Golgipathies in neurodevelopment: a new view of old defects

S Rasika, S Passemard, A Verloes… - Developmental …, 2019 - karger.com
The Golgi apparatus (GA) is involved in a whole spectrum of activities, from lipid
biosynthesis and membrane secretion to the posttranslational processing and trafficking of …

Recognisable Neuroradiological Findings in Five Neurogenetic Disorders

J Rosenblum, M Meuwissen, AC Jansen… - Clinical …, 2025 - Wiley Online Library
The rate of discovery and increased understanding of genetic causes for
neurodevelopmental disorders has peaked over the past decade. It is well recognised that …

[HTML][HTML] Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations

A Accogli, M Severino, A Riva, F Madia, G Balagura… - Seizure, 2020 - Elsevier
Purpose Malformations of cortical development (MCD) are a phenotypically and genetically
heterogeneous group of disorders, for which the diagnostic rate of genetic testing in a …

The expanding phenotypic spectrum of ARFGEF2 gene mutation: cardiomyopathy and movement disorder

S Yilmaz, S Gokben, G Serdaroglu, C Eraslan… - Brain and …, 2016 - Elsevier
Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) gene
was recently recognized to cause bilateral periventricular nodular heterotopia, putaminal …

Fetal and neonatal neurogenetics

AC Jansen, K Keymolen - Handbook of clinical neurology, 2019 - Elsevier
Disorders of the developing nervous system may be of genetic origin, comprising congenital
malformations of spine and brain as well as metabolic or vascular disorders that affect …

Regulating the regulators: role of phosphorylation in modulating the function of the GBF1/BIG family of Sec7 ARF‐GEFs

K Walton, A Leier, E Sztul - Febs Letters, 2020 - Wiley Online Library
Membrane traffic between secretory and endosomal compartments is vesicle‐mediated and
must be tightly balanced to maintain a physiological compartment size. Vesicle formation is …

Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation

EJ Bardón-Cancho, L Muñoz-Jiménez… - Pediatric Neurology, 2014 - Elsevier
Background Heterotopias are a neuronal migration disorder caused by extrinsic factors or by
genetic mutations. When the location is periventricular, the most frequent genetic cause is …

Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes

S Vogelezang, JP Bradfield, SFA Grant, JF Felix… - BMC Medical …, 2022 - Springer
Background Head circumference is associated with intelligence and tracks from childhood
into adulthood. Methods We performed a genome-wide association study meta-analysis and …

Lesional and non-lesional epilepsies: A blurring genetic boundary

R Guerrini, E Parrini, A Esposito, A Fassio… - European Journal of …, 2020 - Elsevier
There has been a traditional conceptual partition between the so-called non-lesional genetic
epilepsies and the genetically determined interposed epileptogenic structural abnormalities …

Filamin A and Big2: a shared endocytic pathway

VL Sheen - Bioarchitecture, 2014 - Taylor & Francis
Neural proliferation, migration and differentiation require reorganization of the actin
cytoskeleton and regulation of vesicle trafficking to provide stability in maintaining cell …