Results 71 to 80 of about 1,509,615 (258)

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family

Scientific Reports, 2017
The emergence of genes implicated across multiple comorbid neurologic disorders allows to identify shared underlying molecular pathways. Recently, investigation of patients with diverse neurologic disorders found TANC1 and TANC2 as possible candidate ...
Alessandra Gasparini, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi   +3 more
doaj   +1 more source

Factors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon, Ka‐Ho Wong, Mirriam Mananah, Christopher D. Anderson, Ada Fenick, Amy Arnsten, Arman Fesharaki‐Zadeh, James C. McPartland, Mary L. Adams, Kevin N. Sheth   +9 more
wiley   +1 more source

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

Molecular Autism, 2019
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene ...
Monica Sonzogni, Johanna Hakonen, Mireia Bernabé Kleijn, Sara Silva-Santos, Matthew C. Judson, Benjamin D. Philpot, Geeske M. van Woerden, Ype Elgersma   +7 more
doaj   +1 more source

Circular RNAs arising from synaptic host genes during human neuronal differentiation are modulated by SFPQ RNA-binding protein

BMC Biology, 2023
Background Circular RNA (circRNA) molecules, generated through non-canonical back-splicing of exon-exon junctions, have recently been implicated in diverse biological functions including transcriptional regulation and modulation of protein interactions ...
Michelle E. Watts, Marika Oksanen, Sanna Lejerkrans, Francesca Mastropasqua, Myriam Gorospe, Kristiina Tammimies   +5 more
doaj   +1 more source

A Thalamocortical Perspective on Sleep Spindle Alterations in Neurodevelopmental Disorders. [PDF]

PURPOSE OF REVIEW Neurodevelopmental disorders are a group of conditions that affect the development and function of the nervous system, typically arising early in life.
Gutierrez Herrera, Carolina, Tarokh, Leila   +1 more
core   +2 more sources

Journal of Neurodevelopmental Disorders reviewer acknowledgement 2013 [PDF]

, 2013
Contributing reviewers The editors of Journal of Neurodevelopmental Disorders would like to thank all of our reviewers who have contributed to the journal in volume 4 (2012).
Joseph Piven, Piven, Joseph
core   +2 more sources

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Construct validity and reliability of the Dementia Test for People with Intellectual Disability: neuropsychological test battery for assessing cognitive functioning in people with intellectual disability

BJPsych Open
Background People with an intellectual disability are vulnerable to additional disorders such as dementia. Psychometrically sound and specific instruments are needed for assessment of cognitive functioning in cases of suspected dementia.
Tanja Sappok, Miriam Flachsmeyer, Peggy Rösner, Björn Kruse, Sandra-Verena Müller, Daria Tarasova   +5 more
doaj   +1 more source