Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study von Bressman, Susan B, MD, Raymond, Deborah, MS, Fuchs, Tania, PhD, Heiman, Gary A, PhD, Ozelius, Laurie J, PhD, Saunders-Pullman, Rachel, MD

Volltext

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia von Ozelius, Laurie J, Fuchs, Tania, Gavarini, Sophie, Saunders-Pullman, Rachel, Raymond, Deborah, Ehrlich, Michelle E, Bressman, Susan B

Volltext

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia von Gavarini, Sophie, Cayrol, Corinne, Fuchs, Tania, Lyons, Natalia, Ehrlich, Michelle E., Girard, Jean-Philippe, Ozelius, Laurie J.

Volltext

Mutations in THAP1 ( DYT6 ) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study von Djarmati, Ana, PhD, Schneider, Susanne A, MD, Lohmann, Katja, PhD, Winkler, Susen, BSc, Pawlack, Heike, BSc, Hagenah, Johann, MD, Brüggemann, Norbert, MD, Zittel, Simone, MD, Fuchs, Tania, PhD, Raković, Aleksandar, MSc, Schmidt, Alexander, MD, Jabusch, Hans-Christian, MD, Wilcox, Robert, MD, Kostić, Vladimir S, MD, Siebner, Hartwig, MD, Altenmüller, Eckart, MD, Münchau, Alexander, MD, Ozelius, Laurie J, PhD, Klein, Christine, MD

Volltext

Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia von de Gusmão, Claudio M., Fuchs, Tania, Moses, Andrew, Multhaupt-Buell, Trisha, Song, Phillip C., Ozelius, Laurie J., Franco, Ramon A., Sharma, Nutan

Volltext

Mutations in GNAL cause primary torsion dystonia von Fuchs, Tania, Saunders-Pullman, Rachel, Masuho, Ikuo, Luciano, Marta San, Raymond, Deborah, Factor, Stewart, Lang, Anthony E, Liang, Tsao-Wei, Trosch, Richard M, White, Sierra, Ainehsazan, Edmond, Hervé, Denis, Sharma, Nutan, Ehrlich, Michelle E, Martemyanov, Kirill A, Bressman, Susan B, Ozelius, Laurie J

Volltext

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia von Ruiz, Marta, Perez-Garcia, Georgina, Ortiz-Virumbrales, Maitane, Méneret, Aurelie, Morant, Andrika, Kottwitz, Jessica, Fuchs, Tania, Bonet, Justine, Gonzalez-Alegre, Pedro, Hof, Patrick R, Ozelius, Laurie J, Ehrlich, Michelle E

Volltext

GNAL mutation in isolated laryngeal dystonia von Putzel, Gregory G., Fuchs, Tania, Battistella, Giovanni, Rubien-Thomas, Estee, Frucht, Steven J., Blitzer, Andrew, Ozelius, Laurie J., Simonyan, Kristina

Volltext

Pallidal deep brain stimulation for DYT6 dystonia von Panov, Fedor, Tagliati, Michele, Ozelius, Laurie J, Fuchs, Tania, Gologorsky, Yakov, Cheung, Tyler, Avshalumov, Marat, Bressman, Susan B, Saunders-Pullman, Rachel, Weisz, Donald, Alterman, Ron L

Volltext

Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites von Saunders-Pullman, Rachel, Fuchs, Tania, San Luciano, Marta, Raymond, Deborah, Brashear, Alison, Ortega, Robert, Deik, Andres, Ozelius, Laurie J., Bressman, Susan B.

Volltext

Genetics in Dystonia: An Update von Fuchs, Tania, Ozelius, Laurie J.

Volltext

Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. (P2.139) von De Gusmao, Claudio, Sharma, Nutan, Moses, Andrew, Multhaupt-Buell, Trisha, Song, Phillip, Fuchs, Tania, Franco, Ramon, Ozelius, Laurie

Volltext

The canine olfactory subgenome von Olender, Tsviya, Fuchs, Tania, Linhart, Chaim, Shamir, Ron, Adams, Mark, Kalush, Francis, Khen, Miriam, Lancet, Doron

Volltext

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion von De Carvalho Aguiar, Patricia, Fuchs, Tania, Borges, Vanderci, Lamar, Kay-Marie, Silva, Sonia Maria Azevedo, Ferraz, Henrique Ballalai, Ozelius, Laurie

Volltext

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia von Sharma, Nutan, Franco Jr, Ramon A., Kuster, John K., Mitchell, Adele A., Fuchs, Tania, Saunders-Pullman, Rachel, Raymond, Deborah, Brin, Mitchell F., Blitzer, Andrew, Bressman, Susan B., Ozelius, Laurie J.

Volltext

THAP1 (DYT6) mutations in early-onset primary dystonia von Bressman, Susan B., Raymond, Deborah, Fuchs, Tania, Heiman, Gary A., Ozelius, Laurie J., Saunders-Pullman, Rachel

Volltext

Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a De Novo TORIA GAG Deletion von DE CARVALHO AGUIAR, Patricia, FUCHS, Tania, BORGES, Vanderci, LAMAR, Kay-Marie, AZEVEDO SILVA, Sonia Maria, BALLALAI FERRAZ, Henrique, OZELIUS, Laurie

Volltext

Structural aspect of gelation in schizophyllan/sorbitol aqueous solution von MAEDA, H, YUGUCHI, Y, KITAMURA, S, URAKAWA, H, KAJIWARA, K, RICHTERING, W, FUCHS, T, BURCHARD, W

Volltext

The human olfactory subgenome : from sequence to structure and evolution von FUCHS, Tania, GLUSMAN, Gustavo, HORN-SABAN, Shirley, LANCET, Doron, PILPEL, Yitzhak

Volltext

Removal of proteasomes from the nucleus and their accumulation in apoptotic blebs during programmed cell death von Pitzer, Frank, Dantes, Ada, Fuchs, Tania, Baumeister, Wolfgang, Amsterdam, Abraham

Volltext