Disrupted functional and structural connectivity in Angelman syndrome

HM Yoon, Y Jo, WH Shim, JS Lee… - American Journal …, 2020 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: This work investigated alterations in functional
connectivity (FC) and associated structures in patients with Angelman syndrome (AS) by …

[HTML][HTML] From cortical and subcortical grey matter abnormalities to neurobehavioral phenotype of Angelman syndrome: a voxel-based morphometry study

G Aghakhanyan, P Bonanni, G Randazzo, S Nappi… - PLoS …, 2016 - journals.plos.org
Angelman syndrome (AS) is a rare neurogenetic disorder due to loss of expression of
maternal ubiquitin-protein ligase E3A (UBE3A) gene. It is characterized by severe …

[HTML][HTML] Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome

M Leyser, MCD Gonsalvez, PE de Souza Vianna… - Neurology …, 2016 - journals.lww.com
Background: Global developmental delay, lack of speech, and severe epilepsy are the
characteristic hallmarks of Angelman syndrome (AS). The purpose of this study was to …

Disrupted topological organization of white matter network in Angelman syndrome

L Wei, X Du, Z Yang, M Ding, B Yang… - Journal of Magnetic …, 2023 - Wiley Online Library
Background Angelman syndrome (AS) is a genetic disorder that affects neurodevelopment.
The investigation of changes in the brain white matter network, which would contribute to a …

Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: a new method using tract based spatial statistics of DTI color-coded …

VN Tiwari, J Jeong, BJ Wilson, ME Behen, HT Chugani… - Neuroimage, 2012 - Elsevier
AIM: In order to relate brain structural abnormalities to clinical features of Angelman
Syndrome (AS), we determined the locations of abnormal regional white matter architecture …

[HTML][HTML] Cortical and subcortical morphological alteration in Angelman syndrome

X Du, L Wei, B Yang, S Long, J Wang, A Sun… - Journal of …, 2023 - Springer
Background Angelman syndrome (AS) is a neurodevelopmental disorder with serious
seizures. We aim to explore the brain morphometry of patients with AS and figure out …

Alterations in white matter pathways in Angelman syndrome

SU Peters, WE Kaufmann, CA Bacino… - … Medicine & Child …, 2011 - Wiley Online Library
Aim Angelman syndrome is a neurogenetic disorder characterized by severe intellectual
disability, absent speech, seizures, and outbursts of laughter. The aim of this study was to …

Abnormal language pathway in children with Angelman syndrome

BJ Wilson, SK Sundaram, AHM Huq, JW Jeong… - Pediatric …, 2011 - Elsevier
Angelman syndrome is a genetic disorder characterized by pervasive developmental
disability with failure to develop speech. We examined the basis for severe language delay …

What would the brain look like in Angelman syndrome?

B Dan, K Pelc, C Christophe - european journal of paediatric …, 2009 - ejpn-journal.com
Scientific knowledge relies on sound evidence. In many domains the latter is still erratic, so
that the former is provisionally replaced by inference based on scant data provided …

Abnormal myelination in Angelman syndrome

I Harting, A Seitz, D Rating, K Sartor, J Zschocke… - european journal of …, 2009 - Elsevier
Patients with Angelman syndrome (OMIM# 105830) are generally thought to have normal
brain imaging studies except for occasional minor cerebral atrophy. We report 9 patients …