Genetics in Dystonia: An Update

Tekijä Fuchs, Tania, Ozelius, Laurie J.
Julkaistu 2013

Genetic and clinical features of primary torsion dystonia

Tekijä Ozelius, Laurie J., Bressman, Susan B.
Julkaistu 2010

X-Linked Dystonia-Parkinsonism: Recent Advances

Tekijä Bragg, D. Cristopher, Sharma, Nutan, Ozelius, Laurie J.
Julkaisussa Curr Opin Neurol (2019)

Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation

Tekijä Khosravani, Sanaz, Chen, Gang, Ozelius, Laurie J., Simonyan, Kristina
Julkaisussa Neurobiol Dis (2020)

Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations

Tekijä Arystarkhova, Elena, Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J.
Julkaisussa J Biol Chem (2020)

Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia

Tekijä Risch, Neil J. , Bressman, Susan B. , Senthil, Geetha , Ozelius, Laurie J. 
Julkaistu 2007

Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion

Tekijä Armata, Ioanna A., Diplas, Andreas I., Ozelius, Laurie J., Shashidharan, Pullanipally
Julkaistu 2012

Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia

Tekijä Battistella, Giovanni, Fuertinger, Stefan, Fleysher, Lazar, Ozelius, Laurie J., Simonyan, Kristina
Julkaisussa Eur J Neurol (2016)

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain

Tekijä Sengel, Cem, Gavarini, Sophie, Sharma, Nutan, Ozelius, Laurie J., Bragg, D. Cristopher
Julkaistu 2011

Novel compound heterozygous mutations in PRKRA cause pure dystonia

Tekijä de Carvalho Aguiar, Patricia, Borges, Vanderci, Ferraz, Henrique Ballalai, Ozelius, Laurie Jean
Julkaisussa Mov Disord (2015)

Phenomenology, Genetics and CNS network abnormalities in Laryngeal Dystonia: a 30 year experience

Tekijä Blitzer, Andrew, Brin, Mitchell F., Simonyan, Kristina, Ozelius, Laurie J, Frucht, Steven J
Julkaisussa Laryngoscope (2017)

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3

Tekijä Sweadner, Kathleen J., Arystarkhova, Elena, Penniston, John T., Swoboda, Kathryn J., Brashear, Allison, Ozelius, Laurie J.
Julkaisussa Neurol Genet (2019)

THAP1 (DYT6) mutations in early-onset primary dystonia

Tekijä Bressman, Susan B., Raymond, Deborah, Fuchs, Tania, Heiman, Gary A., Ozelius, Laurie J., Saunders-Pullman, Rachel
Julkaistu 2009

Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity

Tekijä Putzel, Gregory Garbès, Battistella, Giovanni, Rumbach, Anna F, Ozelius, Laurie J, Sabuncu, Mert R, Simonyan, Kristina
Julkaisussa Cereb Cortex (2018)

A Direct Interaction between Causative Genes of DYT1 and DYT6 Primary Dystonia

Tekijä Gavarini, Sophie, Cayrol, Corinne, Fuchs, Tania, Lyons, Natalia, Ehrlich, Michelle E., Girard, Jean-Philippe, Ozelius, Laurie J
Julkaistu 2010

Association of a functional polymorphism in the cholesteryl ester transfer protein (CETP) gene with memory decline and incidence of dementia

Tekijä Sanders, Amy E., Wang, Cuiling, Katz, Mindy, Derby, Carol A., Barzilai, Nir, Ozelius, Laurie, Lipton, Richard B.
Julkaistu 2010

Mutation in 5’upstream region of GCHI gene causes familial dopa-responsive dystonia

Tekijä Sharma, Nutan, Armata, Ioanna A., Multhaupt-Buell, Trisha J., Ozelius, Laurie J., Xin, Winnie, Sims, Katherine B.
Julkaistu 2011

Metabolic changes in DYT11 myoclonus-dystonia

Tekijä Carbon, Maren, Raymond, Deborah, Ozelius, Laurie, Saunders-Pullman, Rachel, Frucht, Steven, Dhawan, Vijay, Bressman, Susan, Eidelberg, David
Julkaistu 2013

Mood and Cognition in Leucine-rich Repeat Kinase 2 G2019S Parkinson’s Disease

Tekijä Shanker, Vicki, Groves, Mark, Heiman, Gary, Palmese, Christina, Saunders-Pullman, Rachel, Ozelius, Laurie, Raymond, Deborah, Bressman, Susan
Julkaistu 2011

Benign SLC39A14 Course of Dystonia‐Parkinsonism Secondary to Inherited Manganese Accumulation

Tekijä Namnah, Montaser, Bauer, Max, Mor‐Shaked, Hagar, Bressman, Susan B., Raymond, Deborah, Ozelius, Laurie J., Arkadir, David
Julkaisussa Mov Disord Clin Pract (2020)