Results 161 to 170 of about 2,462,658 (261)

Phenotypic and Genotypic Analysis of RETT Syndrome [PDF]

, 2006
4
Kárteszi Judit
core  

How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

Psychiatry and Clinical Neurosciences, Volume 80, Issue 3, Page 166-179, March 2026.
Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang, Kubra Trabzonlu, Emily Fullard Jones, Yasir Ahmed Syed   +3 more
wiley   +1 more source

Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations

Stem Cell Research
Rett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) lines derived from four Japanese female patients with Rett ...
Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma, Tadashi Shiohama, Yohei Hayashi   +12 more
doaj   +1 more source

Rett Syndrome

Pediatric Neurology Briefs, 1988
The case-histories of 7 girls and 1 woman, 2 to 25 years of age, are reported from the Clinical Genetics and Child Developmental Center, Department of Maternal and Child Health, Dartmouth Medical School, Hanover, NH.
openaire   +7 more sources

Effects of Immersive Virtual Reality with Treadmill in Subjects with Rett Syndrome: A Pilot Study

Children
Background/Objectives: Rett syndrome is a rare neurodevelopmental disorder that can severely affect motor functioning, particularly walking. Previous training programs proposed treadmills as tools to increase walking endurance of patients with Rett ...
Daniele Panzeri, Michela Perina, Emilia Biffi, Martina Semino, Eleonora Diella, Tindara Caprì   +5 more
doaj   +1 more source

Erratum: Rett Syndrome [PDF]

Neuropediatrics, 2018
openaire   +2 more sources

Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1. [PDF]

Stem Cell Reports
Morales A, Korsakova E, Mansooralavi N, Ravikumar A, Rivas G, Soliman P, Rodriguez L, Galvan C, McDaniel T, Lund A, Cooper B, Bhaduri A, Lowry WE.   +12 more
europepmc   +2 more sources

Rett Syndrome

Neuropediatrics, 2017
openaire   +3 more sources

Disease-modifying therapies for Rett syndrome: a review for neurologists. [PDF]

Front Neurol
Samanta D.
europepmc   +1 more source

Development and Validation of the Korean Version of the Rett Syndrome Behavioral Questionnaire. [PDF]

Children (Basel)
Yi YG, Yang S, Kim GH, Han Y, Jang DH.
europepmc   +1 more source