Results 121 to 130 of about 3,757,153 (283)
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
More excitation for Rett syndrome
, 2017 D-cycloserine ameliorates breathing abnormalities and survival rate in a mouse model of Rett syndrome.
Novarino, Gaia ; https://orcid.org/ +1 more
core +1 more source
Polysomnographic findings in Rett syndrome.
European journal of paediatric neurology, 2019 INTRODUCTION Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG)
A. Amaddeo +5 more
semanticscholar +1 more source
OxInflammation in Rett syndrome
The International Journal of Biochemistry & Cell Biology, 2016 Rett syndrome (RTT) is an orphan progressive neurodevelopmental disease affecting almost exclusively females (frequency 1:10,000). RTT clinical expression is typically characterized by loss of purposeful hand movements, severe mental retardation and motor impairment, breathing disorders, ataxia and increased risk of sudden death.
PECORELLI, Alessandra +3 more
openaire +3 more sources
ANZ Journal of Surgery, EarlyView.ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham +4 more
wiley +1 more source
MECP2 and Associated Rett syndrome pathway WP3584
, 2019 Pathway from WikiPathways WP3584-97933 - MECP2 and Associated Rett syndrome(Test pathway)
Friederike Ehrhart (1376496)
core +1 more source
RettBASE: Rett syndrome database update
Human Mutation, 2017 Rett syndrome (RTT) is an X‐linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of RTT.
Rahul Krishnaraj +2 more
semanticscholar +1 more source
Child &Family Social Work, EarlyView.ABSTRACT Chinese caregivers of autistic children report heightened parental stress, which in turn can negatively influence their family quality of life (FQoL). To better support the quality of life of Chinese caregivers of autistic children, the present study investigated the relationship between parental stress and FQoL and the moderating roles of ...
Wing‐Chee So +4 more
wiley +1 more source
The Nutritional Aspects of Rett Syndrome
, 1988 Nutrition is a major problem for the Rett patient. We have studied 21 girls with Rett syndrome (19 typical, two atypical). We report our experience in this population with the nutritional aspects of Rett syndrome, the typical dietary habits, and various ...
Marylynne A. Rice, Richard H. Haas
core +1 more source
Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome
Egyptian Pediatric Association Gazette, 2015 Background: Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation. Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are ...
Hisham Megahed +2 more
doaj +1 more source