Bibliotecas PUC-SP - Busca Integrada

24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue...

Por Silvia Leoncini, Silvia Leoncini, Silvia Leoncini, Lidia Boasiako, Lidia Boasiako, Sofia Di Lucia, Amir Beker, Valeria Scandurra, Aglaia Vignoli, Maria Paola Canevini, Giulia Prato, Lino Nobili, Lino Nobili, Antonio Gennaro Nicotera, Gabriella Di Rosa, Gabriella Di Rosa, Maria Beatrice Testa Chiarini, Renato Cutrera, Salvatore Grosso, Salvatore Grosso, Giacomo Lazzeri, Giacomo Lazzeri, Enrico Tongiorgi, Pasquale Morano, Matteo Botteghi, Matteo Botteghi, Alessandro Barducci, Claudio De Felice, Claudio De Felice, Claudio De Felice
Publicado no Frontiers in Neurology (2024-06-01)

5-HT_1A Receptor Agonist Treatment Partially Ameliorates Rett Syndrome Phenotypes in <i>mecp2</i>-Null Mice by Rescuing Impairment of Neuron Transmission and the CREB/BDN...

Por Hongmei Dai, Yoshikazu Kitami, Yu-ichi Goto, Masayuki Itoh
Publicado no International Journal of Molecular Sciences (2022-11-01)

<i>FOXG1</i>-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

Por Lee-Chin Wong, Shekhar Singh, Hsin-Pei Wang, Chia-Jui Hsu, Su-Ching Hu, Wang-Tso Lee
Publicado no International Journal of Molecular Sciences (2019-08-01)

<i>MECP2</i>-Related Disorders in Males

Por Ainhoa Pascual-Alonso, Antonio F. Martínez-Monseny, Clara Xiol, Judith Armstrong
Publicado no International Journal of Molecular Sciences (2021-09-01)

<it>CDKL5</it> gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

Por Maortua Hiart, Martínez-Bouzas Cristina, Calvo María-Teresa, Domingo Maria-Rosario, Ramos Feliciano, García-Ribes Ainhoa, Martínez María-Jesús, López-Aríztegui María-Asunción, Puente Nerea, Rubio Izaskun, Tejada María-Isabel
Publicado no BMC Medical Genetics (2012-08-01)

Advanced genetic therapies for the treatment of Rett syndrome: state of the art and future perspectives

Por Michela Palmieri, Diego Pozzer, Nicoletta Landsberger, Nicoletta Landsberger
Publicado no Frontiers in Neuroscience (2023-05-01)

Advances in the pathogenesis of Rett syndrome using cell models

Por Sijia Lu, Yongchang Chen, Zhengbo Wang
Publicado no Animal Models and Experimental Medicine (2022-12-01)

Advances on Scoliogeny, Diagnosis and Management of Scoliosis and Spinal Disorders

Publicado em 2022

Alterations of cortical and hippocampal EEG activity in MeCP2-deficient mice

Por Jennifer Anne D'Cruz, Chiping Wu, Tariq Zahid, Youssef El-Hayek, Liang Zhang, James H. Eubanks
Publicado no Neurobiology of Disease (2010-04-01)

Altered dendritic morphology of MEC II pyramidal and stellate cells in Rett syndrome mice

Por Manigandan Krishnan, Ayishal B. Mydeen, Mohammed M. Nakhal, Marwa F. Ibrahim, Richard L. Jayaraj, Milos R. Ljubisavljevic, Mohammad I. K. Hamad, Fatima Y. Ismail, Fatima Y. Ismail
Publicado no Frontiers in Neuroanatomy (2025-06-01)

The Amazing World of IDPs in Human Diseases

Publicado em 2021

An ambulatory dental treatment of a child with Rett syndrome and limited mouth opening under muscle relaxant-free general anesthesia: a case report

Por Xiao Tan, Bo Zhu, Yanchen Li, Yuguang Huang
Publicado no BMC Anesthesiology (2024-01-01)

Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome

Por Yann Ehinger, Valerie Matagne, Valérie Cunin, Emilie Borloz, Michel Seve, Sandrine Bourgoin-Voillard, Ana Borges-Correia, Laurent Villard, Jean-Christophe Roux
Publicado no International Journal of Molecular Sciences (2021-04-01)

Analysis of genetic characteristics in four children with atypical Rett syndrome and developmental epileptic encephalopathy caused by IQSEC2 gene variation

Por LIN Li, CUI Zhen-zhen, HE Fan, ZHAO Xiao-ling, JIN Dan-qun, YANG Bin
Publicado no Chinese Journal of Contemporary Neurology and Neurosurgery (2024-08-01)

Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome

Por Edilene Siqueira, Aida Obiols-Guardia, Olga C. Jorge-Torres, Cristina Oliveira-Mateos, Marta Soler, Deepthi Ramesh-Kumar, Fernando Setién, Daniëlle van Rossum, Ainhoa Pascual-Alonso, Clara Xiol, Cristina Ivan, Masayoshi Shimizu, Judith Armstrong, George A. Calin, R. Jeroen Pasterkamp, Manel Esteller, Sonia Guil
Publicado no Molecular Therapy: Nucleic Acids (2022-03-01)

Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Por Xiaolan Fang, Kameryn M. Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C. Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D. Marsh, Tim A. Benke, Steve Skinner, Jeffrey L. Neul, Alan K. Percy, Michael J. Friez, Raymond C. Caylor
Publicado no Molecular Genetics & Genomic Medicine (2022-05-01)

Anesthetic management of a Rett syndrome patient with apnea and epilepsy: a case report

Por Yuka Motomura, Masafumi Idei, Hitoshi Sato, Takahisa Goto
Publicado no JA Clinical Reports (2018-04-01)

Anesthetic management of an adult patient with Rett syndrome and limited mouth opening -A case report-

Por Ji-Sung Nho, Dong-Shik Shin, Jee-Youn Moon, Jae-Woo Yi, Jong-Man Kang, Bong-Jae Lee, Dong-Ok Kim, Jun-Young Chung
Publicado no Korean Journal of Anesthesiology (2011-11-01)

Anesthetic management of percutaneous nephrolithotripsy in an 11 year old girl with Rett Syndrome: a case report

Por R. N. Naghiyev, F. A. Ahmadov, E. M. Nasibova
Publicado no Pediatric Anesthesia and Critical Care Journal (PACCJ) (2025-08-01)

Animal models of intellectual disability: towards a translational approach

Por Scorza, Carla A., Cavalheiro, Esper A.
Publicado no Clinics (2011)