Results 91 to 100 of about 2,296,312 (307)

Long-term home cage activity scans reveal lowered exploratory behaviour in symptomatic female Rett mice [PDF]

, 2013
<p>Numerous experimental models have been developed to reiterate endophenotypes of Rett syndrome, a neurodevelopmental disorder with a multitude of motor, cognitive and vegetative symptoms. Here, female Mecp2Stop mice [1] were characterised at mild
Abdala, Adachi, Alvarez-Saavedra, Alvarez-Saavedra, Amir, Andrea Plano, Bissonette, Bissonette, Bissonette, Blardi, Caeyenberghs, Chahrour, Chao, Chen, De Filippis, De Filippis, De Filippis, de Visser, Edelsbrunner, Fyffe, Gemelli, Gernot Riedel, Giacometti, Glaze, Gotoh, Guy, Guy, Hagberg, Hagberg, Jugloff, Kazlaukas, Kerr, Kondo, Langthorne, LaSalle, Lianne Robinson, Lonetti, McGill, Moretti, Motulsky, Mount, Murakami, Nagarajan, Niedermeyer, Niedermeyer, Nomura, Pelka, Piazza, Pilcová, Plomin, Pratte, Reiss, Ricceri, Riedel, Robinson, Samaco, Samaco, Santos, Saywell, Shahbazian, Stearns, Stuart Cobb, Theander-Carrillo, Watson, Young, Young, Zappella   +66 more
core   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials

Brain Sciences
Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of ...
Adele Gaspar Lopes, Sampath Kumar Loganathan, Jayalakshmi Caliaperumal   +2 more
doaj   +1 more source

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Orphanet Journal of Rare Diseases
Background Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers.
Walter E. Kaufmann, Alan K. Percy, Jeffrey L. Neul, Jenny Downs, Helen Leonard, Paige Nues, Girish D. Sharma, Theresa E. Bartolotta, Gillian S. Townend, Leopold M. G. Curfs, Orietta Mariotti, Claude Buda, Heather M. O’Leary, Lindsay M. Oberman, Vanessa Vogel-Farley, Katherine V. Barnes, Christopher U. Missling   +16 more
doaj   +1 more source

Interview with Huda Zoghbi [PDF]

, 2016
An oral history interview with Dr. Huda Zoghbi about her career at Baylor College of Medicine in the Texas Medical Center. She worked as a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor ...
Zoghbi, Huda, MD
core   +1 more source

Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus [PDF]

, 1996
The methyl-CpG binding domain (MBD) proteins are key molecules in the interpretation of DNA methylation signals leading to gene silencing. We investigated their binding specificity at the constitutively methylated region of a CpG island containing the ...
Auriol, Emilie, Billard, Lise-Marie, Magdinier, Frédérique, Dante, Robert   +3 more
core   +2 more sources

Systematic review: Safety and efficacy of atomoxetine in children and adolescents with autism spectrum disorder

JCPP Advances, EarlyView.
This systematic review aimed to assess the current evidence on the efficacy and safety of Atomoxetine in common clinical symptoms of autism spectrum disorder (ASD) for children and adolescents. With limited studies available, there is a need for more high‐power studies for the use of Atomoxetine in children and adolescents with autism spectrum disorder.
Nihit Gupta, Daniel Boyes, Hunter Hanlon‐Taylor, Mayank Gupta   +3 more
wiley   +1 more source

Epilepsy and genetic in Rett syndrome: A review

Brain and Behavior, 2019
Rett syndrome (RTT) is a severe X‐linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000–20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6–12 months ...
F. Operto, Roberta Mazza, G. Pastorino, A. Verrotti, G. Coppola   +4 more
semanticscholar   +1 more source

Differential diagnosis of Rett and Angelman syndromes: final diagnosis of a case using genetic analysis

Psychiatry and Clinical Psychopharmacology, 2021
The purpose of this article is to review the diagnostic procedures and genetic analysis in making differential diagnosis of a case having similar symptoms of Rett and Angelman syndromes.
Tümer Türkbay, Davut Gül, Teoman Söhmen   +2 more
doaj