Results 111 to 120 of about 3,520 (162)

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  

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

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

Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing. [PDF]

Neurol Genet, 2021
Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J.   +16 more
europepmc   +1 more source

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. [PDF]

eNeuro, 2022
D'Ignazio L, Jacomini RS, Qamar B, Benjamin KJM, Arora R, Sawada T, Evans TA, Diffenderfer KE, Pankonin AR, Hendriks WT, Hyde TM, Kleinman JE, Weinberger DR, Bragg DC, Paquola ACM, Erwin JA.   +15 more
europepmc   +1 more source

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

Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons. [PDF]

Stem Cell Reports
Grütz K, Künstner A, Krause C, Santinelli L, Franzenburg S, Ghelfi J, Grünewald A, Rosales RL, Brüggemann N, Busch H, Klein C, Seibler P.   +11 more
europepmc   +1 more source

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism. [PDF]

Am J Hum Genet
Mejia Maza A, Hincher M, Correia K, Gillis T, Nishiyama A, Penney EB, Domingo A, Yadav R, Murcar MG, Villafria Mercado PD, Han JS, Norenberg EP, Fernandez-Cerado C, Legarda GP, Sy M, Muñoz EL, Ang MC, Diesta CCE, Go C, Sharma N, Bragg DC, Talkowski ME, MacDonald ME, Lee JM, Ozelius LJ, Wheeler VC.   +25 more
europepmc   +1 more source