Results 1 to 10 of about 3,980 (196)

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   +3 more sources

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

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

A Coumarin-Based Probe for Sequential ON–OFF–ON Detection of Cu²⁺ and Biothiols: Naked-Eye Detection, Smartphone RGB Readout and In Vivo Imaging [PDF]

Biosensors
Copper ions (Cu2+) and intracellular biothiols are tightly coupled in cellular redox regulation, where copper–thiol coordination governs oxidative stress and metal homeostasis.
Mingjie Wei, Linxin Zheng, Weilong Tian, Xingfeng Wang, Rong Liu, Lijuan Chen, Li Niu   +6 more
doaj   +2 more sources

The Clinical, Genetic, Psychosocial, and Care Landscape of X-Linked Dystonia-Parkinsonism in Filipino Men: A Scoping Review [PDF]

American Journal of Men's Health
Background X-linked dystonia-parkinsonism (XDP) is a hereditary movement disorder predominantly affecting Filipino males from Panay Island ancestry.
Mary Dioise Ramos PhD, RN, CNE, FAAN, Jennifer Manning DNS, ACNS-BC, CNE, FCNS, Jolie Harris DNS, RN, CAS, Marie Adorno PhD, APRN, CNS, RNC-MNN, CNE, Rowan Marye MLIS, BFA, Lorraine Evangelista PhD, RN, FAHA, FAAN   +5 more
doaj   +2 more sources

Mosaic divergent repeat interruptions of motif length and sequence, mDRILS, of XDP-linked repeats affect formation of DNA/RNA triplexes & quadruplexes. [PDF]

PLoS ONE
An inserted SINE-VNTR-Alu(AGAGGG)n repeat into the TAF1 gene is the cause of X-linked dystonia-parkinsonism. Mosaic divergent repeat interruptions affecting both motif length and sequence (mDRILS) of the canonical repeat (AGAGGG)n arise and can diminish ...
Niousha Sharifi Soltani, Bita Zamiri, Amirreza Shafieeha, Ali Akbar Moosavi-Movahedi, Joshua Laß, Christine Klein, Ana Westenberger, Joanne Trinh, Sebastian Hönes, Christopher E Pearson   +9 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

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
Roland Dominic Jamora, Adovich Rivera, Nicole B Aliling   +2 more
exaly   +3 more sources

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data [PDF]

Scientific Reports
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment.
Federico Parisi, Giulia Corniani, Paolo Bonato, David Balkwill, Patrick Acuna, Criscely Go, Nutan Sharma, Christopher D. Stephen   +7 more
doaj   +2 more sources