Results 61 to 70 of about 3,144,487 (302)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
, 2016 Eye diseases in dogs are often very similar to humans eye disease. Eye diseases are becoming more common in pure breed of dogs, therefore it is important to take them into consideration, particularly when we are crossing the parent generation.
Šmejkalová, Barbora
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang +23 more
wiley +1 more source
BMJ Open OphthalmologyThere has been a growing interest in lamellar keratoplasty over penetrating keratoplasty in the treatment of cornea diseases. Children, in particular, may benefit from lamellar keratoplasty due to faster visual recovery, better outcomes, fewer eye drops ...
Jodhbir S. Mehta, Yuan-Yuh Leong
doaj +1 more source
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]
, 2014 Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
Cristina Scaduto +44 more
core +2 more sources
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018 Axenfeld-Rieger syndrome is a rare congenital disease that has an autosomal-dominant inheritance pattern. The ophthalmic disorder with the dysgenesis of the anterior segment is what defines the disease. This study presents the case of a 9-month-old still-
Kenia Verdecia-Jacobo +2 more
doaj
Burden and characteristics of inherited retinal diseases in China
Scientific ReportsHereditary eye diseases, particularly inherited retinal diseases (IRDs), are major causes of visual impairment and blindness. However, IRDs real-world impact in China remains limited.
Yuqing Lin +7 more
doaj +1 more source
Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis [PDF]
Клиническая офтальмология, 2018 V.V. Kadyshev1, A.V. Marakhonov1, S.I. Kutsev1,2, R.A. Zinchenko1,3 1 Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russian Federation 2 Pirogov Russian National Research Medical University, Moscow ...
V.V. Kadyshev +3 more
doaj
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu +7 more
wiley +1 more source