Results 261 to 270 of about 354,249 (306)
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MAGNETIC RESONANCE IMAGING OF CENTRAL NERVOUS SYSTEM DEFECTS IN USHERʼS SYNDROME
Retina, 1987With the use of magnetic resonance imaging, seven patients with type II Usher's syndrome were evaluated for CNS defects. The goals of this study were to confirm the presence of CNS defects previously detected by computed tomography (CT) scans in patients with Usher's syndrome while seeking additional anatomic defects in the posterior fossa employing a ...
L, Piazza +5 more
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Journal of Child Neurology, 2009
The authors describe the case of a patient affected with congenital muscular dystrophy with lack of muscle α-dystroglycan. Brain gross anatomy showed lissencephaly and pachygyria. Light microscopy showed heterotopias in white matter. The brain stem and cerebellum were normal.
G. Fagiolari +11 more
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The authors describe the case of a patient affected with congenital muscular dystrophy with lack of muscle α-dystroglycan. Brain gross anatomy showed lissencephaly and pachygyria. Light microscopy showed heterotopias in white matter. The brain stem and cerebellum were normal.
G. Fagiolari +11 more
openaire +3 more sources
Surgical treatment of birth defects involving the central nervous system
Journal of Chronic Diseases, 1959Abstract About 40 per cent of all admissions to the neurosurgical service of the Children's Medical Center, Boston, are patients with prenatal defects of the central nervous system or its coverings. The surgical treatment and total care of these children is often extremely complex and prolonged. Multiple operative procedures are frequently indicated.
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Molecular-Biology Approaches to Genetic Defects of the Mammalian Nervous System
1991Publisher Summary This chapter discusses the molecular-biology approaches to genetic defects of the mammalian nervous system. One effective means for studying brain molecular function is the isolation and characterization of genes encoding neuroactive substances, their synthetic enzymes and receptors, and molecules that share sequence relationships ...
J G, Sutcliffe, G H, Travis
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Mechanisms of Central Nervous System Alcohol-Related Birth Defects
1989It has been widely demonstrated that ethanol consumption by pregnant women has adverse effects on the unborn child (13, 15, 40, 86). The complex of alcohol-induced abnormalities are known collectively as the fetal alcohol syndrome (FAS; 39). Physical malformations include craniofacial dysmorphology and growth retardation (12), whereas dysfunctions of ...
P. Kevin Rudeen, Julia A. Creighton
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Molecular Defects in the DM Central Nervous System
2018The central nervous manifestation of myotonic dystrophy (DM) is one of the most devastating features of this disorder, along with muscle- and heart-related symptoms. Neuropathologically, neurofibrillary degeneration accompanying hyperphosphorylated microtubule-associated tau and C(C)UG nucleotide repeat accumulation in the nucleus are observed in DM ...
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Brain and other central nervous system tumor statistics, 2021
Ca-A Cancer Journal for Clinicians, 2021Kimberly D Miller +2 more
exaly
Genetic approaches to the nosology of nervous system defects.
Birth defects original article series, 1975The significance of genetics to the nosology of nervous system diseases has been shown in spastic paraplegias and spinocerebellar ataxias. At least about 60 different genetic types have been recognized to date. In most diseases, the genetic exploration and discrimination of types has been possible only by clinical, pathologic and simple genetic ...
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Congenital Defects of the Central Nervous System
International Journal of Research Publication and Reviews, 2023openaire +1 more source

