The Experts below are selected from a list of 24927 Experts worldwide ranked by ideXlab platform
Benoît G. Bardy - One of the best experts on this subject based on the ideXlab platform.
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Visuo-Motor Delay, information-movement coupling, and expertise in ball sports.
Journal of Sports Sciences, 2010Co-Authors: Cyrille Le Runigo, Nicolas Benguigui, Benoît G. BardyAbstract:We compared the performance of tennis experts and non-experts using a simulated interceptive task, in which the ball could be unexpectedly deviated 400 ms before contact. The results showed that experts were more accurate than non-experts when intercepting balls that deviated in their trajectory and that this could be explained by their shorter visuo-Motor Delay in adapting their interceptive movement. In addition, multiple regression analyses revealed that visuo-Motor Delay was a good predictor of accuracy in this task. Finally, accuracy in the simulated interceptive task was shown to be a reasonable predictor of expertise in tennis assessed by national ranking. In combination, the present results suggest that an important component of expertise in interceptive skills is fast information-movement coupling, which corresponds to a reduced Delay in integrating vision and action. Our findings highlight the potential of the virtual interceptive task used here to predict performance in tennis.
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Visuo-Motor Delay, information―movement coupling, and expertise in ball sports
Journal of sports sciences, 2010Co-Authors: Cyrille Le Runigo, Nicolas Benguigui, Benoît G. BardyAbstract:Abstract We compared the performance of tennis experts and non-experts using a simulated interceptive task, in which the ball could be unexpectedly deviated 400 ms before contact. The results showed that experts were more accurate than non-experts when intercepting balls that deviated in their trajectory and that this could be explained by their shorter visuo-Motor Delay in adapting their interceptive movement. In addition, multiple regression analyses revealed that visuo-Motor Delay was a good predictor of accuracy in this task. Finally, accuracy in the simulated interceptive task was shown to be a reasonable predictor of expertise in tennis assessed by national ranking. In combination, the present results suggest that an important component of expertise in interceptive skills is fast information–movement coupling, which corresponds to a reduced Delay in integrating vision and action. Our findings highlight the potential of the virtual interceptive task used here to predict performance in tennis.
Merlin G. Butler - One of the best experts on this subject based on the ideXlab platform.
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Five new subjects with ring chromosome 22.
Clinical Genetics, 2003Co-Authors: Holly A. Ishmael, D Cataldi, Michael L. Begleiter, Lm Pasztor, Mj Dasouki, Merlin G. ButlerAbstract:Ring chromosome 22, a rare cytogenetic finding, was first described by Weleber et al. in 1968. Since then approximately 50 patients have been reported in the medical literature. We describe five previously unreported subjects with ring chromosome 22 syndrome, summarize the clinical findings of reported patients from the literature and discuss the involvement of the ring chromosome and clinical outcome. Our subjects demonstrated the prominent features of this syndrome including mental retardation, hypotonia, Motor Delay, lack of speech, full eyebrows, and large ears. In addition, two of our subjects had central nervous system malformations and regression. The lack of consistent physical abnormalities in our subjects further supports no consistent phenotype manifestations in this cytogenetic syndrome. The variable clinical manifestations seen in ring chromosome 22 subjects may be associated with loss of chromosome 22 sequences near the telomere or attributed to the genetic background of each subject. Similarly, recessive alleles unmasked by the deletion could also contribute to the phenotype.
Elsa Rossignol - One of the best experts on this subject based on the ideXlab platform.
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An atypical case of SCN9A mutation presenting with global Motor Delay and a severe pain disorder.
Muscle & nerve, 2013Co-Authors: Inge Meijer, Michel Vanasse, Sonia Nizard, Yves Robitaille, Elsa RossignolAbstract:Introduction: Erythromelalgia due to heterozygous gain-of-function SCN9A mutations usually presents as a pure sensory–autonomic disorder characterized by recurrent episodes of burning pain and redness of the extremities. Methods: We describe a patient with an unusual phenotypic presentation of gross Motor Delay, childhood-onset erythromelalgia, extreme visceral pain episodes, hypesthesia, and self-mutilation. The investigation of the patient's Motor Delay included various biochemical analyses, a comparative genomic hybridization array (CGH), electromyogram (EMG), and muscle biopsy. Once erythromelalgia was suspected clinically, the SCN9A gene was sequenced. Results: The EMG, CGH, and biochemical tests were negative. The biopsy showed an axonal neuropathy and neurogenic atrophy. Sequencing of SCN9A revealed a heterozygous missense mutation in exon 7; p.I234T. Conclusions: This is a case of global Motor Delay and erythromelalgia associated with SCN9A. The Motor Delay may be attributed to the extreme pain episodes or to a developmental perturbation of proprioceptive inputs. Muscle Nerve 49: 134–138, 2014
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An Atypical Case of an SCN9A Mutation with Global Motor Delay and Erythromelalgia (IN1-1.010)
Neurology, 2013Co-Authors: Inge Meijer, Michel Vanasse, Sonia Nizard, Yves Robitaille, Elsa RossignolAbstract:OBJECTIVE: To describe the atypical clinical presentation of a patient with an SCN9A mutation. BACKGROUND: Erythromelalgia is characterized by recurrent episodes of burning pain and redness of the extremities and is caused by heterozygote gain-of-function mutations in the SCN9A gene, coding for the NAv1.7 channel. It usually presents as a pure sensory-autonomic disorder. We describe a patient with an SCN9A mutation and an usual phenotypic presentation of gross Motor Delay, childhood-onset erythromelalgia, extreme visceral pain episodes, followed by hypoesthesia and automutilation. DESIGN/METHODS: The investigation of the patient9s Motor Delay included various biochemical analyses, an EMG, a muscle biopsy, and a quantitative PCR of SMN1 . Once erythromelalgia was suspected, the SCN9A gene was sequenced. Sequential therapeutic trials of amitriptyline, gabapentin, carbamazepine and mexiletine were attempted. RESULTS: The EMG, CGH, EEG and metabolic tests were negative. The sural nerve biopsy showed an axonal neuropathy, whereas the muscle biopsy showed signs of neurogenic atrophy. Sequencing of the SCN9A gene revealed a heterozygote missense mutation in exon 7; p.I234T. CONCLUSIONS: We present the first case of global Motor Delay and erythromelalgia associated with an SCN9A mutation. The gross Motor Delay might be attributed to the extreme pain episodes or to a developmental perturbation of sensory-Motor integration. Disclosure: Dr. Meijer has nothing to disclose. Dr. Vanasse has received personal compensation for activities with Janssen as a speaker. Dr. Vanasse has received research support from L9Institut de recherche Yves Ponroy. Dr. Nizard has nothing to disclose. Dr. Robitaille has nothing to disclose. Dr. Rossignol has nothing to disclose.
Cyrille Le Runigo - One of the best experts on this subject based on the ideXlab platform.
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Visuo-Motor Delay, information-movement coupling, and expertise in ball sports.
Journal of Sports Sciences, 2010Co-Authors: Cyrille Le Runigo, Nicolas Benguigui, Benoît G. BardyAbstract:We compared the performance of tennis experts and non-experts using a simulated interceptive task, in which the ball could be unexpectedly deviated 400 ms before contact. The results showed that experts were more accurate than non-experts when intercepting balls that deviated in their trajectory and that this could be explained by their shorter visuo-Motor Delay in adapting their interceptive movement. In addition, multiple regression analyses revealed that visuo-Motor Delay was a good predictor of accuracy in this task. Finally, accuracy in the simulated interceptive task was shown to be a reasonable predictor of expertise in tennis assessed by national ranking. In combination, the present results suggest that an important component of expertise in interceptive skills is fast information-movement coupling, which corresponds to a reduced Delay in integrating vision and action. Our findings highlight the potential of the virtual interceptive task used here to predict performance in tennis.
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Visuo-Motor Delay, information―movement coupling, and expertise in ball sports
Journal of sports sciences, 2010Co-Authors: Cyrille Le Runigo, Nicolas Benguigui, Benoît G. BardyAbstract:Abstract We compared the performance of tennis experts and non-experts using a simulated interceptive task, in which the ball could be unexpectedly deviated 400 ms before contact. The results showed that experts were more accurate than non-experts when intercepting balls that deviated in their trajectory and that this could be explained by their shorter visuo-Motor Delay in adapting their interceptive movement. In addition, multiple regression analyses revealed that visuo-Motor Delay was a good predictor of accuracy in this task. Finally, accuracy in the simulated interceptive task was shown to be a reasonable predictor of expertise in tennis assessed by national ranking. In combination, the present results suggest that an important component of expertise in interceptive skills is fast information–movement coupling, which corresponds to a reduced Delay in integrating vision and action. Our findings highlight the potential of the virtual interceptive task used here to predict performance in tennis.
Holly A. Ishmael - One of the best experts on this subject based on the ideXlab platform.
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Five new subjects with ring chromosome 22.
Clinical Genetics, 2003Co-Authors: Holly A. Ishmael, D Cataldi, Michael L. Begleiter, Lm Pasztor, Mj Dasouki, Merlin G. ButlerAbstract:Ring chromosome 22, a rare cytogenetic finding, was first described by Weleber et al. in 1968. Since then approximately 50 patients have been reported in the medical literature. We describe five previously unreported subjects with ring chromosome 22 syndrome, summarize the clinical findings of reported patients from the literature and discuss the involvement of the ring chromosome and clinical outcome. Our subjects demonstrated the prominent features of this syndrome including mental retardation, hypotonia, Motor Delay, lack of speech, full eyebrows, and large ears. In addition, two of our subjects had central nervous system malformations and regression. The lack of consistent physical abnormalities in our subjects further supports no consistent phenotype manifestations in this cytogenetic syndrome. The variable clinical manifestations seen in ring chromosome 22 subjects may be associated with loss of chromosome 22 sequences near the telomere or attributed to the genetic background of each subject. Similarly, recessive alleles unmasked by the deletion could also contribute to the phenotype.