Results 41 to 50 of about 124,100 (290)

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Gait simulation in children with cerebral palsy using a three-dimensional neuromuscular skeleton model

Nihon Kikai Gakkai ronbunshu, 2021
Cerebral palsy (CP) causes abnormal gait pattern due to increased stretch reflex and contracture in specific muscles. Increased stretch reflexes in CP are caused by increased activation of muscle spindles due to increased sensitivity of gamma motor ...
Ryosuke YUMOTO, Kazunori HASE, Akira YOSHIKAWA, SungHyek KIM   +3 more
doaj   +1 more source

Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers [PDF]

, 1992
Patients with Kallmann's syndrome show hypothalamic hypogonadism, hyposmia, and congenital mirror movements. As a correlate, a defect of gonadotropic neuron migration into the brain was recently detected. Considering abnormal outgrowth of neurons also as
Aizawa, Baird, Benecke, Britton, Capaday, Claus, Cohen, Conrad, Danek, Farmer, Forget, Freiman, Fries, Galaburda, Kallmann, Klingm�ller, Konagaya, Lander, Lieblich, Matthews, Meitinger, Nass, Nathan, Regli, Salmaso, Schott, Schwankhaus, Schwanzel-Fukuda, Schwanzel-Fukuda, Shibasaki, Skene, Weidenreich, White, Witt   +33 more
core   +1 more source

Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting, Du Liping, Yang Yi, Hu Jin, Ye Bijun, Wang Jianer, Liu Shuangsi, Guo Shunyuan, Cai Xiaofeng, Wang Huiyuan, Wu Bin, Yu Xiang, Shi Tianming   +12 more
wiley   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

BLINK REFLEX IN MULTIPLE SCLEROSIS: AN ANCILLARY TEST FOR DETECTING BRAIN STEM LESIONS

Journal of Research in Medical Sciences, 2001
Introduction. Electrodiagnostic tests are one of the ancillary procedures that are used for diagnosis of multiple sclerosis (MS). This study investigates the frequency of abnormal blink reflex in patients with MS. Methods.
M ETEMEDYFAR, M SHIRAZADI, M.R NAJAFI, M HOSSEININEJAD   +3 more
doaj  

Reliability of Smart Phone Photographs for School Eye Screening

Children, 2022
Smartphone photographs capturing Bruckner’s reflex have demonstrated reliability in identifying amblyogenic conditions in children. Assessing visual acuity for screening has been the traditional method since the inception of school screening. The present
Rajat M. Srivastava, Suchi Verma, Shubham Gupta, Apjit Kaur, Shally Awasthi, Siddharth Agrawal   +5 more
doaj   +1 more source

The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma, Ilo Leppik, Thomas Henry, Thaddeus Walczak, Sima Patel, Robert McGovern   +5 more
wiley   +1 more source

THE VALUE OF SIGNS AND SYMPTOMS IN THE DIAGNOSIS OF SPERMATIC CORD TORSION [PDF]

Basrah Journal of Surgery, 2015
The aim of this study is to evaluate the most useful clinical signs and symptoms in the diagnosis of spermatic cord torsion, and so decreasing unnecessary surgical exploration and testicular loss rates for these patients.
Noori H Jasim, Adnan O Al Mayyahi, Salah Aldeen M Al Hakee   +2 more
doaj   +1 more source