Results 51 to 60 of about 2,258 (187)
The FEBS Journal, Volume 292, Issue 18, Page 4898-4917, September 2025.Variants at position R196 in cytoskeletal β‐actin are the most common variants associated with Baraitser–Winter cerebrofrontofacial syndrome and result in craniofacial anomalies and neurodevelopmental disorders, most likely due to neuronal migration defects. This study explores the molecular mechanisms of p.R196 variants using purified proteins.
Johannes N. Greve, Dietmar J. Manstein
wiley +1 more source
Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine
Advanced Science, Volume 12, Issue 29, August 7, 2025.Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang +4 more
wiley +1 more source
The influence of biophysical parameters in a biomechanical model of cortical folding patterns
Scientific Reports, 2021 Abnormal cortical folding patterns, such as lissencephaly, pachygyria and polymicrogyria malformations, may be related to neurodevelopmental disorders.
Xiaoyu Wang +5 more
doaj +1 more source
Prenatal Diagnosis, Volume 45, Issue 8, Page 1074-1077, July 2025.Abstract Knobloch Syndrome‐1 is a rare autosomal recessive disorder typically diagnosed postnatally and characterized by occipital encephalocele, high myopia, and vitreoretinal degeneration. We describe a fetus with a constellation of prenatal neuroimaging findings, including occipital cephalocele, vermian dysplasia, bilateral polymicrogyria, and ...
Laurence Sophie Carmant +7 more
wiley +1 more source
Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 7, Page 1304-1317, July 2025.Abnormal cavum septi pellucidi is the most common indirect sign of partial agenesis of corpus callosum (pACC). A cystic mass in the midline that communicates with the third ventricle may be an indirect sign of pACC. PACC is highly associated with intra‐ and extracranial malformations.
Changrong Zhou +8 more
wiley +1 more source
Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly
Epilepsia, Volume 66, Issue 6, Page 2099-2109, June 2025.Abstract Objective Mutations in genes of the mTOR pathway have been identified as a major cause of hemimegalencephaly (HMG), focal cortical dysplasia type II, and tuberous sclerosis, cortical malformations associated with epilepsy. These conditions are characterized at the cellular level by increased size of pyramidal neurons that grow with dysmorphic ...
Antoinette‐Bernabe Gelot +8 more
wiley +1 more source
Prenatal Diagnosis of Proteus Syndrome: About a Case
American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.ABSTRACT Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
Luana Giovannangeli +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.ABSTRACT Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile‐onset epilepsy, frontal cortical dysplasia, and developmental delays including motor and speech impairments. Previously, only three missense variants in KIF5C were known to be pathogenic.
Sara Gracie +12 more
wiley +1 more source
Neurobiology of Disease, 2010 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
doaj +1 more source