نتایج جستجو برای: neuroaxonal dystrophy
تعداد نتایج: 22776 فیلتر نتایج به سال:
Data were collected from 37 horses with a neurologic disability and compared to a group of 34 normal horses. Affected horses had neuroaxonal dystrophy, gliosis, vacuoles, and sometimes pigment localized to the accessory cuneate nuclei with minimal or no changes in the spinal cord and no changes in the proximal peripheral nerves. The focal nature of the change and usual absence of significant li...
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The papers by Brickley, Bhagat and Lease ('The Impact of Long-Range Managerial Compensation Plans on Shareholder Wealth') and by Tehranian and Waegelein ('Market Reaction to Short-Term Executive Compensation Plan Adoption') examine stock price performance around the time firms adopt management incentive plans. Each paper finds positive stock price performance. In this overview, I integrate the ...
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation is so far unknown which impairs both genetic diagnosis and appropriate family counseling. We report detailed clinical, electrophysiological, neuroi...
Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is h...
Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there is no report on the genetic analysis of families with members affected with INAD, ANAD and DPC from India. Therefore, the main aim of this study wa...
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