Results 101 to 110 of about 3,520 (162)

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

Lingual Dyskinesia as the Presenting Feature of Acquired Demyelinating Syndrome: A Case Report and Review of Differential Diagnoses

Journal of Paediatrics and Child Health, Volume 62, Issue 6, Page 1060-1065, June 2026.
Briana Davis, Ahmed Kaki, Eppie M. Yiu, Emma Macdonald‐Laurs   +3 more
wiley   +1 more source

Electrophysiological biomarkers in genetic movement disorders

, 2008
BACKGROUND. Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of
Schneider, K.S.A.I.M
core  

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

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

Engineering of CD63 Enables Selective Extracellular Vesicle Cargo Loading and Enhanced Payload Delivery

Journal of Extracellular Vesicles
Extracellular vesicles (EVs) are mediators of intercellular communication through the transfer of nucleic acids, lipids and proteins between cells. This property makes bioengineered EVs promising therapeutic vectors.
Wataru Obuchi, Ayrton Zargani‐Piccardi, Kevin Leandro, David Rufino‐Ramos, Emilio Di Ianni, Dawn Madison Frederick, Katia Maalouf, Lisa Nieland, Tianhe Xiao, Pierre Repiton, Christine A. Vaine, Benjamin P. Kleinstiver, D. Cristopher Bragg, Hakho Lee, Miles A. Miller, Xandra O. Breakefield, Koen Breyne   +16 more
doaj   +1 more source

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

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

Data_Sheet_1_Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP).pdf

, 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

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