Results 71 to 80 of about 7,564,623 (164)

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

Validation of a screening questionnaire for X‐linked dystonia parkinsonism: The first phase of the population‐based prevalence study of X‐linked dystonia parkinsonism in Panay [PDF]

Neurology and Clinical Neuroscience, 2017
AbstractBackgroundThe current prevalence of X‐linked dystonia parkinsonism is not known. No screening tool for the condition exists. By developing a screening questionnaire, the present study is intended to be the first step in identifying the prevalence of the disease.AimTo develop and validate a simple, easy to use, community‐based, screening ...
Jose Danilo B Diestro, Paul Matthew D Pasco, Lillian V Lee   +2 more
openaire   +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

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

Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-dystonia [PDF]

, 2016
Parkinsonism-dystonia is rare in carriers of PRNP P102L mutation. Severity and distribution of prion protein (PrP) deposition may influence the clinical presentation. We present such clinic-pathological correlation in a 56-year-old male with a PRNP P102L
Mari, Zoltan, Greenberg, Michael K., Cohen, Yvonne, Kalakoti, Piyush, Ghetti, Bernardino, Notari, Silvio, Gambetti, Pierluigi, Umeh, Chizoba C., Oblak, Adrian L.   +8 more
core   +1 more source

X-Linked Dystonia-Parkinsonism [PDF]

, 2020
  +6 more sources

Variability of motor imagery in children with cerebral palsy examined using the Hand Laterality Test

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1570-1579, November 2026.
Variability of motor imagery performance in children with cerebral palsy. This original article is commented by Souto on pages 1494–1495 of this issue. Abstract Aim To examine motor imagery performance in children with cerebral palsy (CP) compared to typically developing children and develop a composite motor imagery score to differentiate between the ...
Inbar Breuer Asher, Dafna Guttman, Pavel Goldstein, Tal Krasovsky   +3 more
wiley   +1 more source