Results 111 to 120 of about 5,489 (166)

Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism. [PDF]

Med Genet, 2022
Pozojevic J, von Holt BH, Westenberger A.   +2 more
europepmc   +1 more source

SAK3 confers neuroprotection in the neurodegeneration model of X-linked Dystonia-Parkinsonism

Abstract Background X-linked Dystonia-Parkinsonism(XDP) is an adult-onset neurodegenerative disorder that results in the loss of striatal medium spiny neurons (MSNs). XDP is associated with disease-specific mutations in and around the TAF1 gene.
Shivani Aryal, Shawei Chen, Kyle F Burbach, Yan Yang, Lucia S Capano, Woo Kyung Kim, D. Cristopher Bragg, Andrew Yoo   +7 more
openaire   +2 more sources

Repeat-Associated Non-AUG Translation of AGAGGG Repeats that Cause X-Linked Dystonia-Parkinsonism. [PDF]

Mov Disord, 2022
Reyes CJ, Asano K, Todd PK, Klein C, Rakovic A.   +4 more
europepmc   +1 more source

The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR)

, 2010
Mental retardation (MR) is a handicap with severe implications not only for thosethat suffer from this disability, but also for their families, society and the welfaresystems which support them.
Carvill, Gemma
core  

Table_1_Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP).docx

, 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
Nicole B. Aliling (8055059), Roland Dominic G. Jamora (8055065), Adovich S. Rivera (8055062)   +2 more
core   +1 more source

Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism. [PDF]

Brain Commun, 2021
Capponi S, Stöffler N, Penney EB, Grütz K, Nizamuddin S, Vermunt MW, Castelijns B, Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Muñoz EL, Ang MA, Diesta CCE, Creyghton MP, Klein C, Bragg DC, De Rijk P, Timmers HTM.   +17 more
europepmc   +1 more source

Biopsychosocial Aspect of Patients With X-Linked Dystonia-Parkinsonism: Its Implications on Quality of Life. [PDF]

Cureus, 2022
Alcachupas A, Bellosillo K, Catolico WR, Davis MC, Diaz A, Doyongan YK, Eduarte R, Gersava E, Intrepido MB, Laluma MGK, Lavalle CC, Millan JJ.   +11 more
europepmc   +1 more source

Patterns and biomarkers of X-linked dystonia parkinsonism disease progression

2024X-linked dystonia parkinsonism is a neurodegenerative movement disorder that originate from the island of Panay, Philippines. Though this is a relatively novel disease, efforts have been directed towards solving the etiology, which currently points ...
Joy, Keziah
core  

Linking Huntington's Disease and X‐linked Dystonia Parkinsonism on the Molecular Level [PDF]

Movement Disorders, 2020
Sokhna Haissatou Diaw, Katja Lohmann
openaire   +2 more sources

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism. [PDF]

Mov Disord, 2021
Al Ali J, Vaine CA, Shah S, Campion L, Hakoum A, Supnet ML, Acuña P, Aldykiewicz G, Multhaupt-Buell T, Ganza NGM, Lagarde JBB, De Guzman JK, Go C, Currall B, Trombetta B, Webb PK, Talkowski M, Arnold SE, Cheah PS, Ito N, Sharma N, Bragg DC, Ozelius L, Breakefield XO.   +23 more
europepmc   +1 more source