Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review
Lange, Lara M., Junker, Johanna, Loens, Sebastian, Baumann, Hauke, Olschewski, Luisa, Schaake, Susen, Madoev, Harutyun, Petkovic, Sonja, Kuhnke, Neele, Kasten, Meike, Westenberger, Ana, Domingo, Aloysius, Marras, Connie, König, Inke R., Camargos, Sarah, Ozelius, Laurie J., Klein, Christine, Lohmann, Katja
Published in Movement disorders (01.05.2021)
Published in Movement disorders (01.05.2021)
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X-Linked Dystonia-Parkinsonism: recent advances
Bragg, D Cristopher, Sharma, Nutan, Ozelius, Laurie J
Published in Current opinion in neurology (01.08.2019)
Published in Current opinion in neurology (01.08.2019)
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Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation
Khosravani, Sanaz, Chen, Gang, Ozelius, Laurie J., Simonyan, Kristina
Published in Neurobiology of disease (01.01.2021)
Published in Neurobiology of disease (01.01.2021)
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Distinct neurological disorders with ATP1A3 mutations
Heinzen, Erin L, Dr, Arzimanoglou, Alexis, MD, Brashear, Allison, Prof, Clapcote, Steven J, PhD, Gurrieri, Fiorella, Prof, Goldstein, David B, Prof, Jóhannesson, Sigurður H, Mikati, Mohamad A, Prof, Neville, Brian, Prof, Nicole, Sophie, PhD, Ozelius, Laurie J, PhD, Poulsen, Hanne, PhD, Schyns, Tsveta, PhD, Sweadner, Kathleen J, PhD, van den Maagdenberg, Arn, Prof, Vilsen, Bente, Prof
Published in Lancet neurology (01.05.2014)
Published in Lancet neurology (01.05.2014)
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A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
Westenberger, Ana, Reyes, Charles Jourdan, Saranza, Gerard, Dobricic, Valerija, Hanssen, Henrike, Domingo, Aloysius, Laabs, Björn‐Hergen, Schaake, Susen, Pozojevic, Jelena, Rakovic, Aleksandar, Grütz, Karen, Begemann, Kimberly, Walter, Uwe, Dressler, Dirk, Bauer, Peter, Rolfs, Arndt, Münchau, Alexander, Kaiser, Frank J., Ozelius, Laurie J., Jamora, Roland Dominic, Rosales, Raymond L., Diesta, Cid Czarina E., Lohmann, Katja, König, Inke R., Brüggemann, Norbert, Klein, Christine
Published in Annals of neurology (01.06.2019)
Published in Annals of neurology (01.06.2019)
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Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions
Zakirova, Zuchra, Fanutza, Tomas, Bonet, Justine, Readhead, Ben, Zhang, Weijia, Yi, Zhengzi, Beauvais, Genevieve, Zwaka, Thomas P, Ozelius, Laurie J, Blitzer, Robert D, Gonzalez-Alegre, Pedro, Ehrlich, Michelle E
Published in PLoS genetics (24.01.2018)
Published in PLoS genetics (24.01.2018)
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Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition
Arystarkhova, Elena, Haq, Ihtsham U., Luebbert, Timothy, Mochel, Fanny, Saunders-Pullman, Rachel, Bressman, Susan B., Feschenko, Polina, Salazar, Cynthia, Cook, Jared F., Demarest, Scott, Brashear, Allison, Ozelius, Laurie J., Sweadner, Kathleen J.
Published in Neurobiology of disease (01.12.2019)
Published in Neurobiology of disease (01.12.2019)
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Revising rapid‐onset dystonia–parkinsonism: Broadening indications for ATP1A3 testing
Haq, Ihtsham U., Snively, Beverly M., Sweadner, Kathleen J., Suerken, Cynthia K., Cook, Jared F., Ozelius, Laurie J., Miller, Charlotte, McCall, William V., Whitlow, Christopher T., Brashear, Allison
Published in Movement disorders (01.10.2019)
Published in Movement disorders (01.10.2019)
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ATP1A3 Mutation in Adult Rapid-Onset Ataxia
Sweadner, Kathleen J, Toro, Camilo, Whitlow, Christopher T, Snively, Beverly M, Cook, Jared F, Ozelius, Laurie J, Markello, Thomas C, Brashear, Allison
Published in PloS one (18.03.2016)
Published in PloS one (18.03.2016)
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Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia
Lencz, Todd, Yu, Jin, Khan, Raiyan Rashid, Flaherty, Erin, Carmi, Shai, Lam, Max, Ben-Avraham, Danny, Barzilai, Nir, Bressman, Susan, Darvasi, Ariel, Cho, Judy H., Clark, Lorraine N., Gümüş, Zeynep H., Vijai, Joseph, Klein, Robert J., Lipkin, Steven, Offit, Kenneth, Ostrer, Harry, Ozelius, Laurie J., Peter, Inga, Malhotra, Anil K., Maniatis, Tom, Atzmon, Gil, Pe’er, Itsik
Published in Neuron (Cambridge, Mass.) (05.05.2021)
Published in Neuron (Cambridge, Mass.) (05.05.2021)
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Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Lohmann, Katja, Wilcox, Robert A., Winkler, Susen, Ramirez, Alfredo, Rakovic, Aleksandar, Park, Jin-Sung, Arns, Björn, Lohnau, Thora, Groen, Justus, Kasten, Meike, Brüggemann, Norbert, Hagenah, Johann, Schmidt, Alexander, Kaiser, Frank J., Kumar, Kishore R., Zschiedrich, Katja, Alvarez-Fischer, Daniel, Altenmüller, Eckart, Ferbert, Andreas, Lang, Anthony E., Münchau, Alexander, Kostic, Vladimir, Simonyan, Kristina, Agzarian, Marc, Ozelius, Laurie J., Langeveld, Antonius P. M., Sue, Carolyn M., Tijssen, Marina A. J., Klein, Christine
Published in Annals of neurology (01.04.2013)
Published in Annals of neurology (01.04.2013)
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Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex
Petrozziello, Tiziana, Mills, Alexandra N., Vaine, Christine A., Penney, Ellen B., Fernandez-Cerado, Cara, Legarda, Gierold Paul A., Velasco-Andrada, M. Salvie, Acuña, Patrick J., Ang, Mark A., Muñoz, Edwin L., Diesta, Cid Czarina E., Macalintal-Canlas, Regina, Acuña-Sunshine, Geraldine, Ozelius, Laurie J., Sharma, Nutan, Bragg, D. Cristopher, Sadri-Vakili, Ghazaleh
Published in Neurobiology of disease (01.10.2020)
Published in Neurobiology of disease (01.10.2020)
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Journal Article
Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia
Risch, Neil J., Bressman, Susan B., Senthil, Geetha, Ozelius, Laurie J.
Published in American journal of human genetics (01.06.2007)
Published in American journal of human genetics (01.06.2007)
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Journal Article
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
Gavarini, Sophie, Cayrol, Corinne, Fuchs, Tania, Lyons, Natalia, Ehrlich, Michelle E., Girard, Jean-Philippe, Ozelius, Laurie J.
Published in Annals of neurology (01.10.2010)
Published in Annals of neurology (01.10.2010)
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ATP1A3 mutations in infants: a new rapid‐onset dystonia–Parkinsonism phenotype characterized by motor delay and ataxia
BRASHEAR, ALLISON, MINK, JONATHAN W, HILL, DEBORAH F, BOGGS, NIKI, MCCALL, W VAUGHN, STACY, MARK A, SNIVELY, BEVERLY, LIGHT, LANEY S, SWEADNER, KATHLEEN J, OZELIUS, LAURIE J, MORRISON, LESLIE
Published in Developmental medicine and child neurology (01.11.2012)
Published in Developmental medicine and child neurology (01.11.2012)
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