Clinical and biological progress over 50 years in Rett syndrome
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …
Rett syndrome: crossing the threshold to clinical translation
DM Katz, A Bird, M Coenraads, SJ Gray… - Trends in …, 2016 - cell.com
Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has
garnered intense interest in recent years, not only from a broad range of academic scientists …
garnered intense interest in recent years, not only from a broad range of academic scientists …
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
VA Cuddapah, RB Pillai, KV Shekar, JB Lane… - Journal of medical …, 2014 - jmg.bmj.com
Background Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls,
is characterised by a period of apparently normal development until 6–18 months of age …
is characterised by a period of apparently normal development until 6–18 months of age …
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
JL Neul, P Fang, J Barrish, J Lane, EB Caeg… - Neurology, 2008 - AAN Enterprises
Objective: To determine if a relationship exists between the clinical features of Rett
syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in …
syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in …
FOXG1 is responsible for the congenital variant of Rett syndrome
F Ariani, G Hayek, D Rondinella, R Artuso… - The American Journal of …, 2008 - cell.com
Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked
gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification …
gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification …
Investigating genotype–phenotype relationships in Rett syndrome using an international data set
A Bebbington, A Anderson, D Ravine, S Fyfe… - Neurology, 2008 - AAN Enterprises
Background: Rett syndrome is an uncommon neurodevelopmental disorder with an
incidence of 1: 9,000 live female births. The principal genetic cause was first reported in …
incidence of 1: 9,000 live female births. The principal genetic cause was first reported in …
Rett syndrome and MeCP2: linking epigenetics and neuronal function
MD Shahbazian, HY Zoghbi - The American Journal of Human Genetics, 2002 - cell.com
Rett syndrome (RTT [MIM# 312750]) was discovered when two girls who exhibited the same
unusual behaviors happened to be seated next to each other in the waiting room of Andreas …
unusual behaviors happened to be seated next to each other in the waiting room of Andreas …
Rett syndrome: a prototypical neurodevelopmental disorder
Rett syndrome, one of the leading causes of mental retardation and developmental
regression in girls, is the first pervasive developmental disorder with a known genetic cause …
regression in girls, is the first pervasive developmental disorder with a known genetic cause …
Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome
C Schanen, EJF Houwink, N Dorrani… - American Journal of …, 2004 - Wiley Online Library
Since the identification of mutations in MECP2 in girls and women with apparent Rett
syndrome, numerous efforts have been made to develop phenotype‐genotype correlations …
syndrome, numerous efforts have been made to develop phenotype‐genotype correlations …
Rett syndrome: north American database
AK Percy, JB Lane, J Childers… - Journal of child …, 2007 - journals.sagepub.com
The International Rett Syndrome Association (IRSA) North American database is the first
comprehensive compilation of information in the United States and Canada on individuals …
comprehensive compilation of information in the United States and Canada on individuals …