Results 101 to 110 of about 20,177 (294)

Motor neuronopathy with dropped hands and downbeat nystagmus: A distinctive disorder? A case report [PDF]

, 2006
Background Eye movements are clinically normal in most patients with motor neuron disorders until late in the disease course. Rare patients are reported to show slow vertical saccades, impaired smooth pursuit, and gaze-evoked nystagmus.
Nimish J Thakore, Erik P Pioro, Janet C Rucker, R John Leigh, RJ Leigh, K Okamoto, T Mizutani, S Shaunak, I Evdokimidis, L Averbuch-Heller, MJ Kushner, M Gizzi, J Marti-Fabregas, JC Rucker, FE Lepore, T Kanda, AA Sima, C Pierrot-Deseilligny, C Helmchen, BR Brooks, G Antonini, C Tilikete, KO Bushara, M Abele   +23 more
core   +2 more sources

Data‐Driven Design of Bimodal Networked Dielectric Elastomers for High‐Performance Artificial Muscles

Advanced Intelligent Systems, EarlyView.
A data‐efficient artificial intelligence‐assisted framework, which integrates experimental data with machine learning, is developed for the design of bimodal networked dielectric elastomers (DEs) as advanced artificial muscles. It adopts neural networks to predict DEs’ mechanical properties and support vector machines to classify electromechanical ...
Ofoq Normahmedov, Hanzhi Ma, Junbo Peng, Huifeng Dong, Jiangshan Zhuo, Mengke Shi, Lvting Wang, Shengchao Jiang, Ye Shi   +8 more
wiley   +1 more source

Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA. [PDF]

, 2014
Macroautophagy (hereafter autophagy) is a key pathway in neurodegeneration. Despite protective actions, autophagy may contribute to neuron demise when dysregulated.
Batlevi, Yakup, Carromeu, Cassiano, Cortes, Constanza J, Frankowski, Harald, Garden, Gwenn A, Ivanov, Nishi, La Spada, Albert R, Le, Amy, Miranda, Helen C, Muotri, Alysson R, Sopher, Bryce L, Young, Jessica E   +11 more
core  

Diatom‐Inspired 1D Immobile Robots Capable of 2D Collective Mobility

Advanced Intelligent Systems, EarlyView.
This study presents a diatom‐inspired robotic system that explores group coordination through limited physical interactions. The researchers tune groups of Barbots, simple robotic agents that possess neither individual mobility nor explicit communication capabilities, to achieve complex and adaptive collaboration based on environmental light.
Tianyi Hu, Yunjia Zhang, Chu Qiao, Tingrui Zhang, Shuguang Li   +4 more
wiley   +1 more source

Weakness and Progressive Muscle Tightness Diagnosed as Kennedy Disease

International Clinical Neuroscience Journal, 2015
Kennedy disease is a rare X-linked neurodegenerative disorder that affects patients in 30-50 years of age. It is caused by CAG-repeat in androgen receptor gen. There is no known effective treatment for Kennedy disease. We report a 60-year-old man who had
Behdad Behnam, Mehran Arab Ahmadi, Farzad Ashrafi   +2 more
doaj   +1 more source

Targeted Molecular Therapies for SBMA [PDF]

, 2015
Spinal and bulbar muscular atrophy (SBMA) is a late-onset neuromuscular disease caused by a polyglutamine expansion in the androgen receptor gene which results in progressive spinal and bulbar motor neuron degeneration, and muscle atrophy.
Greensmith, L, Malik, B, Rinaldi, C
core   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Brown-Vialetto-Van Laere syndrome [PDF]

, 2008
The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years.
Sivakumar Sathasivam
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

An update on myasthenia gravis [PDF]

, 2000
Myasthenia gravis (MG) is an autoimmune disease characterised by autoantibodies against acetylcholine receptors at neuromuscular junctions, resulting in defective neuromuscular transmission.
Chan, KH, Ho, SL
core