Results 91 to 100 of about 7,623,875 (163)

The prevalence of PRKRA mutations in idiopathic dystonia

, 2018
Introduction: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts.
Ferraz, Henrique Ballalai [UNIFESP], Silva-Junior, Francisco Pereira da, Puga, Renato David, João Carlos Papaterra Limongi, Henrique Ballalai Ferraz, Silva, Sonia Maria Cesar Azevedo [UNIFESP], Maria Sheila Guimarães Rocha, Aguiar, Patricia de Carvalho [UNIFESP], Egberto Reis Barbosa, Borges, Vanderci [UNIFESP], Barbosa, Egberto Reis, Rocha, Maria Sheila Guimaraes, Sonia Maria Cesar Azevedo Silva, Limongi, Joao Carlos Papaterra, Camila Oliveira dos Santos, Renato David Puga, Francisco Pereira da Silva-Júnior, Patricia de Carvalho Aguiar, Vanderci Borges, Santos, Camila Oliveira dos   +19 more
core   +1 more source

Research productivity of the Department of Neurosciences of the University of the Philippines Manila: a bibliometric analysis

Cogent Education
Research output is widely recognized as a key indicator of productivity and a measure of the status of a nation’s research activity. This bibliometric analysis examined the research productivity of the Department of Neurosciences at the University of the
Mykha Marie B. Tabuzo, Ena Elizabeth L. Naoe, Veeda Michelle M. Anlacan, Roland Dominic G. Jamora   +3 more
doaj   +1 more source

Retrotransposon: an insight into neurological disorders from perspectives of neurodevelopment and aging

Translational Neurodegeneration
Neurological disorders present considerable challenges in diagnosis and treatment due to their complex and diverse etiology. Retrotransposons are a type of mobile genetic element that are increasingly revealed to play a role in these diseases.
Wenchuan Zhang, Chenxuan Huang, Haiyang Yao, Shangzhi Yang, Zeyidan Jiapaer, Juan Song, Xianli Wang   +6 more
doaj   +1 more source

Myelin pathology is a key feature of X-linked Dystonia Parkinsonism

X-linked Dystonia-Parkinsonism (XDP) is a progressive, adult-onset neurodegenerative movement disorder that predominantly affects males of Filipino descent 1-3 . The disease is caused by the insertion of a SINE-VNTR-Alu subfamily F (SVA_F) retrotransposon within an intron of the TATA-box binding ...
Priya Prakash, Kerry C Limberg, Weimin Zhang, Yu Zhao, Klaudia F Laborc, Anna O’Keeffe, Bryanna C Vilnaigre, Heather Appleby, Michael R O’Dea, Cara Fernandez-Cerado, Gierold Paul A Legarda, Michelle Sy, Edwin L Muñoz, Mark Angelo C Ang, Cid Czarina E Diesta, Justin Han, Ean Norenberg, Ellen B Penney, D Cristopher Bragg, Adam C Mar, Ran Brosh, Jef D Boeke, Shane A Liddelow   +22 more
openaire   +2 more sources

Phenotypic comparison between combined dystonia-parkinsonism and idiopathic adult-onset dystonia

The clinical characteristics of dystonia occurring in association with sporadic neurodegenerative parkinsonism have not been systematically explored or compared with those of idiopathic adult-onset dystonia.
Velucci, Vittorio, Altavista, Maria Concetta, Esposito, Marcello, Zibetti, Maurizio, Squintani, Giovanna, Erro, Roberto, Fabbrini, Giovanni, Cotelli, Maria Sofia, Belvisi, Daniele, Pellicciari, Roberta, Idrissi, Sarah, Cassano, Daniela, Schirinzi, Tommaso, Castagna, Anna, Barbero, Pierangelo, Ceravolo, Roberto, Magistrelli, Luca, Muroni, Antonella, Berardelli, Alfredo, Trinchillo, Assunta, Mascia, Marcello Mario, Ferrazzano, Gina, Pisani, Antonio, Defazio, Giovanni, Terranova, Carmen, Marinelli, Lucio   +25 more
core   +1 more source

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

, 2017
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease endemic to the Philippines. We integrated genome and transcriptome assembly with induced pluripotent stem cell-based modeling to identify the XDP causal locus and potential ...
Yechiam Sapir, Caroline Antolik, Michael E. Talkowski, Naoto Ito, Ryan L. Collins, D. Cristopher Bragg, David Shin, Criscely Go, William Hendriks, Alexei Stortchevoi, Rachita Yadav, Christine A. Vaine, Benjamin Currall, Xandra O. Breakefield, Jyotsna Dhakal, David Jaffe, Brian J. Wainger, Daniel Henderson, Neil Weisenfeld, Nutan Sharma, Carrie Hanscom, Harrison Brand, Ashok Ragavendran, Marisela Dy, Laurie J. Ozelius, Tatsiana Aneichyk, Patrick Acuna, Dadi Gao   +27 more
core   +1 more source

Network mechanisms in rapid-onset dystonia-parkinsonism [PDF]

Rapid-onset dystonia-parkinsonism (RDP) is a rare neurological disorder caused by mutations in the ATP1A3 gene. Symptoms are characterized by a dystonia-parkinsonism.
van Riesen, Christoph, Nikulin, V. ; https://orcid.org/, Möller, M., Nikulin, Vadim V., Nieweler, Johanna A., van Riesen, C., Nieweler, J., Möller, Meret   +7 more
core   +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

Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism

Movement Disorders
AbstractBackgroundX‐Linked dystonia‐parkinsonism (XDP) is an adult‐onset neurodegenerative disorder characterized by rapidly progressive dystonia and parkinsonism. Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) were recently found within the TAF1 SVA repeat tract and were shown to associate with repeat stability and ...
Joshua Laß, Theresa Lüth, Kathleen Schlüter, Susen Schaake, Björn‐Hergen Laabs, Christoph Much, Roland Dominic Jamora, Raymond L. Rosales, Gerard Saranza, Cid Czarina E. Diesta, Christopher E. Pearson, Inke R. König, Norbert Brüggemann, Christine Klein, Ana Westenberger, Joanne Trinh   +15 more
openaire   +2 more sources

Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP). [PDF]

J Neurol, 2023
Mertin R, Diesta C, Brüggemann N, Rosales RL, Hanssen H, Westenberger A, Steinhardt J, Heldmann M, Manalo HTS, Oropilla JQ, Klein C, Helmchen C, Sprenger A.   +12 more
europepmc   +1 more source