Results 91 to 100 of about 11,896 (240)
, 2017 We consider the mechanisms by which folds, or sulci (troughs) and gyri (crests), develop in the brain. This feature, common to many gyrencephalic species including humans, has attracted recent attention from soft matter physicists.
Garikipati, K., Verner, S. N.
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Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies. [PDF]
, 2015 Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic enteropathies, with a typical onset early in life. In many of these conditions, severe chronic diarrhoea represents the primary clinical manifestation, whereas in others ...
BERNI CANANI, ROBERTO +4 more
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Gynecology Obstetrics & Reproductive Medicine, 2014 We present the abnormal sonographic findings in the brain of a 26-week fetus, which increased the suspicion of isolated lissencephaly. The woman had a history of prednisolone use in early pregnancy, and conceived with copper containing intra uterine ...
Mehmet Serdar Kütük +4 more
doaj
Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population [PDF]
, 2013 BACKGROUND: Autism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior.
Alcantara S +13 more
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Lissencephaly: Clinical and neuroimaging features in children [PDF]
, 2021 Nathaly S. Lapo-Córdova +2 more
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Epilepsia, Volume 66, Issue 10, Page 4035-4052, October 2025.Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo +9 more
wiley +1 more source
Lis1 is an initiation factor for dynein-driven organelle transport [PDF]
, 2012 The molecular motor cytoplasmic dynein is responsible for most minus-end–directed, microtubule-based transport in eukaryotic cells. It is especially important in neurons, where defects in microtubule-based motility have been linked to neurological ...
Egan, Martin +2 more
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Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development
Journal of Neurochemistry, Volume 169, Issue 10, October 2025.Ceramides and sphingolipids in brain development and cell compartments. Ceramides and sphingolipids are known to influence multiple steps of brain development, including the formation of the neural tube, neural stem cell polarity and proliferation at the ventricular boundary, neuronal migration—for example, whilst migrating on radial glial processes ...
Kaviya Chinnappa +2 more
wiley +1 more source
Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria)
The Turkish Journal of Pediatrics, 2000 Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 ...
M Ozmen +4 more
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The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend
Journal of Developmental Biology, 2017 Microtubules are dynamic cytoskeletal polymers that mediate numerous, essential functions such as axon and dendrite growth and neuron migration throughout brain development.
Jayne Aiken +3 more
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