganesan, Shiva;
- Macnee, Marie;
- Brünger, Tobias;
- Thomas, Rhys H.;
- Talkowski, Michael;
- Motelow, Joshua E.;
- Povysil, Gundula;
- Dhindsa, Ryan S.;
- Stanley, Kate E.;
- Allen, Andrew S.;
- Goldstein, David B.;
- Feng, Yen-Chen Anne;
- Howrigan, Daniel P.;
- Abbott, Liam E.
Publication type:
Article
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 2, p. 322, doi. 10.1111/epi.17850
By:
- Perry, M. Scott;
- Scheffer, Ingrid E.;
- Sullivan, Joseph;
- Brunklaus, Andreas;
- Boronat, Susana;
- Wheless, James W.;
- Laux, Linda;
- Patel, Anup D.;
- Roberts, Colin M.;
- Dlugos, Dennis;
- Holder, Deborah;
- Knupp, Kelly G.;
- Lallas, Matt;
- Phillips, Steven;
- Segal, Eric;
- Smeyers, Patricia;
- Lal, Dennis;
- Wirrell, Elaine;
- Zuberi, Sameer;
- Brünger, Tobias
Publication type:
Article
ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.637890
By:
- Salles, Philippe A.;
- Mata, Ignacio F.;
- Brünger, Tobias;
- Lal, Dennis;
- Fernandez, Hubert H.
Publication type:
Article
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.
Published in:
Human Mutation, 2023, p. 1, doi. 10.1155/2023/8200176
By:
- Zarate, Yuri A.;
- Bosanko, Katherine;
- Kannan, Amrit;
- Thomason, Ashlen;
- Nutt, Beth;
- Kumar, Nihit;
- Simmons, Kirt;
- Hiegert, Aaron;
- Hartzell, Larry;
- Johnson, Adam;
- Prater, Tabitha;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Stefanski, Arthur;
- Lal, Dennis;
- Caffrey, Aisling R.
Publication type:
Article

Found: 11