Search results for "SENSOR"
showing 10 items of 4594 documents
Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation
2015
Mutations in the HSJ1 ( Heat-Shock Protein J1 ) gene, also called DNAJB2 (DnaJ (Hsp40) homologue, subfamily B, member 2), have been recently described as a cause of hereditary neuropathies. The HSJ1 c.352+1G>A mutation in homozygote state has been reported as the causative mutation in a single family with autosomal recessive distal hereditary motor neuropathy (dHMN).1 Since then, two other families with different HSJ1 mutations have been described: one with a dHMN phenotype and the other with a Charcot-Marie-Tooth disease type 2 (CMT2) phenotype.2 We identified the HSJ1 c.352+1G>A mutation in 10 patients who underwent long-lasting follow-up. We describe their phenotype and clinical evolutio…
Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease
2015
Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variant…
Direction-dependent activation of the insular cortex during vertical and horizontal hand movements
2016
International audience; The planning of any motor action requires a complex multisensory processing by the brain. Gravity - immutable on Earth - has been shown to be a key input to these mechanisms. Seminal fMRI studies performed during visual perception of falling objects and self-motion demonstrated that humans represent the action of gravity in parts of the cortical vestibular system; in particular, the insular cortex and the cerebellum. However, little is known as to whether a specific neural network is engaged when processing non-visual signals relevant to gravity. We asked participants to perform vertical and horizontal hand movements without visual control, while lying in a 3T-MRI sc…
Motor Action Execution in Reaction-Time Movements
2019
OBJECTIVE Reaction-time movements are internally planned in the brain. Presumably, proactive control in reaction-time movements appears as an inhibitory phase preceding movement execution. We identified the brain activity of reaction-time movements in close proximity to movement onset and compared it with similar self-paced voluntary movements without external command. DESIGN We recorded 18 healthy participants performing reaction-time and self-paced fast index finger abductions with 306-sensor magnetoencephalography and electromyography. Reaction-time movements were performed as responses to cutaneous electrical stimulation delivered on the hand radial nerve area. Motor field and movement-…
Effectiveness of Mirror Therapy for Subacute Stroke in Relation to Chosen Factors.
2016
Purpose The aim of this study was to determine the effectiveness of mirror therapy (MT) combined with comprehensive treatment and to investigate the possible relationships of functional state. Design Prospective, controlled trial of 60 stroke inpatients. Methods The Functional Index "Repty" (FIR) was an outcome measure to assess changes of independence in daily activities. The Frenchay Arm Test (FAT) and Motor Status Score were outcome measures to assess changes in hand function. Findings The analysis of pre- and posttest data indicated a significant improvement in hand function ([INCREMENT]FAT in the Mirror group p = .035, N = 30). Age factor indicated a significant change in relation to F…
''Sex-related Trends In Participation and Performance In the 'swiss Bike Masters' From 1994-2012''
2013
Gloor, Roman Urs | Knechtle, Beat | Knechtle, Patrizia | Ruest, Christoph Alexander | Haupt, Samuel | Rosemann, Thomas | Lepers, Romuald; International audience; ''General participation in contests such as ultra-marathons and ultra-triathlons has increased considerably over the past 30 years, especially among women. This study investigated performance trends in the Swiss Bike Masters, one of the first and most prestigious mountain bike, ultra-endurance races in its class, with comparisons of participation and performance trends to similar races. The development of performance in the Swiss Bike Masters held between 1994 and 2012 was investigated by analysing the number of finishers, their ag…
Dynamic accommodation without feedback does not respond to isolated blur cues
2016
Highlights • A new methodology is used to study a potential cue for dynamic accommodation. • We show that human accommodation is not driven correctly by defocus alone. • Accommodation is most efficient using changes in stimulus vergence with feedback.
The effect of longitudinal chromatic aberration on the lag of accommodation and depth of field.
2016
Purpose Longitudinal chromatic aberration is present in all states of accommodation and may play a role in the accommodation response and the emmetropisation process. We study the change of the depth of field (DOFi) with the state of accommodation, taking into account the longitudinal chromatic aberration. Methods Subjective DOFi was defined as the range of defocus beyond which the blur of the target (one line of optotypes of 0.1 logMAR shown on a black-and-white microdisplay, seen through different colour filters) was perceived as objectionable. The subject's eye was paralysed and different, previously-measured accommodative states (corresponding to the accommodative demands of 0D, 2D and …
Measuring and modeling real-time responses to music: the dynamics of tonality induction.
2003
We examined a variety of real-time responses evoked by a single piece of music, the organ Duetto BWV 805 by J S Bach. The primary data came from a concurrent probe-tone method in which the probe-tone is sounded continuously with the music. Listeners judged how well the probe tone fit with the music at each point in time. The process was repeated for all probe tones of the chromatic scale. A self-organizing map (SOM) [Kohonen 1997 Self-organizing Maps (Berlin: Springer)] was used to represent the developing and changing sense of key reflected in these judgments. The SOM was trained on the probe-tone profiles for 24 major and minor keys (Krumhansl and Kessler 1982 Psychological Review89 334–…
Reliability and factor structure of the Finnish version of the Sport Imagery Questionnaire.
2006
The aim of this study was to examine the reliability and factor structure of the Finnish version of the Sport Imagery Questionnaire, a measure which examines cognitive and motivational functions of imagery. The final sample comprised 231 participants drawn from 34 sports and ranging in age from 14 to 49 years ( M = 20.9, SD= 5.8). Internal consistency and confirmatory factor analyses were undertaken to evaluate the reliability and factorial validity of the scale. Fit indices and modification data generated from examining the 30-item five-factor model were equivocal, suggesting minor amendment and recategorization of several items rather than major adjustment to the proposed latent factor s…