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Select item 49500031.

Phenotypic insights into ADCY5‐associated disease

Florence C.F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez‐Dueñas, Padraic Grattan‐Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung

Mov Disord. 2016 Jul; 31(7): 1033–1040. Published online 2016 Apr 8. doi: 10.1002/mds.26598

PMCID:: PMC4950003

Abstract Article PDF–366K

Select item 77466012.

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

Mariella T. Simon, Shaya S. Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi'a Sefuiva Reupena, Stephen T. McGarvey, Ryan L. Minster, Daniel E. Weeks, The Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group, Daniel D. Nguyen, Sansan Lee, Katarzyna A. Ellsworth, Frédéric M. Vaz, David Dimmock, James Pitt, Jose E. Abdenur

Am J Med Genet A. 2021 Jan; 185(1): 157–167. Published online 2020 Oct 28. doi: 10.1002/ajmg.a.61936

PMCID:: PMC7746601

Abstract Article PDF–2.0M

Select item 76838233.

Auditory-Perceptual Voice and Speech Evaluation in ATP1A3 Positive Patients

Mary E. Moya-Mendez, Lyndsay L. Madden, Kathryn W. Ruckart, Karen M. Downes, Jared F. Cook, Beverly M. Snively, Allison Brashear, Ihtsham U. Haq

J Clin Neurosci. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: J Clin Neurosci. 2020 Nov; 81: 133–138. Published online 2020 Oct 5. doi: 10.1016/j.jocn.2020.09.007

PMCID:: PMC7683823

Abstract Article PDF–1.1M

Select item 72432674.

X-Linked Dystonia-Parkinsonism: Recent Advances

D. Cristopher Bragg, Nutan Sharma, Laurie J. Ozelius

Curr Opin Neurol. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: Curr Opin Neurol. 2019 Aug; 32(4): 604–609. doi: 10.1097/WCO.0000000000000708

PMCID:: PMC7243267

Abstract Article PDF–65K

Select item 70769215.

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review

Yung-Tsai Chu, Han-Yi Lin, Pei-Lung Chen, Chin-Hsien Lin

BMC Neurol. 2020; 20: 101. Published online 2020 Mar 17. doi: 10.1186/s12883-020-01684-6

PMCID:: PMC7076921

Abstract Article PDF–2.2M

Select item 68158796.

A novel SUCLA2 mutation presenting as a complex childhood movement disorder

Caterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini, Catarina M Quinzii, Michio Hirano

J Child Neurol. Author manuscript; available in PMC 2019 Oct 28.

Published in final edited form as: J Child Neurol. 2017 Feb; 32(2): 246–250. Published online 2016 Sep 28. doi: 10.1177/0883073816666221

PMCID:: PMC6815879

Abstract Article PDF–611K

Select item 66741487.

Distinct Physiological Mechanisms Underlie Altered Glycinergic Synaptic Transmission in the Murine Mutants spastic, spasmodic, and oscillator

Brett A. Graham, Peter R. Schofield, Pankaj Sah, Troy W. Margrie, Robert J. Callister

J Neurosci. 2006 May 3; 26(18): 4880–4890. doi: 10.1523/JNEUROSCI.3991-05.2006

PMCID:: PMC6674148

Abstract Article PDF–1.0M

Select item 62313248.

Expression of Bax/Bcl-2, TGF-β1, and Type III Collagen Fiber in Congenital Muscular Torticollis

Dianguo Li, Kelai Wang, Wei Zhang, Junfeng Wang

Med Sci Monit. 2018; 24: 7869–7874. Published online 2018 Nov 3. doi: 10.12659/MSM.909064

PMCID:: PMC6231324

Abstract Article PDF–906K

Select item 58315099.

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

Tatsiana Aneichyk, William T. Hendriks, Rachita Yadav, David Shin, Dadi Gao, Christine A. Vaine, Ryan L. Collins, Aloysius Domingo, Benjamin Currall, Alexei Stortchevoi, Trisha Multhaupt-Buell, Ellen B. Penney, Lilian Cruz, Jyotsna Dhakal, Harrison Brand, Carrie Hanscom, Caroline Antolik, Marisela Dy, Ashok Ragavendran, Jason Underwood, Stuart Cantsilieris, Katherine M. Munson, Evan E. Eichler, Patrick Acuña, Criscely Go, R. Dominic G. Jamora, Raymond L. Rosales, Deanna M. Church, Stephen R. Williams, Sarah Garcia, Christine Klein, Ulrich Müller, Kirk C. Wilhelmsen, H. T. Marc Timmers, Yechiam Sapir, Brian J. Wainger, Daniel Henderson, Naoto Ito, Neil Weisenfeld, David Jaffe, Nutan Sharma, Xandra O. Breakefield, Laurie J. Ozelius, D. Cristopher Bragg, Michael E. Talkowski

Cell. Author manuscript; available in PMC 2019 Feb 22.

Published in final edited form as: Cell. 2018 Feb 22; 172(5): 897–909.e21. doi: 10.1016/j.cell.2018.02.011

PMCID:: PMC5831509

Abstract Article PDF–2.6M

Select item 574448610.

Parkinsonism without dopamine neuron degeneration in aged DOPA-responsive dystonia knockin mice

Samuel J. Rose, Porter Harrast, Christine Donsante, Xueliang Fan, Valerie Joers, Malύ G. Tansey, H.A. Jinnah, Ellen J. Hess

Mov Disord. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Mov Disord. 2017 Dec; 32(12): 1694–1700. Published online 2017 Sep 26. doi: 10.1002/mds.27169

PMCID:: PMC5744486

Abstract Article PDF–1.0M

Select item 557876211.

Phenotype- and Genotype-Specific Structural Alterations in Spasmodic Dysphonia

Serena Bianchi, Giovanni Battistella, Hailey Huddleston, Rebecca Scharf, Lazar Fleysher, Anna F. Rumbach, Steven J. Frucht, Andrew Blitzer, Laurie J. Ozelius, Kristina Simonyan

Mov Disord. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Mov Disord. 2017 Apr; 32(4): 560–568. Published online 2017 Feb 10. doi: 10.1002/mds.26920

PMCID:: PMC5578762

Abstract Article PDF–291K

Select item 529466512.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K. Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L. Huttlin, Joao A. Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V. Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A. Gahl, J. Wade Harper, Nenad Blau, Georg F. Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff

Am J Hum Genet. 2017 Feb 2; 100(2): 257–266. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.002

PMCID:: PMC5294665

Abstract Article PDF–1.0M

Select item 780976913.

Exome sequencing in paediatric patients with movement disorders

Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung

Orphanet J Rare Dis. 2021; 16: 32. Published online 2021 Jan 15. doi: 10.1186/s13023-021-01688-6

PMCID:: PMC7809769

Abstract Article PDF–1.1M

Select item 485250214.

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells

Naoto Ito, William T. Hendriks, Jyotsna Dhakal, Christine A. Vaine, Christina Liu, David Shin, Kyle Shin, Noriko Wakabayashi-Ito, Marisela Dy, Trisha Multhaupt-Buell, Nutan Sharma, Xandra O. Breakefield, D. Cristopher Bragg

Dis Model Mech. 2016 Apr 1; 9(4): 451–462. doi: 10.1242/dmm.022590

PMCID:: PMC4852502

Abstract Article

Select item 466953215.

Altered brain activation in a reversal learning task unmasks adaptive changes in cognitive control in writer's cramp

Kirsten E. Zeuner, Arne Knutzen, Oliver Granert, Simone Sablowsky, Julia Götz, Stephan Wolff, Olav Jansen, Dirk Dressler, Susanne A. Schneider, Christine Klein, Günther Deuschl, Thilo van Eimeren, Karsten Witt

Neuroimage Clin. 2016; 10: 63–70. Published online 2015 Nov 23. doi: 10.1016/j.nicl.2015.11.006

PMCID:: PMC4669532

Abstract Article PDF–878K

Select item 417724216.

Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions

Maitane Ortiz-Virumbrales, Marta Ruiz, Eugene Hone, Georgia Dolios, Rong Wang, Andrika Morant, Jessica Kottwitz, Laurie J Ozelius, Sam Gandy, Michelle E Ehrlich

Acta Neuropathol Commun. 2014; 2: 139. Published online 2014 Sep 18. doi: 10.1186/s40478-014-0139-1

PMCID:: PMC4177242

Abstract Article PDF–2.1M

Select item 351192617.

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, Grazia Bruccini, Gaetano Tortorella, Renzo Guerrini

Neurology. 2012 Nov 20; 79(21): 2109–2114. doi: 10.1212/WNL.0b013e3182752ca2

PMCID:: PMC3511926

Abstract Article PDF–753K

Select item 347153918.

Cholinergic Dysfunction Alters Synaptic Integration between Thalamostriatal and Corticostriatal Inputs in DYT1 Dystonia

Giuseppe Sciamanna, Annalisa Tassone, Georgia Mandolesi, Francesca Puglisi, Giulia Ponterio, Giuseppina Martella, Graziella Madeo, Giorgio Bernardi, David G. Standaert, Paola Bonsi, Antonio Pisani

J Neurosci. 2012 Aug 29; 32(35): 11991–12004. doi: 10.1523/JNEUROSCI.0041-12.2012

PMCID:: PMC3471539

Abstract Article PDF–4.2M

Select item 339241119.

Cholinergic dysregulation produced by selective inactivation of the dystonia-associated protein TorsinA

Giuseppe Sciamanna, Robert Hollis, Chelsea Ball, Giuseppina Martella, Annalisa Tassone, Andrea Marshall, Dee Parsons, Xinru Li, Fumiaki Yokoi, Lin Zhang, Yuqing Li, Antonio Pisani, David G. Standaert

Neurobiol Dis. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Neurobiol Dis. 2012 Sep; 47(3): 416–427. Published online 2012 May 3. doi: 10.1016/j.nbd.2012.04.015

PMCID:: PMC3392411

Abstract Article PDF–3.7M

Select item 282622520.

Anti–N-Methyl-D-Aspartate Receptor (NMDAR) Encephalitis in Children and Adolescents

Nicole R. Florance, Rebecca L. Davis, Christopher Lam, Christina Szperka, Lei Zhou, Saba Ahmad, Cynthia J. Campen, Heather Moss, Nadja Peter, Amy J. Gleichman, Carol A. Glaser, David R. Lynch, Myrna R. Rosenfeld, Josep Dalmau

Ann Neurol. Author manuscript; available in PMC 2010 Feb 22.

Published in final edited form as: Ann Neurol. 2009 Jul; 66(1): 11–18. doi: 10.1002/ana.21756

PMCID:: PMC2826225

Abstract Article PDF–1.8M

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