Results 71 to 80 of about 7,623,875 (163)

Optimizing Genetic Analyses for Movement Disorders: A Unified Panel Approach and Targeted Reanalysis of 4,046 Clinical Exomes

Movement Disorders, EarlyView.
Abstract Background Molecular testing for genetic movement disorders (MDs) increasingly relies on exome‐ or genome‐based virtual gene panels. In the absence of consensus guidelines, MD panel design remains heterogeneous across laboratories, with international variation in panel configuration and gene content.
Teodora Barbarii, Sanne P. Smeekens, Maartje Pennings, Galuh Astuti, Lisenka E.L.M. Vissers, Helger G. Yntema, Christian Gilissen, Bart van de Warrenburg, Erik‐Jan Kamsteeg   +8 more
wiley   +1 more source

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3) [PDF]

European Journal of Human Genetics, 2015
X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic alterations within a 427-kb disease locus on the X chromosome; however, the exact disease-causing variant among these is still not unequivocally determined.
Domingo, A., Westenberger, A., Lee, L., Braenne, I., Liu, T., Vater, I., Rosales, R., Jamora, R., Pasco, P., Cutiongco-de la Paz, E., Freimann, K., Schmidt, T., Dressler, D., Kaiser, F., Bertram, L., Erdmann, J., Lohmann, K., Klein, C.   +17 more
openaire   +3 more sources

The characteristics of perivascular proinflammation in 4‐repeat tauopathies

Brain Pathology, EarlyView.
The spatial distribution of perivascular proinflammation differs between PSP and CBD: PSP shows a predominance in basal ganglia (BG), whereas CBD demonstrates more widespread involvement of both BG and superior/middle frontal gyrus (S/M‐FG). PSP exhibits profound proinflammatory activation around venules while CBD affects a comparable magnitude around ...
Mu‐Hui Fu, Gokhan Uruk, Rodolfo G. Gatto, R. Ross Reichard, Jennifer L. Whitwell, Keith A. Josephs   +5 more
wiley   +1 more source

Understanding extracellular vesicles in antiaging

Periodontology 2000, EarlyView.
Abstract Background Aging is a multifactorial process marked by gradual cellular dysregulation, regulated by hallmarks, including genomic instability, mitochondrial dysregulation, and chronic inflammation. Extracellular vesicles (EVs), especially exosomes, have emerged as pivotal mediators of cell‐to‐cell communication with potential roles in both ...
Paras Ahmad, Nathan E. Estrin, Anton Sculean, Richard J. Miron   +3 more
wiley   +1 more source

Making sense of touch: Spatial tactile cues promote efficient visuo‐somatosensory integration and restore motor accuracy under sensory conflict

The Journal of Physiology, EarlyView.
Abstract figure legend Mirror‐reversed vision introduces a spatial discrepancy between visual and somatosensory information about hand position during finger tracing. The informational context of tactile cues significantly modulated the consequences of this visuo‐somatosensory conflict.
Maria Evangelia Vlachou, Eva Lafaverges, Laurence Mouchnino, Jean Blouin   +3 more
wiley   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-Parkinsonism [PDF]

, 2007
X-linked dystonia-parkinsonism (XDP) is a movement disorder endemic to the Philippines. The disease locus, DYT3, has been mapped to Xq13.1. In a search for the causative gene, we performed genomic sequencing analysis, followed by expression analysis of ...
Tabuena, Ma. Daisy, Tomizawa, Maiko, Matsumoto, Shinnichi, Tooyama, Ikuo, Kaji, Ryuji, Ando, Satoshi, Maranon, Elma, Makino, Satoshi, Dantes, Marita, Ogasawara, Kazumasa, Goto, Satoshi, Lee, Lillian V., Nishimura, Masataka, Tamiya, Gen, Yasuno, Katsuhito, Akatsu, Hiroyasu   +15 more
core   +1 more source

Prevalence of Dystonia-Parkinsonism Gene Variants in Individuals with Parkinsonism and Normal Dopamine Transporter Imaging

, 2022
In this project, the prevalence of variants in dystonia-parkinsonism-related genes were investigated in individuals with parkinsonism and normal dopamine transporter SPECT scan.
M Abreu, LP Cook, TM Foroud, KN Nudelman, LM Chahine, JC Schulze, Yaijng Xiong   +6 more
core   +1 more source

X-Linked Dystonia-Parkinsonism [PDF]

, 2020
  +6 more sources