4.3 Article

Cortical and subcortical morphological alteration in Angelman syndrome

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome

Xiaonan Du et al.

Summary: This study assessed the phenotype and genotype of Chinese children with Angelman syndrome and found that the majority of patients had maternal deletions and an expanded mutation spectrum for UBE3A variants. Patients in the deletion group had earlier diagnosis, more severe clinical phenotype, and higher rates of epilepsy with multiple seizure types and medication use.

GENES (2022)

Review Neurosciences

White matter alterations in Williams syndrome related to behavioral and motor impairments

Ariel Nir et al.

Summary: This review explores the role of myelin in neurological and psychiatric disorders, with a focus on its impact in Williams syndrome. The authors suggest that improving myelin deficits could serve as a therapeutic mechanism for these disorders.
Review Clinical Neurology

Epilepsy in Angelman syndrome: A scoping review

Debopam Samanta

Summary: Angelman Syndrome is characterized by severe developmental delays, speech impairment, movement abnormalities, and unique behaviors caused by dysfunctional maternal UBE3A gene. 80-90% of patients experience intractable epileptic seizures, with a high prevalence between 1 and 3 years of age, which are often resistant to treatment strategies targeting GABAergic dysfunction. Recent treatment approaches aim to find curative therapies by targeting gene/protein replacement, activation of the silent paternal copy of UBE3A, and downstream therapies.

BRAIN & DEVELOPMENT (2021)

Article Clinical Neurology

Disrupted Functional and Structural Connectivity in Angelman Syndrome

H. M. Yoon et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2020)

Article Clinical Neurology

Cortico-striatal synchronization in human focal seizures

Jerome Aupy et al.

BRAIN (2019)

Article Multidisciplinary Sciences

Potassium channel dysfunction in human neuronal models of Angelman syndrome

Alfred Xuyang Sun et al.

SCIENCE (2019)

Review Clinical Neurology

The role of the basal ganglia in the control of seizure

J. Vuong et al.

JOURNAL OF NEURAL TRANSMISSION (2018)

Article Mathematical & Computational Biology

CerebroMatic: A Versatile Toolbox for Spline-Based MRI Template Creation

Marko Wilke et al.

FRONTIERS IN COMPUTATIONAL NEUROSCIENCE (2017)

Article Neurosciences

Cortical Thickness Change in Autism During Early Childhood

Elizabeth Smith et al.

HUMAN BRAIN MAPPING (2016)

Review Clinical Neurology

Angelman Syndrome

Seth S. Margolis et al.

NEUROTHERAPEUTICS (2015)

Article Neurosciences

fMRI of Simultaneous Interpretation Reveals the Neural Basis of Extreme Language Control

Alexis Hervais-Adelman et al.

CEREBRAL CORTEX (2015)

Article Neuroimaging

Investigating the relation between striatal volume and IQ

Penny A. MacDonald et al.

BRAIN IMAGING AND BEHAVIOR (2014)

Article Neurosciences

Precuneus Is a Functional Core of the Default-Mode Network

Amanda V. Utevsky et al.

JOURNAL OF NEUROSCIENCE (2014)

Article Clinical Neurology

Cortical Gyrification Reductions and Subcortical Atrophy in Parkinson's Disease

Yuanchao Zhang et al.

MOVEMENT DISORDERS (2014)

Article Multidisciplinary Sciences

Gyrification from constrained cortical expansion

Tuomas Tallinen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Neurosciences

Cortical thickness and central surface estimation

Robert Dahnke et al.

NEUROIMAGE (2013)

Review Clinical Neurology

Epilepsy as a Disorder of Cortical Network Organization

Mark A. Kramer et al.

NEUROSCIENTIST (2012)

Article Clinical Neurology

Alterations in white matter pathways in Angelman syndrome

Sarika U. Peters et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)

Article Clinical Neurology

Abnormal Language Pathway in Children With Angelman Syndrome

Benjamin J. Wilson et al.

PEDIATRIC NEUROLOGY (2011)

Article Genetics & Heredity

Prader-Willi Syndrome and Angelman Syndrome

Karin Buiting

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)

Article Neurosciences

Increased Cortical Thickness and Caudate Volume Precede Atrophy in PSEN1 Mutation Carriers

Juan Fortea et al.

JOURNAL OF ALZHEIMERS DISEASE (2010)

Article Neurosciences

Distinct Genetic Influences on Cortical Surface Area and Cortical Thickness

Matthew S. Panizzon et al.

CEREBRAL CORTEX (2009)

Article Behavioral Sciences

Supramarginal gyrus involvement in visual word recognition

Cornelia Stoeckel et al.

CORTEX (2009)

Article Computer Science, Interdisciplinary Applications

A surface-based approach to quantify local cortical gyrification

Marie Schaer et al.

IEEE TRANSACTIONS ON MEDICAL IMAGING (2008)

Article Neurosciences

A fast diffeomorphic image registration algorithm

John Ashburner

NEUROIMAGE (2007)

Article Social Sciences, Interdisciplinary

A caution regarding rules of thumb for variance inflation factors

Robert M. O'Brien

QUALITY & QUANTITY (2007)

Article Neurosciences

Caudate nucleus volume and cognitive performance: Are they related in childhood psychopathology?

Gerald T. Voelbel et al.

BIOLOGICAL PSYCHIATRY (2006)

Article Neurosciences

Increased local gyrification mapped in Williams syndrome

Christian Gaser et al.

NEUROIMAGE (2006)

Article Neurosciences

A morphogenetic model for the development of cortical convolutions

R Toro et al.

CEREBRAL CORTEX (2005)