Results 1 to 10 of about 7,912 (202)
Pediatric Neurology Briefs, 1990 The diagnostic features and clinical signs of 21 patients with lissencephaly type I are reviewed from the Department of Neurology, Westeinde Hospital, The Hague, The Netherlands; the Departments of Child Neurology, Academic Medical Centre, Amsterdam, and
J Gordon Millichap
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Lissencephaly and cerebellar hypoplasia in a goat [PDF]
Ciência Rural, 2013 A case of lissencephaly and cerebellar hypoplasia was observed in a 30-day-old goat. The goat presented with sternal recumbence, absence of a menace response, intention tremors, ataxia, and nystagmus.
José Rômulo Soares dos Santos +6 more
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Lissencephaly: Causal Heterogeneity
Pediatric Neurology Briefs, 1992 Clinical, cytogenetic and molecular studies in 65 patients with isolated lissencephaly sequence (ILS) are reported from Indiana University School of Medicine, Indianapolis; Tufts New England Medical Center, Boston; Eastern Virginia Medical School ...
J Gordon Millichap
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Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review
Radiology Case ReportsCobblestone lissencephaly (C-LIS) (TYPE II) is a rare and severe neuronal migration disorder characterized by a smooth brain surface with overmigrated neurons and abnormal formation of cerebral convolutions or gyri during fetal development, resulting in ...
Praveen K. Sharma, MD +4 more
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TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review
Frontiers in PediatricsBackgroundTUBGCP2 variants are associated with the LIS spectrum disorders, but its pathogenesis remains unclear. To retrospectively analyze the clinical features and genetic information of patients having lissencephaly spectrum disorders associated with ...
Tao Yu, Miao Yu, Xueyan Liu, Hua Wang
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Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography
Brain Sciences, 2023 Lissencephaly (LIS) is a rare neurodevelopmental disorder with severe symptoms caused by abnormal neuronal migration during cortical development. It is caused by both genetic and non-genetic factors.
Alpen Ortug +5 more
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Dictyostelium discoideum: A Model System for Neurological Disorders
Cells, 2022 Background: The incidence of neurological disorders is increasing due to population growth and extended life expectancy. Despite advances in the understanding of these disorders, curative strategies for treatment have not yet eventuated. In part, this is
Claire Louise Storey +3 more
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Brain Sciences, 2021 The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller–Dieker syndrome (MDS) and 17p13.3 duplication syndrome.
Xiaonan Liu +3 more
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Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias
Frontiers in Neuroscience, 2015 Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere
Mitsuhiro eKato, Mitsuhiro eKato
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Anesthetic Management and Bispectral Index in a Child with Miller–Dieker Syndrome: A Case Report
Children, 2023 Miller–Dieker syndrome (MDS) is a genetic disorder characterized by classic lissencephaly, distinctive facial features, intellectual disability, seizures, and early death. The anesthetic management of patients with MDS should focus on airway manipulation
Sang Jin Park +3 more
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