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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
Mencacci, Niccolo E., Rubio-Agusti, Ignacio, Zdebik, Anselm, Asmus, Friedrich, Ludtmann, Marthe H.R., Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M.P., Peall, Kathryn, Morris, Huw R., Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M., Foltynie, Thomas, Abramov, Andrey Y., Gasser, Thomas, Bhatia, Kailash P., Wood, Nicholas W.
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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Journal Article
Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia
Zech, Michael, Lam, Daniel D., Francescatto, Ludmila, Schormair, Barbara, Salminen, Aaro V., Jochim, Angela, Wieland, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Lochmüller, Hanns, Strom, Tim M., Haslinger, Bernhard, Katsanis, Nicholas, Winkelmann, Juliane
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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Journal Article
Individualized tractography-based parcellation of the globus pallidus pars interna using 7T MRI in movement disorder patients prior to DBS surgery
Patriat, Rémi, Cooper, Scott E., Duchin, Yuval, Niederer, Jacob, Lenglet, Christophe, Aman, Joshua, Park, Michael C., Vitek, Jerrold L., Harel, Noam
Published in NeuroImage (Orlando, Fla.) (01.09.2018)
Published in NeuroImage (Orlando, Fla.) (01.09.2018)
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Journal Article
Defective cerebellar control of cortical plasticity in writer’s cramp
Hubsch, Cecile, Roze, Emmanuel, Popa, Traian, Russo, Margherita, Balachandran, Ammu, Pradeep, Salini, Mueller, Florian, Brochard, Vanessa, Quartarone, Angelo, Degos, Bertrand, Vidailhet, Marie, Kishore, Asha, Meunier, Sabine
Published in Brain (London, England : 1878) (01.07.2013)
Published in Brain (London, England : 1878) (01.07.2013)
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Journal Article
Striatal dopaminergic dysfunction at rest and during task performance in writer’s cramp
Berman, Brian D., Hallett, Mark, Herscovitch, Peter, Simonyan, Kristina
Published in Brain (London, England : 1878) (01.12.2013)
Published in Brain (London, England : 1878) (01.12.2013)
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Journal Article
Correlation of dystonia severity and iron accumulation in Rett syndrome
Jan, Tz-Yun, Wong, Lee-Chin, Yang, Ming-Tao, Huang, Chien-Feng Judith, Hsu, Chia-Jui, Peng, Steven Shinn-Forng, Tseng, Wen-Yih Isaac, Lee, Wang-Tso
Published in Scientific reports (12.01.2021)
Published in Scientific reports (12.01.2021)
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Journal Article
Reduced parietal connectivity with a premotor writing area in writer's cramp
Delnooz, Cathérine C.S., Helmich, Rick C., Toni, Ivan, van de Warrenburg, Bart P.C.
Published in Movement disorders (15.09.2012)
Published in Movement disorders (15.09.2012)
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Journal Article
Hypertrophy of nigral neurons in Torsin1A deletion (DYT1) carriers manifesting dystonia
Iacono, Diego, Geraci-Erck, Maria, Peng, Hui, Rabin, Marcie L., Kurlan, Roger
Published in Parkinsonism & related disorders (01.01.2019)
Published in Parkinsonism & related disorders (01.01.2019)
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Journal Article
Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
LeDoux, Mark S., Xiao, Jianfeng, Rudzińska, Monika, Bastian, Robert W., Wszolek, Zbigniew K., Van Gerpen, Jay A., Puschmann, Andreas, Momčilović, Dragana, Vemula, Satya R., Zhao, Yu
Published in Parkinsonism & related disorders (01.06.2012)
Published in Parkinsonism & related disorders (01.06.2012)
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Journal Article
Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings
Oblak, Adrian L., Hagen, Matthew C., Sweadner, Kathleen J., Haq, Ihtsham, Whitlow, Christopher T., Maldjian, Joseph A., Epperson, Francine, Cook, Jared F., Stacy, Mark, Murrell, Jill R., Ozelius, Laurie J., Brashear, Allison, Ghetti, Bernardino
Published in Acta neuropathologica (01.07.2014)
Published in Acta neuropathologica (01.07.2014)
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Journal Article
Restoration of motor inhibition through an abnormal premotor-motor connection in dystonia
Huang, Ying-Zu, Rothwell, John C., Lu, Chin-Song, Wang, JiunJie, Chen, Rou-Shayn
Published in Movement disorders (30.04.2010)
Published in Movement disorders (30.04.2010)
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Journal Article
The Subthalamic Nucleus in Primary Dystonia: Single-Unit Discharge Characteristics
Schrock, Lauren E, Ostrem, Jill L, Turner, Robert S, Shimamoto, Shoichi A, Starr, Philip A
Published in Journal of neurophysiology (01.12.2009)
Published in Journal of neurophysiology (01.12.2009)
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Journal Article
In vivo evidence for GABA A receptor changes in the sensorimotor system in primary dystonia
Garibotto, Valentina, Romito, Luigi M., Elia, Antonio E., Soliveri, Paola, Panzacchi, Andrea, Carpinelli, Assunta, Tinazzi, Michele, Albanese, Alberto, Perani, Daniela
Published in Movement disorders (01.04.2011)
Published in Movement disorders (01.04.2011)
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Journal Article
Writer's cramp: Increased dorsal premotor activity during intended writing
Delnooz, Cathérine C.S., Helmich, Rick C., Medendorp, W.P., Van de Warrenburg, Bart P.C., Toni, Ivan
Published in Human brain mapping (01.03.2013)
Published in Human brain mapping (01.03.2013)
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Journal Article
Lasting effects of repeated rTMS application in focal hand dystonia
Borich, Michael, Arora, Sanjeev, Kimberley, Teresa Jacobson
Published in Restorative neurology and neuroscience (01.01.2009)
Published in Restorative neurology and neuroscience (01.01.2009)
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Journal Article
Translational effects and coding potential of an upstream open reading frame associated with DOPA Responsive Dystonia
Jones, Lataisia, Goode, Lacy, Davila, Eduardo, Brown, Amber, McCarthy, Deirdre M., Sharma, Nutan, Bhide, Pradeep G., Armata, Ioanna A.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2017)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2017)
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Journal Article