Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP)

por Mertin, Renana, Diesta, Cid, Brüggemann, Norbert, Rosales, Raymond L., Hanssen, Henrike, Westenberger, Ana, Steinhardt, Julia, Heldmann, Marcus, Manalo, Hans T. S., Oropilla, Jean Q., Klein, Christine, Helmchen, Christoph, Sprenger, Andreas
Publicado 2023

Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism

por Pasco, Paul Matthew D., Jamora, Roland Dominic G., Rosales, Raymond L., Diesta, Cid Czarina E., Ng, Arlene R., Teleg, Rosalia A., Go, Criscely L., Lee, Lillian, Fernandez, Hubert H.
Publicado 2017

Historical and More Common Nongenetic Movement Disorders From Asia

por Ibrahim, Norlinah Mohamed, Jagota, Priya, Pal, Pramod Kumar, Bhidayasiri, Roongroj, Lim, Shen-Yang, Ugawa, Yoshikazu, Aldaajani, Zakiyah, Jeon, Beomseok, Fujioka, Shinsuke, Lee, Jee-Young, Kukkle, Prashanth Lingappa, Shang, Huifang, Phokaewvarangkul, Onanong, Diesta, Cid, Shambetova, Cholpon, Lin, Chin-Hsien
Publicado 2023

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing

por Lüth, Theresa, Laβ, Joshua, Schaake, Susen, Wohlers, Inken, Pozojevic, Jelena, Jamora, Roland Dominic G., Rosales, Raymond L., Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E., Schlüter, Kathleen, Tse, Ronnie, Reyes, Charles Jourdan, Brand, Max, Busch, Hauke, Klein, Christine, Westenberger, Ana, Trinh, Joanne
Publicado 2022

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

por Trinh, Joanne, Lüth, Theresa, Schaake, Susen, Laabs, Björn-Hergen, Schlüter, Kathleen, Laβ, Joshua, Pozojevic, Jelena, Tse, Ronnie, König, Inke, Jamora, Roland Dominic, Rosales, Raymond L, Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E, Kaiser, Frank J, Depienne, Christel, Pearson, Christopher E, Westenberger, Ana, Klein, Christine
Publicado 2022

Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism

por Capponi, Simona, Stöffler, Nadja, Penney, Ellen B, Grütz, Karen, Nizamuddin, Sheikh, Vermunt, Marit W, Castelijns, Bas, Fernandez-Cerado, Cara, Legarda, G Paul, Velasco-Andrada, M Salvie, Muñoz, Edwin L, Ang, Mark A, Diesta, Cid Czarina E, Creyghton, Menno P, Klein, Christine, Bragg, D Cristopher, De Rijk, Peter, Timmers, H T Marc
Publicado 2021

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution

por Jagota, Priya, Ugawa, Yoshikazu, Aldaajani, Zakiyah, Ibrahim, Norlinah Mohamed, Ishiura, Hiroyuki, Nomura, Yoshiko, Tsuji, Shoji, Diesta, Cid, Hattori, Nobutaka, Onodera, Osamu, Bohlega, Saeed, Al-Din, Amir, Lim, Shen-Yang, Lee, Jee-Young, Jeon, Beomseok, Pal, Pramod Kumar, Shang, Huifang, Fujioka, Shinsuke, Kukkle, Prashanth Lingappa, Phokaewvarangkul, Onanong, Lin, Chin-Hsien, Shambetova, Cholpon, Bhidayasiri, Roongroj
Publicado 2023

Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon

por Pozojevic, Jelena, Algodon, Shela Marie, Cruz, Joseph Neos, Trinh, Joanne, Brüggemann, Norbert, Laß, Joshua, Grütz, Karen, Schaake, Susen, Tse, Ronnie, Yumiceba, Veronica, Kruse, Nathalie, Schulz, Kristin, Sreenivasan, Varun K. A., Rosales, Raymond L., Jamora, Roland Dominic G., Diesta, Cid Czarina E., Matschke, Jakob, Glatzel, Markus, Seibler, Philip, Händler, Kristian, Rakovic, Aleksandar, Kirchner, Henriette, Spielmann, Malte, Kaiser, Frank J., Klein, Christine, Westenberger, Ana
Publicado 2022

SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene

por Petrozziello, Tiziana, Dios, Amanda M., Mueller, Kaly A., Vaine, Christine A., Hendriks, William T., Glajch, Kelly E., Mills, Alexandra N., Mangkalaphiban, Kotchaphorn, Penney, Ellen B., Ito, Naoto, 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, Geraldine, Sharma, Nutan, Ozelius, Laurie J., Bragg, D. Cristopher, Sadri-Vakili, Ghazaleh
Publicado 2020

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

por Laabs, Björn-Hergen, Klein, Christine, Pozojevic, Jelena, Domingo, Aloysius, Brüggemann, Norbert, Grütz, Karen, Rosales, Raymond L., Jamora, Roland Dominic, Saranza, Gerard, Diesta, Cid Czarina E., Wittig, Michael, Schaake, Susen, Dulovic-Mahlow, Marija, Quismundo, Jana, Otto, Pia, Acuna, Patrick, Go, Criscely, Sharma, Nutan, Multhaupt-Buell, Trisha, Müller, Ulrich, Hanssen, Henrike, Kilpert, Fabian, Franke, Andre, Rolfs, Arndt, Bauer, Peter, Dobričić, Valerija, Lohmann, Katja, Ozelius, Laurie J., Kaiser, Frank J., König, Inke R., Westenberger, Ana
Publicado 2021

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

por Campion, Lindsey N., Meijia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.
Publicado 2022

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

por Campion, Lindsey N., Mejia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.
Publicado 2022

Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism

por Fernandez-Cerado, Cara, Legarda, G. Paul, Velasco-Andrada, M. Salvie, Aguil, Abegail, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Soria, Jasmin, Jamora, Roland Dominic G., Acuña, Patrick J., Vanderburg, Charles, Sapp, Ellen, DiFiglia, Marian, Murcar, Micaela G., Campion, Lindsey, Ozelius, Laurie J., Alessi, Amy K., Singh-Bains, Malvindar K., Waldvogel, Henry J., Faull, Richard L. M., Macalintal-Canlas, Regina, Muñoz, Edwin L., Penney, Ellen B., Ang, Mark A., Diesta, Cid Czarina E., Bragg, D. Cristopher, Acuña-Sunshine, Geraldine
Publicado 2021