Citations (101)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (1)
Simona Capponi, Nadja Stöffler, Manuel Irimia, Frederik M.A. Van Schaik, Mercedes M. Ondik, Martin L. Biniossek, Lisa Lehmann, Julia Mitschke, Marit W. Vermunt, Menno P. Creyghton, Ann M. Graybiel, Thomas Reinheckel, Oliver Schilling, Benjamin J. Blencowe, Jill R. Crittenden & H. Th. Marc Timmers. (2020) Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100. RNA Biology 17:1, pages 62-74.
Read now
Read now
Articles from other publishers (100)
Anisah Hayaminnah D. Alonto & Roland Dominic G. Jamora. (2023) A scoping review on the diagnosis and treatment of X-linked dystonia-parkinsonism. Parkinsonism & Related Disorders, pages 105949.
Crossref
Crossref
Kizito-Tshitoko Tshilenge, Joanna Bons, Carlos Galicia Aguirre, Cristian Geronimo-Olvera, Samah Shah, Jacob Rose, Akos A. Gerencser, Sally K. Mak, Michelle E. Ehrlich, D. Cristopher Bragg, Birgit Schilling & Lisa M. Ellerby. (2023) Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing. Neurobiology of Disease, pages 106367.
Crossref
Crossref
Peter James Abad, Ma‐Am Joy Tumulak, Romer Guerbo, Leniza de Castro‐Hamoy, Niecy Grace Bautista, Ramonito Nuique, Frances Isabelle Jacalan, Gay Luz Talapian, Eva Belingon Felipe‐Dimog, John Benedict Lagarde, Starlene Joy Plaga, Edbert Jasper Jover, Kristine Dawn Morales, Graciel Mae Canoy & Mercy Y. Laurino. (2023) Landscape of genetic counseling in the Philippines. Journal of Genetic Counseling.
Crossref
Crossref
Roland Dominic G. Jamora, Kathleen Joy O. Khu, Marie Charmaine C. Sy, Juan Silvestre G. Pascual, Gerardo D. Legaspi & Jose A. Aguilar. (2023) Transcranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy for patients with X-linked dystonia-parkinsonism: a study protocol. BMC Neurology 23:1.
Crossref
Crossref
Martin Niethammer, Chris C. Tang, Roland Dominic G. Jamora, An Vo, Nha Nguyen, Yilong Ma, Shichun Peng, Jeff L. Waugh, Ana Westenberger & David Eidelberg. (2023) A Network Imaging Biomarker of X‐Linked Dystonia‐Parkinsonism. Annals of Neurology.
Crossref
Crossref
Patrick Acuna, Melanie Leigh Supnet-Wells, Neil A Spencer, Jan Kristoper de Guzman, Massimiliano Russo, Ann Hunt, Christopher Stephen, Criscely Go, Samuel Carr, Niecy Grace Ganza, John Benedict Lagarde, Shin Begalan, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Lisa Paul, Laurie Ozelius, D Cristopher Bragg, Bridget Perry, Jordan R Green, Jeffrey W Miller & Nutan Sharma. (2023) Establishing a natural history of X-linked dystonia parkinsonism. Brain Communications 5:3.
Crossref
Crossref
Björn-Hergen Laabs, Ana Westenberger & Inke R. König. (2023) Identification of representative trees in random forests based on a new tree-based distance measure. Advances in Data Analysis and Classification.
Crossref
Crossref
Christopher D. Stephen, Marisela Dy-Hollins, Claudio Melo De Gusmao, Xena Al Qahtani & Nutan Sharma. (2023) Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing. Seminars in Neurology 43:01, pages 017-034.
Crossref
Crossref
Hok Leong Chin, Chia-Yi Lin & Oscar Hou-In Chou. (2022) X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment. Acta Neurologica Belgica 123:1, pages 45-55.
Crossref
Crossref
Sungjin A. Song, Criscely L. Go, Patrick B. Acuna, Jan Kristopher Palentinos De Guzman, Nutan Sharma & Phillip C. Song. (2023) Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism. Journal of Voice 37:1, pages 134-138.
Crossref
Crossref
Christopher D. Stephen, Kristina Simonyan, Laurie Ozelius, Xandra O. Breakefield & Nutan Sharma. 2023. Neurobiology of Brain Disorders. Neurobiology of Brain Disorders
713
751
.
Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez-Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, J. Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Melanie L. Supnet, Jan K. De Guzman, Criscely Go, Nutan Sharma, Edwin L. Munoz, Mark C. Ang, Cid Czarina E. Diesta, D. Cristopher Bragg, Laurie J. Ozelius & Vanessa C. Wheeler. (2022) Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. Acta Neuropathologica Communications 10:1.
Crossref
Crossref
Almira Doreen Abigail O. Apor & Roland Dominic G. Jamora. (2022) Research Productivity among Filipino Neurologists Associated with Socioeconomic, Healthcare, and Disease Burden Factors: A Bibliometric Analysis. International Journal of Environmental Research and Public Health 19:23, pages 15630.
Crossref
Crossref
Jelena Pozojevic, Björn-Hergen von Holt & Ana Westenberger. (2022) Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism. Medizinische Genetik 34:2, pages 97-102.
Crossref
Crossref
Laura D’Ignazio, Ricardo S. Jacomini, Bareera Qamar, Kynon J. M. Benjamin, Ria Arora, Tomoyo Sawada, Taylor A. Evans, Kenneth E. Diffenderfer, Aimee R. Pankonin, William T. Hendriks, Thomas M. Hyde, Joel E. Kleinman, Daniel R. Weinberger, D. Cristopher Bragg, Apua C. M. Paquola & Jennifer A. Erwin. (2022) Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X-Linked Dystonia Parkinsonism. eneuro 9:4, pages ENEURO.0129-22.2022.
Crossref
Crossref
Qian Zeng, Hongxu Pan, Yuwen Zhao, Yige Wang, Qian Xu, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Beisha Tang & Jifeng Guo. (2022) Association Study of TAF1 Variants in Parkinson’s Disease. Frontiers in Neuroscience 16.
Crossref
Crossref
Jelena Pozojevic, Shela Marie Algodon, Joseph Neos Cruz, Joanne Trinh, Norbert Brüggemann, Joshua Laß, Karen Grütz, Susen Schaake, Ronnie Tse, Veronica Yumiceba, Nathalie Kruse, Kristin Schulz, Varun K. A. Sreenivasan, Raymond L. Rosales, Roland Dominic G. Jamora, Cid Czarina E. Diesta, Jakob Matschke, Markus Glatzel, Philip Seibler, Kristian Händler, Aleksandar Rakovic, Henriette Kirchner, Malte Spielmann, Frank J. Kaiser, Christine Klein & Ana Westenberger. (2022) Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon. International Journal of Molecular Sciences 23:4, pages 2231.
Crossref
Crossref
Jelena Pozojevic, Joseph Neos Cruz & Ana Westenberger. (2022) X-linked dystonia-parkinsonism: over and above a repeat disorder. Medizinische Genetik 33:4, pages 319-324.
Crossref
Crossref
Lazzaro di Biase, Alessandro Di Santo, Maria Letizia Caminiti, Pasquale Maria Pecoraro & Vincenzo Di Lazzaro. (2022) Classification of Dystonia. Life 12:2, pages 206.
Crossref
Crossref
Aljeirou Alcachupas, Krisverlyn Bellosillo, Wynlee Rhm Catolico, Mark Cullen Davis, Alyssa Diaz, Yvette Karla Doyongan, Reczy Eduarte, Emerald Gersava, Mary Bernadette Intrepido, Maugri Grace Kristi Laluma, Candra Carmelli Lavalle & Jeffrey Jr Millan. (2022) Biopsychosocial Aspect of Patients With X-Linked Dystonia-Parkinsonism: Its Implications on Quality of Life. Cureus.
Crossref
Crossref
Giulietta M. Riboldi, Emanuele Frattini, Edoardo Monfrini, Steven J. Frucht & Alessio Di Fonzo. (2022) A Practical Approach to Early-Onset Parkinsonism. Journal of Parkinson's Disease 12:1, pages 1-26.
Crossref
Crossref
Gennarina Arabia, Antonio De Martino & Elena Moro. 2022. Sex and Gender Differences in Neurological Disease. Sex and Gender Differences in Neurological Disease
101
128
.
Charles Jourdan Reyes, Theresa Lüth & Joanne Trinh. 2022. Genomic Structural Variants in Nervous System Disorders. Genomic Structural Variants in Nervous System Disorders
139
153
.
Maria‐Daniela Cirnaru, Jordi Creus‐Muncunill, Shareen Nelson, Travis B. Lewis, Jaime Watson, Lisa M. Ellerby, Pedro Gonzalez‐Alegre & Michelle E. Ehrlich. (2021)
Striatal Cholinergic Dysregulation after Neonatal Decrease in X‐Linked Dystonia Parkinsonism‐Related
TAF1
Isoforms
. Movement Disorders 36:12, pages 2780-2794.
Crossref
Crossref
Simona Capponi, Nadja Stöffler, Ellen B Penney, Karen Grütz, Sheikh Nizamuddin, Marit W Vermunt, Bas Castelijns, Cara Fernandez-Cerado, G Paul Legarda, M Salvie Velasco-Andrada, Edwin L Muñoz, Mark A Ang, Cid Czarina E Diesta, Menno P Creyghton, Christine Klein, D Cristopher Bragg, Peter De Rijk & H T Marc Timmers. (2021)
Dissection of
TAF1
neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism
. Brain Communications 3:4.
Crossref
Crossref
Charles Jourdan ReyesBjörn-Hergen LaabsSusen SchaakeTheresa LüthRaphaela ArdicogluAleksandar RakovicKaren GrützDaniel Alvarez-FischerRoland Dominic JamoraRaymond L. RosalesImke WeyersInke R. König, Norbert BrüggemannChristine KleinValerija DobricicAna Westenberger & Joanne Trinh. (2021) Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing. Neurology Genetics 7:4.
Crossref
Crossref
Ana Luiza Zaninotto, Jan K. de Guzman, Kaila L. Stipancic, Bridget J. Perry, Melanie L. Supnet, Criscely Go, Nutan Sharma & Jordan R. Green. (2021) Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism. Parkinsonism & Related Disorders 89, pages 105-110.
Crossref
Crossref
Giulia Di Lazzaro, Francesca Magrinelli, Carlos Estevez‐Fraga, Enza M. Valente, Antonio Pisani & Kailash P. Bhatia. (2021) X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity. Movement Disorders 36:7, pages 1511-1525.
Crossref
Crossref
Roland Dominic G. Jamora, Cezar Thomas R. Suratos, Jesi Ellen C. Bautista, Gail Melissa I. Ramiro, Ana Westenberger, Christine Klein & Lourdes K. Ledesma. (2021) Neurocognitive profile of patients with X-linked dystonia-parkinsonism. Journal of Neural Transmission 128:5, pages 671-678.
Crossref
Crossref
Roland Dominic G. Jamora, Wei-Chieh Chang & Takaomi Taira. (2021) Transcranial Magnetic Resonance-Guided Focused Ultrasound in X-Linked Dystonia-Parkinsonism. Life 11:5, pages 392.
Crossref
Crossref
Arlene R. Ng, Roland Dominic G. Jamora & Raymond L. Rosales. (2021) X-linked dystonia Parkinsonism: crossing a new threshold. Journal of Neural Transmission 128:4, pages 567-573.
Crossref
Crossref
Richelle Ann S. Santiano & Raymond L. Rosales. (2021) A Cross-Cultural Validation of the Filipino and Hiligaynon Versions of the Parts IIIB (Non-Motor Features) and IV (Activities of Daily Living) of the X-Linked Dystonia-Parkinsonism– MDSP Rating Scale. Clinical Parkinsonism & Related Disorders 5, pages 100100.
Crossref
Crossref
Christine J. Arasaratnam, Malvindar K. Singh-Bains, Henry J. Waldvogel & Richard L.M. Faull. (2021) Neuroimaging and neuropathology studies of X-linked dystonia parkinsonism. Neurobiology of Disease 148, pages 105186.
Crossref
Crossref
Aleksandar Rakovic, Anne Weissbach, Philip Seibler & Christine Klein. 2021. iPSCs for Modeling Central Nervous System Disorders. iPSCs for Modeling Central Nervous System Disorders
239
250
.
Jamal Al Ali, Christine A. Vaine, Shivangi Shah, Lindsey Campion, Ahmad Hakoum, Melanie L. Supnet, Patrick Acuña, Gabrielle Aldykiewicz, Trisha Multhaupt‐Buell, Niecy G.M. Ganza, John B.B. Lagarde, Jan K. De Guzman, Criscely Go, Benjamin Currall, Bianca Trombetta, Pia K. Webb, Michael Talkowski, Steven E. Arnold, Pike S. Cheah, Naoto Ito, Nutan Sharma, D. Cristopher Bragg, Laurie Ozelius & Xandra O. Breakefield. (2020)
TAF1
Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism
. Movement Disorders 36:1, pages 206-215.
Crossref
Crossref
Tiziana Petrozziello, Amanda M. Dios, Kaly A. Mueller, Christine A. Vaine, William T. Hendriks, Kelly E. Glajch, Alexandra N. Mills, Kotchaphorn Mangkalaphiban, Ellen B. Penney, Naoto Ito, Cara Fernandez-Cerado, Gierold Paul A. Legarda, M. Salvie Velasco-Andrada, Patrick J. Acuña, Mark A. Ang, Edwin L. Muñoz, Cid Czarina E. Diesta, Regina Macalintal-Canlas, Geraldine Acuña, Nutan Sharma, Laurie J. Ozelius, D. Cristopher Bragg & Ghazaleh Sadri-Vakili. (2020) SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene. PLOS ONE 15:12, pages e0243655.
Crossref
Crossref
Christin Krause, Susen Schaake, Karen Grütz, Helen Sievert, Charles Jourdan Reyes, Inke R. König, Björn‐Hergen Laabs, Roland Dominic Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Jelena Pozojevic, Timo Gemoll, Ana Westenberger, Frank J. Kaiser, Christine Klein & Henriette Kirchner. (2020)
DNA
Methylation as a Potential Molecular Mechanism in X‐linked Dystonia‐Parkinsonism
. Movement Disorders 35:12, pages 2220-2229.
Crossref
Crossref
Martje G. Pauly, Marta Ruiz López, Ana Westenberger, Gerard Saranza, Norbert Brüggemann, Anne Weissbach, Raymond L. Rosales, Cid C. Diesta, Roland D.G. Jamora, Charles J. Reyes, Harutyun Madoev, Sonja Petkovic, Laurie J. Ozelius, Christine Klein & Aloysius Domingo. (2020)
Expanding Data Collection for the
MDSGene
Database: X‐linked Dystonia‐Parkinsonism as Use Case Example
. Movement Disorders 35:11, pages 1933-1938.
Crossref
Crossref
Christopher D. Stephen, Criscely L. Go, Patrick Acuna & Nutan Sharma. (2020)
Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in
X‐Linked
Dystonia Parkinsonism
. Movement Disorders Clinical Practice 7:4, pages 448-452.
Crossref
Crossref
Sara Meoni, Antonella Macerollo & Elena Moro. (2020) Sex differences in movement disorders. Nature Reviews Neurology 16:2, pages 84-96.
Crossref
Crossref
Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Stefan G. Piatek, Helena Ahlfors, Robert Kleyner, Alan Rope, Aimé Lumaka, Prosper Lukusa, Koenraad Devriendt, Joris Vermeesch, Jennifer E. Posey, Elizabeth E. Palmer, Lucinda Murray, Eyby Leon, Jullianne Diaz, Lisa Worgan, Amali Mallawaarachchi, Julie Vogt, Sonja A. Munnik, Lauren Dreyer, Gareth Baynam, Lisa Ewans, Zornitza Stark, Sebastian Lunke, Ana R. Gonçalves, Gabriela Soares, Jorge Oliveira, Emily Fassi, Marcia Willing, Jeff L. Waugh, Laurence Faivre, Jean‐Baptiste Riviere, Sebastien Moutton, Shehla Mohammed, Katelyn Payne, Laurence Walsh, Amber Begtrup, Maria J. Guillen Sacoto, Ganka Douglas, Nora Alexander, Michael F. Buckley, Paul R. Mark, Lesley C. Adès, Sarah A. Sandaradura, James R. Lupski, Tony Roscioli, Pankaj B. Agrawal, Antonie D. Kline, Kai Wang, H. T. Marc Timmers & Gholson J. Lyon. (2019)
Missense variants in
TAF1
and developmental phenotypes: Challenges of determining pathogenicity
. Human Mutation 41:2, pages 449-464.
Crossref
Crossref
Katja Lohmann & Christine Klein. 2020. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
117
134
.
Phillip C. Song, Hoai LePatrick Acuna, Jan Kristopher Palentinos De GuzmanNutan SharmaTaylor N. FrancouerMarisela E. DyCriscely L. Go. (2019) Voice and swallowing dysfunction in X‐linked dystonia parkinsonism. The Laryngoscope 130:1, pages 171-177.
Crossref
Crossref
Nicole B. Aliling, Adovich S. Rivera & Roland Dominic G. Jamora. (2019) Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP). Frontiers in Neurology 10.
Crossref
Crossref
Nicki Niemann & Joseph Jankovic. (2019) Juvenile parkinsonism: Differential diagnosis, genetics, and treatment. Parkinsonism & Related Disorders 67, pages 74-89.
Crossref
Crossref
D. Cristopher Bragg, Nutan Sharma & Laurie J. Ozelius. (2019) X-Linked Dystonia-Parkinsonism: recent advances. Current Opinion in Neurology 32:4, pages 604-609.
Crossref
Crossref
Ana Westenberger, Charles Jourdan Reyes, Gerard Saranza, Valerija Dobricic, Henrike Hanssen, Aloysius Domingo, Björn‐Hergen Laabs, Susen Schaake, Jelena Pozojevic, Aleksandar Rakovic, Karen Grütz, Kimberly Begemann, Uwe Walter, Dirk Dressler, Peter Bauer, Arndt Rolfs, Alexander Münchau, Frank J. Kaiser, Laurie J. Ozelius, Roland Dominic Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Katja Lohmann, Inke R. König, Norbert Brüggemann & Christine Klein. (2019) A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism. Annals of Neurology 85:6, pages 812-822.
Crossref
Crossref
Ranhel C. De Roxas & Roland Dominic G. Jamora. (2019) Cost-Analysis of the Different Treatment Modalities in X-Linked Dystonia–Parkinsonism. Frontiers in Neurology 10.
Crossref
Crossref
Ming-Che Kuo, Han-I Lin & Chin-Hsien Lin. (2019) Craniocervical dystonia with levodopa-responsive parkinsonism co-segregating with a pathogenic ANO3 mutation in a Taiwanese family. Parkinsonism & Related Disorders 62, pages 236-238.
Crossref
Crossref
Joshua Emmanuel E. Abejero, Roland Dominic G. Jamora, Theodor S. Vesagas, Rosalia A. Teleg, Raymond L. Rosales, Joseph P. Anlacan, Monserrat S. Velasquez & Jose A. Aguilar. (2019) Long-term outcomes of pallidal deep brain stimulation in X-linked dystonia parkinsonism (XDP): Up to 84 months follow-up and review of literature. Parkinsonism & Related Disorders 60, pages 81-86.
Crossref
Crossref
Norbert Brüggemann, Aloysius Domingo, Dirk Rasche, Christian K. E. Moll, Raymond L. Rosales, Roland Dominic G. Jamora, Henrike Hanssen, Alexander Münchau, Julia Graf, Anne Weissbach, Vera Tadic, Cid C. Diesta, Jens Volkmann, Andrea Kühn, Thomas F. Münte, Volker Tronnier & Christine Klein. (2019) Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurology 76:2, pages 211.
Crossref
Crossref
Alessio Di Fonzo, Giulia Franco, Paolo Barone & Roberto Erro. 2019. Parkinsonism Beyond Parkinson's Disease. Parkinsonism Beyond Parkinson's Disease
307
326
.
Patrick R. Ching, Edward Ryan A. Collantes, Michelle D. Lingao, Patricia E. Cabrera & Leo D. P. Cubillan. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II
85
92
.
Jose Danilo B. Diestro, Mark Angelo C. Ang, Mark Willy L. Mondia & Paul Matthew D. Pasco. (2018) Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics. Frontiers in Neurology 9.
Crossref
Crossref
Henrike Hanssen, Marcus Heldmann, Jannik Prasuhn, Volker Tronnier, Dirk Rasche, Cid C Diesta, Aloysius Domingo, Raymond L Rosales, Roland D Jamora, Christine Klein, Thomas F Münte & Norbert Brüggemann. (2018) Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. Brain 141:10, pages 2995-3008.
Crossref
Crossref
P. Capetian, N. Stanslowsky, E. Bernhardi, K. Grütz, A. Domingo, N. Brüggemann, M. Naujock, P. Seibler, C. Klein & F. Wegner. (2018) Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients. Experimental Neurology 308, pages 47-58.
Crossref
Crossref
Christian Beste, Moritz Mückschel, Raymond Rosales, Aloysius Domingo, Lillian Lee, Arlene Ng, Christine Klein & Alexander Münchau. (2018) The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information—Evidence from X-Linked Dystonia Parkinsonism. Cerebral Cortex 28:7, pages 2243-2252.
Crossref
Crossref
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. (2018) Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172:5, pages 897-909.e21.
Crossref
Crossref
Camilla Kilbane, Jennifer Witt, Nicholas B. Galifianakis, Graham A. Glass, Monica Volz, Susan Heath, Philip A. Starr & Jill Louise Ostrem. (2018) Long-Term Outcomes of Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia and Parkinsonism. Stereotactic and Functional Neurosurgery 96:5, pages 320-326.
Crossref
Crossref
Anne J. Blood, Jeff L. Waugh, Thomas F. Münte, Marcus Heldmann, Aloysius Domingo, Christine Klein, Hans C. Breiter, Lillian V. Lee, Raymond L. Rosales & Norbert Brüggemann. (2018) Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. NeuroImage: Clinical 17, pages 835-846.
Crossref
Crossref
Michele Matarazzo, Daryl Wile, Melissa Mackenzie & A. Jon Stoessl. 2018. Imaging in Movement Disorders: Imaging in Atypical Parkinsonism and Familial Movement Disorders. Imaging in Movement Disorders: Imaging in Atypical Parkinsonism and Familial Movement Disorders
177
223
.
D. Cristopher BraggKotchaphorn MangkalaphibanChristine A. VaineNichita J. KulkarniDavid ShinRachita YadavJyotsna DhakalMai-Linh TonAnne ChengChristopher T. RussoMark AngPatrick AcuñaCriscely GoTaylor N. FrancoeurTrisha Multhaupt-BuellNaoto ItoUlrich MüllerWilliam T. HendriksXandra O. Breakefield, Nutan SharmaLaurie J. Ozelius. (2017)
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in
TAF1
. Proceedings of the National Academy of Sciences 114:51.
Crossref
Crossref
Roland Dominic G. Jamora, Leah L. Shiong Shu, Alvin Rae F. Cenina, Carissa Paz C. Dioquino & Patricia Ann D. Canto. (2017) Parkinsonism among retired Filipino boxers. Basal Ganglia 10, pages 1-3.
Crossref
Crossref
Christian Beste, Moritz Mückschel, Raymond Rosales, Aloysius Domingo, Lillian Lee, Arlene Ng, Christine Klein & Alexander Münchau. (2017) Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding. Brain Structure and Function 222:8, pages 3807-3817.
Crossref
Crossref
Danica Jane S.J Robles, Ron Christian Neil T Rodriguez, Nadia Beatrice S Romana, Joseph Mariuz B Rosales, Mary Camille E Rosales, Gerardo B Salazar & Raymond L Rosales. (2017) Prevalence and Predisposing Factors of Parkinson Disease: A Community-Based Study In Barangay Mangilag Sur, Candelaria, Quezon: A Research Protocol. Journal of Medicine, University of Santo Tomas 1:1, pages 109-119.
Crossref
Crossref
Roland Dominic G Jamora & Janis M Miyasaki. (2017) Treatment gaps in Parkinson’s disease care in the Philippines. Neurodegenerative Disease Management 7:4, pages 245-251.
Crossref
Crossref
Paul Matthew D. Pasco, Roland Dominic G. Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Arlene R. Ng, Rosalia A. Teleg, Criscely L. Go, Lillian Lee & Hubert H. Fernandez. (2017) Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism. npj Parkinson's Disease 3:1.
Crossref
Crossref
Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji & Satoshi Goto. (2017) Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag). Brain Sciences 7:12, pages 72.
Crossref
Crossref
Jose Danilo B Diestro, Paul Matthew D Pasco & Lillian V Lee. (2017) Validation of a screening questionnaire for X‐linked dystonia parkinsonism: The first phase of the population‐based prevalence study of X‐linked dystonia parkinsonism in Panay. Neurology and Clinical Neuroscience 5:3, pages 79-85.
Crossref
Crossref
N. Brüggemann, R. L. Rosales, J. L. Waugh, A. J. Blood, A. Domingo, M. Heldmann, R. D. Jamora, A. Münchau, T. F. Münte, L. V. Lee, I. Buchmann & C. Klein. (2017) Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression. European Journal of Neurology 24:5, pages 680-686.
Crossref
Crossref
Uwe Walter, Raymond Rosales, Alessandro Rocco, Ana Westenberger, Aloysius Domingo, Criscely L. Go, Norbert Brüggemann, Christine Klein, Lillian V. Lee & Dirk Dressler. (2017) Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. Parkinsonism & Related Disorders 37, pages 43-49.
Crossref
Crossref
Christine A. Vaine, David Shin, Christina Liu, William T. Hendriks, Jyotsna Dhakal, Kyle Shin, Nutan Sharma & D. Cristopher Bragg. (2017) X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B. Neurobiology of Disease 100, pages 108-118.
Crossref
Crossref
Christian Beste, Moritz Mückschel, Raymond Rosales, Aloysius Domingo, Lillian Lee, Arlene Ng, Christine Klein & Alexander Münchau. (2017) Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. Movement Disorders 32:4, pages 576-584.
Crossref
Crossref
Julie Ann Kristy L. Torres & Raymond L. Rosales. 2017. Nonmotor Parkinson’s: The Hidden Face - Management and the Hidden Face of Related Disorders. Nonmotor Parkinson’s: The Hidden Face - Management and the Hidden Face of Related Disorders
1335
1371
.
Aloysius Domingo & Christine Klein. 2017. Movement Disorders Curricula. Movement Disorders Curricula
77
92
.
Nicholas D. Child & Bryan T. Klassen. 2016. Deep Brain Stimulation. Deep Brain Stimulation
139
162
.
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. (2016) Decreased N-TAF1 expression in X-Linked Dystonia-Parkinsonism patient-specific neural stem cells. Disease Models & Mechanisms.
Crossref
Crossref
Johanna Melissa Penamora-Destriza, Aloysius Domingo, Thomas G.P.M. Schmidt, Ana Westenberger, Christine Klein & Raymond Rosales. (2015) First Report of a Filipino with Mohr-Tranebjaerg Syndrome. Movement Disorders Clinical Practice 2:4, pages 417-419.
Crossref
Crossref
Aloysius Domingo, Ana Westenberger, Lillian V Lee, Ingrid Brænne, Tian Liu, Inga Vater, Raymond Rosales, Roland Dominic Jamora, Paul Matthew Pasco, Eva Maria Cutiongco-dela Paz, Karen Freimann, Thomas GPM Schmidt, Dirk Dressler, Frank J Kaiser, Lars Bertram, Jeanette Erdmann, Katja Lohmann & Christine Klein. (2015) New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). European Journal of Human Genetics 23:10, pages 1334-1340.
Crossref
Crossref
V.M. Tronnier, A. Domingo, C.K. Moll, D. Rasche, C. Mohr, R. Rosales, P. Capetian, R.D. Jamora, L.V. Lee, A. Münchau, C.C. Diesta, V. Tadic, C. Klein, N. Brüggemann & A. Moser. (2015) Biochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism. Parkinsonism & Related Disorders 21:8, pages 954-959.
Crossref
Crossref
Katja Lohmann & Christine Klein. 2015. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
849
860
.
Susanne A. Schneider. 2015. Movement Disorders. Movement Disorders
877
886
.
Ana Westenberger & Christine Klein. 2015. Dystonia and Dystonic Syndromes. Dystonia and Dystonic Syndromes
27
48
.
Susanne A. Schneider & Kailash P. Bhatia. 2015. Movement Disorder Genetics. Movement Disorder Genetics
125
146
.
Maria Stamelou & Kailash P. Bhatia. 2015. Movement Disorder Genetics. Movement Disorder Genetics
35
64
.
Alfonso Fasano & Francesca MorganteToshitaka KawaraiRyuji Kaji. 2014. Dystonia: A Clinician‘s Guide to Diagnosis, Pathophysiology & Treatment. Dystonia: A Clinician‘s Guide to Diagnosis, Pathophysiology & Treatment
48
62
.
Akash J. Patel, Aliya I. Sarwar, Joseph Jankovic & Ashwin Viswanathan. (2014) Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia-Parkinsonism. World Neurosurgery 82:1-2, pages 241.e1-241.e4.
Crossref
Crossref
Roland Dominic G Jamora, Lourdes K Ledesma, Aloysius Domingo, Alvin Rae F Cenina & Lillian V Lee. (2014) Nonmotor features in sex-linked dystonia parkinsonism. Neurodegenerative Disease Management 4:3, pages 283-289.
Crossref
Crossref
Christine Klein. (2014) Genetics in dystonia. Parkinsonism & Related Disorders 20, pages S137-S142.
Crossref
Crossref
Ryoma Morigaki, Masahito Nakataki, Toshitaka Kawarai, Lillian V. Lee, Rosalia A. Teleg, Ma. Daisy P. Tabuena, Hideo Mure, Wataru Sako, Paul Matthew D. Pasco, Shinji Nagahiro, Junichi Iga, Tetsuro Ohmori, Satoshi Goto & Ryuji Kaji. (2013) Depression in X-linked dystonia-parkinsonism: A case–control study. Parkinsonism & Related Disorders 19:9, pages 844-846.
Crossref
Crossref
Katja Lohmann & Christine Klein. (2013) Genetics of dystonia: What's known? What's new? What's next?. Movement Disorders 28:7, pages 899-905.
Crossref
Crossref
Diane Whitmer, Camille de Solages, Bruce C. Hill, Hong Yu & Helen Bronte-Stewart. (2013) Resting Beta Hypersynchrony in Secondary Dystonia and Its Suppression During Pallidal Deep Brain Stimulation in DYT3+ Lubag Dystonia. Neuromodulation: Technology at the Neural Interface 16:3, pages 200-205.
Crossref
Crossref
Paolo Calabresi & Massimiliano Di Filippo. (2013) A pathophysiological link between dystonia, striatal interneurons and neuropeptide Y. Brain 136:5, pages 1341-1344.
Crossref
Crossref
Toshitaka Kawarai, Paul Matthew D. Pasco, Rosalia A. Teleg, Masaki Kamada, Waka Sakai, Komei Shimozono, Makoto Mizuguchi, Daisy Tabuena, Antonio Orlacchio, Yuishin Izumi, Satoshi Goto, Lillian V. Lee & Ryuji Kaji. (2013) Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia–parkinsonism. neurogenetics 14:2, pages 167-169.
Crossref
Crossref
Ana Westenberger, Raymond L. Rosales, Sascha Heinitz, Karen Freimann, Lilian V. Lee, Roland D. Jamora, Arlene R. Ng, Aloysius Domingo, Katja Lohmann, Uwe Walter, Uta Gölnitz, Arndt Rolfs, Inga Nagel, Gabriele Gillessen‐Kaesbach, Reiner Siebert, Dirk Dressler & Christine Klein. (2013) X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome. Movement Disorders 28:5, pages 675-678.
Crossref
Crossref
Andrew B. West, Michelle Gray & David G. Standaert. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics
1
39
.
Christine Klein & Laurie J. Ozelius. 2012. Handbook of Dystonia. Handbook of Dystonia
22
52
.
Erle C.H. Lim, Roongroj Bhidayasiri, Raymond L. Rosales & Ryuji Kaji. (2011) Introduction. Parkinsonism & Related Disorders 17, pages S1-S2.
Crossref
Crossref
Laurie J. Ozelius, Naomi Lubarr & Susan B. Bressman. (2011) Milestones in dystonia. Movement Disorders 26:6, pages 1106-1126.
Crossref
Crossref
Raymond L. Rosales. (2010) X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics. Journal of Movement Disorders 3:2, pages 32-38.
Crossref
Crossref