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) …
The utility of DXA assessment at the forearm, proximal femur, and lateral distal femur, and vertebral fracture assessment in the pediatric population: 2019 ISCD official …
Dual-energy X-ray absorptiometry (DXA) is widely used in the evaluation of bone fragility in
children. Previous recommendations emphasized total body less head and lumbar spine …
children. Previous recommendations emphasized total body less head and lumbar spine …
[HTML][HTML] Consensus guidelines on managing Rett syndrome across the lifespan
C Fu, D Armstrong, E Marsh, D Lieberman… - BMJ paediatrics …, 2020 - ncbi.nlm.nih.gov
Background Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex
medical comorbidities extending beyond the nervous system requiring the attention of health …
medical comorbidities extending beyond the nervous system requiring the attention of health …
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
KJ Motil, E Caeg, JO Barrish, S Geerts… - Journal of pediatric …, 2012 - journals.lww.com
Objective: We conducted a nationwide survey to determine the prevalence of common
gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental …
gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental …
Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes
PD Ross, J Guy, J Selfridge, B Kamal… - Human molecular …, 2016 - academic.oup.com
Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked
MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in …
MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in …
The trajectories of sleep disturbances in Rett syndrome
Rett syndrome is a rare neurodevelopmental disorder usually affecting females, and is
associated with a mutation in the MECP 2 gene. Sleep problems occur commonly and we …
associated with a mutation in the MECP 2 gene. Sleep problems occur commonly and we …
Rett syndrome and epilepsy: an update for child neurologists
A Dolce, B Ben-Zeev, S Naidu, EH Kossoff - Pediatric neurology, 2013 - Elsevier
Rett syndrome, a neurogenetic disorder predominantly affecting females, has many
characteristic features including psychomotor retardation, impaired language development …
characteristic features including psychomotor retardation, impaired language development …
The natural history of scoliosis in females with Rett syndrome
Study Design. Population-based longitudinal observational study. Objective. To describe the
prevalence of scoliosis in Rett syndrome, structural characteristics and progression, taking …
prevalence of scoliosis in Rett syndrome, structural characteristics and progression, taking …
Linking MECP2 and pain sensitivity: The example of Rett syndrome
J Downs, SM Géranton, A Bebbington… - American journal of …, 2010 - Wiley Online Library
Recent animal studies suggest links between MeCP2 function and sensitivity to pain. This
study investigated the nature and prevalence of atypical pain responses in Rett syndrome …
study investigated the nature and prevalence of atypical pain responses in Rett syndrome …
Methodological standards and interpretation of video‐electroencephalography in adult control rodents. A TASK 1‐WG 1 report of the AES/ILAE Translational Task …
SD Kadam, R D'Ambrosio, V Duveau, C Roucard… - …, 2017 - Wiley Online Library
In vivo electrophysiological recordings are widely used in neuroscience research, and video‐
electroencephalography (vEEG) has become a mainstay of preclinical neuroscience …
electroencephalography (vEEG) has become a mainstay of preclinical neuroscience …