Results 261 to 270 of about 2,296,312 (307)
A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndrome. [PDF]
J Neurodev DisordCampbell K +11 more
europepmc +1 more source
Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome
Nature, 2021 Huda Y Zoghbi
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Pediatrics, 1989
Recent case reports of Rett syndrome should help pediatricians recognize this important syndrome. Since the article by Moeschler et al was submitted for publication, new diagnostic criteria for Rett syndrome have been developed and published by a 41-member Rett syndrome Diagnostic Criteria Work Group representing the Centers for Disease Control and the
Katherine Stewart +3 more
+10 more sources
Recent case reports of Rett syndrome should help pediatricians recognize this important syndrome. Since the article by Moeschler et al was submitted for publication, new diagnostic criteria for Rett syndrome have been developed and published by a 41-member Rett syndrome Diagnostic Criteria Work Group representing the Centers for Disease Control and the
Katherine Stewart +3 more
+10 more sources
The Indian Journal of Pediatrics, 2000
Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.
M, Ghofrani, T, Mahmoodian
openaire +2 more sources
Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.
M, Ghofrani, T, Mahmoodian
openaire +2 more sources
Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing
Nature Neuroscience, 2018 In females with X-linked genetic disorders, wild-type and mutant cells coexist within brain tissue because of X-chromosome inactivation, posing challenges for interpreting the effects of X-linked mutant alleles on gene expression.
William Renthal +2 more
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Current Opinion in Neurology, 1995
Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations ...
openaire +2 more sources
Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations ...
openaire +2 more sources
Child and Adolescent Psychiatric Clinics of North America, 2007
Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. Different mutations in MECP2 are found in up to 95% of typical cases of RS. This mainly neuronal expressed gene functions as a major transcription repressor. Extensive studies on girls who have RS and mouse models are
openaire +2 more sources
Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. Different mutations in MECP2 are found in up to 95% of typical cases of RS. This mainly neuronal expressed gene functions as a major transcription repressor. Extensive studies on girls who have RS and mouse models are
openaire +2 more sources