Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
Charlesworth, Gavin, Plagnol, Vincent, Holmström, Kira M., Bras, Jose, Sheerin, Una-Marie, Preza, Elisavet, Rubio-Agusti, Ignacio, Ryten, Mina, Schneider, Susanne A., Stamelou, Maria, Trabzuni, Daniah, Abramov, Andrey Y., Bhatia, Kailash P., Wood, Nicholas W.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
BRAS, Jose, VERLOES, Alain, SCHNEIDER, Susanne A, MOLE, Sara E, GUERREIRO, Rita J
Published in Human molecular genetics (15.06.2012)
Published in Human molecular genetics (15.06.2012)
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Journal Article
Clinical and pathological features of Parkinson's disease
Schneider, Susanne A, Obeso, Jose A
Published in Current topics in behavioral neurosciences (01.01.2015)
Published in Current topics in behavioral neurosciences (01.01.2015)
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Journal Article
Oculogyric crises: Etiology, pathophysiology and therapeutic approaches
Barow, Ewgenia, Schneider, Susanne A, Bhatia, Kailash P, Ganos, Christos
Published in Parkinsonism & related disorders (01.03.2017)
Published in Parkinsonism & related disorders (01.03.2017)
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Journal Article
Faciobrachial dystonic seizures: the influence of immunotherapy on seizure control and prevention of cognitive impairment in a broadening phenotype
Irani, Sarosh R., Stagg, Charlotte J., Schott, Jonathan M., Rosenthal, Clive R., Schneider, Susanne A., Pettingill, Philippa, Pettingill, Rosemary, Waters, Patrick, Thomas, Adam, Voets, Natalie L., Cardoso, Manuel J., Cash, David M., Manning, Emily N., Lang, Bethan, Smith, Shelagh J. M., Vincent, Angela, Johnson, Michael R.
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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Journal Article
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia
Colombo, Alessio, Dinkel, Lina, Müller, Stephan A, Sebastian Monasor, Laura, Schifferer, Martina, Cantuti-Castelvetri, Ludovico, König, Jasmin, Vidatic, Lea, Bremova-Ertl, Tatiana, Lieberman, Andrew P, Hecimovic, Silva, Simons, Mikael, Lichtenthaler, Stefan F, Strupp, Michael, Schneider, Susanne A, Tahirovic, Sabina
Published in Nature communications (24.02.2021)
Published in Nature communications (24.02.2021)
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Journal Article
Characterization of PLA2G6 as a locus for dystonia-parkinsonism
Paisan-Ruiz, Coro, Bhatia, Kailash P., Li, Abi, Hernandez, Dena, Davis, Mary, Wood, Nick W., Hardy, John, Houlden, Henry, Singleton, Andrew, Schneider, Susanne A.
Published in Annals of neurology (01.01.2009)
Published in Annals of neurology (01.01.2009)
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Journal Article
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)
Schneider, Susanne A, Dusek, Petr, Hardy, John, Westenberger, Ana, Jankovic, Joseph, Bhatia, Kailash P
Published in Current neuropharmacology (01.01.2013)
Published in Current neuropharmacology (01.01.2013)
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Journal Article
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia
Brüggemann, Norbert, Kühn, Andrea, Schneider, Susanne A, Kamm, Christoph, Wolters, Alexander, Krause, Patricia, Moro, Elena, Steigerwald, Frank, Wittstock, Matthias, Tronnier, Volker, Lozano, Andres M, Hamani, Clement, Poon, Yu-Yan, Zittel, Simone, Wächter, Tobias, Deuschl, Günther, Krüger, Rejko, Kupsch, Andreas, Münchau, Alexander, Lohmann, Katja, Volkmann, Jens, Klein, Christine
Published in Neurology (03.03.2015)
Published in Neurology (03.03.2015)
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Journal Article
The phenotypic spectrum of DYT24 due to ANO3 mutations
Stamelou, Maria, Charlesworth, Gavin, Cordivari, Carla, Schneider, Susanne A., Kägi, Georg, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Batla, Amit, Houlden, Henry, Wood, Nicholas W., Bhatia, Kailash P.
Published in Movement disorders (01.06.2014)
Published in Movement disorders (01.06.2014)
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Journal Article
Disruption of the sodium-dependent citrate transporter SLC13A5 in mice causes alterations in brain citrate levels and neuronal network excitability in the hippocampus
Henke, Christine, Töllner, Kathrin, van Dijk, R. Maarten, Miljanovic, Nina, Cordes, Thekla, Twele, Friederike, Bröer, Sonja, Ziesak, Vanessa, Rohde, Marco, Hauck, Stefanie M., Vogel, Charlotte, Welzel, Lisa, Schumann, Tina, Willmes, Diana M., Kurzbach, Anica, El-Agroudy, Nermeen N., Bornstein, Stefan R., Schneider, Susanne A., Jordan, Jens, Potschka, Heidrun, Metallo, Christian M., Köhling, Rüdiger, Birkenfeld, Andreas L., Löscher, Wolfgang
Published in Neurobiology of disease (01.09.2020)
Published in Neurobiology of disease (01.09.2020)
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Journal Article
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
Weber, Yvonne G, Storch, Alexander, Wuttke, Thomas V, Brockmann, Knut, Kempfle, Judith, Maljevic, Snezana, Margari, Lucia, Kamm, Christoph, Schneider, Susanne A, Huber, Stephan M, Pekrun, Arnulf, Roebling, Robert, Seebohm, Guiscard, Koka, Saisudha, Lang, Camelia, Kraft, Eduard, Blazevic, Dragica, Salvo-Vargas, Alberto, Fauler, Michael, Mottaghy, Felix M, Münchau, Alexander, Edwards, Mark J, Presicci, Anna, Margari, Francesco, Gasser, Thomas, Lang, Florian, Bhatia, Kailash P, Lehmann-Horn, Frank, Lerche, Holger
Published in The Journal of clinical investigation (01.06.2008)
Published in The Journal of clinical investigation (01.06.2008)
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Journal Article
Dopaminergic medication boosts action–effect binding in Parkinson's disease
Moore, James W., Schneider, Susanne A., Schwingenschuh, Petra, Moretto, Giovanna, Bhatia, Kailash P., Haggard, Patrick
Published in Neuropsychologia (01.03.2010)
Published in Neuropsychologia (01.03.2010)
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Journal Article
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias
Schneider, Susanne A., Paisan-Ruiz, Coro, Garcia-Gorostiaga, Ines, Quinn, Niall P., Weber, Yvonne G., Lerche, Holger, Hardy, John, Bhatia, Kailash P.
Published in Movement disorders (15.08.2009)
Published in Movement disorders (15.08.2009)
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Journal Article
Relationship between COVID‐19 and movement disorders: A narrative review
Schneider, Susanne A., Hennig, Anita, Martino, Davide
Published in European journal of neurology (01.04.2022)
Published in European journal of neurology (01.04.2022)
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Journal Article