Results 1 to 10 of about 85,596 (253)
Lissencephaly–pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the LIS1, DCX, ARX, TUBA1A and RELN genes have been associated with these malformations ...
Renzo Guerrini, Elena Parrini
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Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias [PDF]
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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Neuronal migration disorders: Focus on the cytoskeleton and epilepsy [PDF]
A wide spectrum of focal, regional, or diffuse structural brain abnormalities, collectively known as malformations of cortical development (MCDs), frequently manifest with intellectual disability (ID), epilepsy, and/or autistic spectrum disorder (ASD ...
Melissa A. Stouffer +2 more
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Thirty patients with intractable partial epilepsy and a pathological or radiological diagnosis of neuronal migration disorders (NMD) were studied at the Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
J Gordon Millichap
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Toward a Better Understanding of Neuronal Migration Deficits in Autism Spectrum Disorders
Newborn neurons in developing brains actively migrate from germinal zones to designated regions before being wired into functional circuits. The motility and trajectory of migrating neurons are regulated by both extracellular factors and intracellular ...
Yi-Hsuan Pan +3 more
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De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism [PDF]
Reelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical ...
Martina Riva +23 more
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Neuronal migration and disorders – an update
This review highlights genes, proteins and subcellular mechanisms, recently shown to influence cortical neuronal migration. A current view on mechanisms which become disrupted in a diverse array of migration disorders is presented. The microtubule (MT) cytoskeleton is a major player in migrating neurons.
Francis, Fiona, Cappello, Silvia
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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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Disorders of Neuronal Migration [PDF]
DISORDERS OF NEURONAL MIGRATION Edited by Peter G. Barth 2003. Pp. 210. Cambridge: Cambridge University Press Price £45. ISBN 1‐898‐68331‐X As a young geneticist with a deep interest in neuropaediatrics, I was pleased to be asked to review this recently published book.
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Radial neuronal migration is a key neurodevelopmental event indispensable for proper cortical laminar organization. Cortical neurons mainly use glial fiber guides, cell adhesion dynamics, and cytoskeletal remodeling, among other discrete processes, to ...
Godwin Sokpor +17 more
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