Results 51 to 60 of about 241,752 (284)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Outcome measures in Angelman syndrome

Journal of Neurodevelopmental Disorders
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and ...
Doesjka A. Hagenaar, Karen G. C. B. Bindels-de Heus, Maud M. van Gils, Louise van den Berg, Leontine W. ten Hoopen, Philine Affourtit, Johan J. M. Pel, Koen F. M. Joosten, Manon H. J. Hillegers, Henriëtte A. Moll, Marie-Claire Y. de Wit, Gwen C. Dieleman, Sabine E. Mous   +12 more
doaj   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Implications of virus-induced stress granules in tauopathies

Translational Neurodegeneration
Tauopathies are characterized by aberrant tau structure and function, which is associated with neurodegenerative dementias, such as Alzheimer’s disease, Pick’s disease, and frontotemporal dementia, as well as the motor neuron disease amyotrophic lateral ...
Snigdda Sharma, Alex Vandenakker, Claudia Cortés-Pérez, Sarah Milne, Renée N. Douville   +4 more
doaj   +1 more source

Metformin treatment in young children with fragile X syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Metformin is a drug commonly used in individuals with type 2 diabetes, obesity, and impaired glucose tolerance. It has a strong safety profile in both children and adults.
Hazel Maridith B. Biag, Laura A. Potter, Victoria Wilkins, Sumra Afzal, Alexis Rosvall, Maria Jimena Salcedo‐Arellano, Akash Rajaratnam, Ramiro Manzano‐Nunez, Andrea Schneider, Flora Tassone, Susan M. Rivera, Randi J. Hagerman   +11 more
doaj   +1 more source

Behavioral and biological divergence in monozygotic twin pairs discordant for autism phenotypes: A systematic review

JCPP Advances, 2021
Background Non‐shared environment (NSE) effects account for around one‐third of the etiology of autism spectrum disorder (ASD). However, the knowledge of mechanisms and phenotypic profiles associated with NSE in ASD is scarce. Methods A systematic search
Lynnea Myers, Pei‐Yin Pan, Karl Lundin Remnélius, Janina Neufeld, Peter B. Marschik, Ulf Jonsson, Sven Bölte   +6 more
doaj   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model

Annals of Clinical and Translational Neurology, 2019
Objective An epilepsy mouse model for Tuberous Sclerosis Complex (TSC) was developed and validated to investigate the mechanisms underlying epileptogenesis. Furthermore, the possible antiepileptogenic properties of commonly used antiepileptic drugs (AEDs)
Linda M. C. Koene, Saskia E. vanGrondelle, Martina Proietti Onori, Ilse Wallaard, Nathalie H. R. M. Kooijman, Annabel vanOort, Jadwiga Schreiber, Ype Elgersma   +7 more
doaj   +1 more source

Modeling the functional genomics of autism using human neurons. [PDF]

, 2012
Human neural progenitors from a variety of sources present new opportunities to model aspects of human neuropsychiatric disease in vitro. Such in vitro models provide the advantages of a human genetic background combined with rapid and easy manipulation,
Chen, L, Gao, F, Gao, K, Geschwind, DH, Konopka, G, Lowe, JK, Lu, D, Mukamel, Z, Osborn, GE, Rosen, E, Wexler, E   +10 more
core   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source