Results 1 to 10 of about 3,680 (196)

Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism [PDF]

npj Parkinson's Disease
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative genetic disorder with striatal pathology. We investigated 138 participants (61 patients with XDP, 19 non-manifesting carriers (NMC), and 58 healthy controls (HC)) with transcranial sonography ...
Martje G. Pauly, Cid Czarina E. Diesta, Paulo Cataniag, Max Borsche, Henrike Hanssen, Jean Quint L. Oropilla, Uwe Walter, Dirk Dressler, Shela Marie Algodon, Ana Westenberger, Christine Klein, Norbert Brüggemann   +11 more
doaj   +2 more sources

Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4 [PDF]

Nature Communications
Transcription and mRNA processing are tightly coupled regulatory layers on gene expression, and their perturbations underly human disorders. X-linked Dystonia-Parkinsonism (XDP) is a unique example of a human disease connecting aberrant mRNA processing ...
Simona Capponi, Sandra Ehret, Zeynep Camgöz, Fabian Gather, Christine A. Vaine, Ezgi Özyerli-Göknar, Marie Follo, D. Cristopher Bragg, Tanja Vogel, H. Th. Marc Timmers   +9 more
doaj   +2 more sources

Alterations in energy production in a Drosophila model for the X-linked dystonia-parkinsonism-related Taf1 deficiency [PDF]

Frontiers in Aging Neuroscience
BackgroundX-linked dystonia-parkinsonism (XDP), an adult-onset neurodegenerative disorder, is caused by an SVA insertion in the TAF1 gene, containing a hexanucleotide, the length of which is correlated to the severity of the disease.
Frida Mandik, Shela Marie Algodon, Philip Seibler, Christine Klein, Melissa Vos   +4 more
doaj   +2 more sources

Impact of X-linked dystonia-parkinsonism on caregiver strain, anxiety and depression [PDF]

BMJ Neurology Open
Background X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder that predominantly affects men from the Panay Islands in the Philippines.
Paulo Cataniag, Jed Noel Ong, Cid Czarina Diesta   +2 more
doaj   +2 more sources

Transcranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy for patients with X-linked dystonia-parkinsonism: a study protocol [PDF]

BMC Neurology, 2023
Transcranial magnetic resonance-guided focused ultrasound (MRgFUS) is a noninvasive method for controlling tremor and has recently been used in patients with X-linked dystonia-parkinsonism (XDP).
Roland Dominic G. Jamora, Kathleen Joy O. Khu, Marie Charmaine C. Sy, Juan Silvestre G. Pascual, Gerardo D. Legaspi, Jose A. Aguilar   +5 more
doaj   +2 more sources

Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism [PDF]

Clinical Parkinsonism & Related Disorders
Introduction: Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines.
Tabitha H. Kao, Perman Gochyyev, Nutan Sharma, Jan K. de Guzman, Melanie Supnet Wells, Patrick Acuna, Shasha Li, Hannah P. Rowe, Bridget J. Perry   +8 more
doaj   +2 more sources

Clinical Outcomes with Prospective Brain Sensing Data Following Bilateral Globus Pallidus Deep Brain Stimulation in X-Linked Dystonia Parkinsonism. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 12, Issue 7, Page 1024-1027, July 2025.
Donlon E, O'Keeffe C, Horan J, Ruggieri F, Fitzpatrick J, O'Neill M, Alexander M, Fearon C, Moran C, Walsh RA.   +9 more
europepmc   +2 more sources

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing [PDF]

Neurobiology of Disease
Summary: X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32 of TATA-binding protein associated ...
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   +11 more
doaj   +2 more sources

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, 2019
Background: X-linked dystonia parkinsonism (XDP) is a neurodegenerative disease endemic to Filipinos with maternal lineage from Panay Island, Philippines. Patients present with dystonia concurrent with or followed by parkinsonism. Non-motor symptoms also
Adovich S Rivera, Roland Dominic G Jamora, Jamora Roland Dominic G   +2 more
exaly   +3 more sources

A data privacy protection method for infectious disease prediction models with balanced training speed and accuracy [PDF]

Scientific Reports
The application of deep learning technologies in constructing infectious disease prediction models has significantly enhanced public health strategies; however, the imperative for medical data privacy often prevents institutions from sharing diverse ...
Xinhang Wang, Yuncheng Jiang, Guangming Pan, Zhen Luo, Ming Xiao, Li Yang, Xiaoqiu Shi, Ying Huo, Mianyang Li, Le Zhang   +9 more
doaj   +2 more sources