Results 21 to 30 of about 18,028 (242)

Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

The Scientific World Journal, 2006
Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome.
Meir Lotan, Bruria Ben-Zeev
doaj   +1 more source

Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research

Frontiers in Integrative Neuroscience, 2020
Rett syndrome is a debilitating neurodevelopmental disorder for which no disease-modifying treatment is available. Fortunately, advances in our understanding of the genetics and pathophysiology of Rett syndrome has led to the development of promising new
Joni N. Saby, Sarika U. Peters, Timothy P. L. Roberts, Timothy P. L. Roberts, Charles A. Nelson, Eric D. Marsh, Eric D. Marsh   +6 more
doaj   +1 more source

R306X Mutation in the Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report

Clinical Pathology, 2022
Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features.
Wafaa Bouzroud, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, Hind Dehbi   +4 more
doaj   +1 more source

Rett Syndrome. Guidelines for Individual Intervention

The Scientific World Journal, 2006
Rett syndrome (RS) is a neurological disorder affecting mainly females. RS is considered the second most frequent cause for severe and complex neurological dysfunction in females after Down syndrome.
Meir Lotan
doaj   +1 more source

Feasibility of wearable devices and machine learning for sleep classification in children with Rett syndrome: A pilot study

Digital Health, 2023
Sleep is vital to many processes involved in the well-being and health of children; however, it is estimated that 80% of children with Rett syndrome suffer from sleep disorders.
Miroslava Migovich, Akshith Ullal, Cary Fu, Sarika U Peters, Nilanjan Sarkar   +4 more
doaj   +1 more source

Disease modelling of a human neurodevelopmental disorder using mouse embryonic stem cells [PDF]

, 2011
As cultured embryonic stem (ES) cells can be differentiated in neurons under well-defined conditions, they provide a unique opportunity to model and study diseases of the nervous system such as Rett syndrome.
Yazdani Shektaei, Morteza
core   +1 more source

Osteoporosis in Rett Syndrome: A Study on Normal Values

The Scientific World Journal, 2006
Osteoporosis is the reduction of calcium density in bones, usually evident in postmenopausal females, yet the tendency for osteoporosis can also be identified at a young age, especially in patients with chronic diseases, disabilities, and on chronic ...
Lilit Zysman, Meir Lotan, Bruria Ben-Zeev   +2 more
doaj   +1 more source

Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome

iScience, 2022
Summary: MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome of
Stephanie A. Zlatic, Duc Duong, Kamal K.E. Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J. Fink, Omar Khwaja, Lindsay C. Swanson, Mustafa Sahin, Sruti Rayaprolu, Prateek Kumar, Srikant Rangaraju, Adrian Bird, Daniel Tarquinio, Randall Carpenter, Stuart Cobb, Victor Faundez   +17 more
doaj   +1 more source

Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies [PDF]

, 2011
Methyl CpG binding protein 2 (MeCP2) binds DNA, and has a preference for methylated CpGs and, hence, in cells, it accumulates in heterochromatin. Even though it is expressed ubiquitously MeCP2 is particularly important during neuronal maturation. This is
Rottach Andrea, Jost, K.L., Becker, Annette, Andrea Rottach, Leonhardt, Heinrich, Becker, A., Manel Esteller, Esteller, Manel, K Laurence Jost, Wolf, P., Jost K. Laurence, Wolf, Patricia, Cardoso, M. Cristina, Leonhardt Heinrich, Paolo Petazzi, Huertas Dori, Annette Becker, Cardoso M. Cristina, Patricia Wolf, Milden Manuela, Wolf Patricia, Esteller Manel, K. Laurence Jost, Bertulat Bianca, Dori Huertas, Milden, M., Huertas, D., Juan Sandoval, Bianca Bertulat, Sandoval, Juan, M. Cristina Cardoso, Bertulat, B., Kremmer Elisabeth, Petazzi Paolo, Milden, Manuela, Huertas, Dori, Becker Annette, Rottach, A., Jost, K. Laurence, Sandoval, J., Esteller, M., Kremmer, E., Manuela Milden, Kremmer, Elisabeth, Cardoso, M.C., Heinrich Leonhardt, Sandoval Juan, Petazzi, Paolo, Petazzi, P., M Cristina Cardoso, Bertulat, Bianca, Rottach, Andrea, Elisabeth Kremmer, Leonhardt, H.   +53 more
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Breathing Abnormalities During Sleep and Wakefulness in Rett Syndrome: Clinical Relevance and Paradoxical Relationship With Circulating Pro-oxidant Markers

Frontiers in Neurology, 2022
BackgroundBreathing abnormalities are common in Rett syndrome (RTT), a pervasive neurodevelopmental disorder almost exclusively affecting females. RTT is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene.
Silvia Leoncini, Silvia Leoncini, Cinzia Signorini, Lidia Boasiako, Lidia Boasiako, Valeria Scandurra, Joussef Hayek, Lucia Ciccoli, Marcello Rossi, Roberto Canitano, Claudio De Felice, Claudio De Felice   +11 more
doaj   +1 more source