Accès ouvert
2026
article
OpenAlex
Ludovica Soldateschi, Silvia Leoncini, Fabio Fiorino, Simone Lucchesi et autres
Rett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin characterized by chronic low-grade inflammation, immune imbalance, and frequently associated with compromised respiratory function. During the COVID-19 pandemic, individuals with RTT were classified as high-risk and invited to follow stringent vaccination …
it
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Ludovica Soldateschi, Silvia Leoncini, Fabio Fiorino, Simone Lucchesi et autres
Rett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin characterized by chronic low-grade inflammation, immune imbalance, and frequently associated with compromised respiratory function. During the COVID-19 pandemic, individuals with RTT were classified as high-risk and invited to follow stringent vaccination …
Accès ouvert
2026
article
OpenAlex
Ludovica Soldateschi, Silvia Leoncini, Fabio Fiorino, Simone Lucchesi et autres
Rett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin characterized by chronic low-grade inflammation, immune imbalance, and frequently associated with compromised respiratory function. During the COVID-19 pandemic, individuals with RTT were classified as high-risk and invited to follow stringent vaccination …
Accès ouvert
2024
article
OpenAlex
Silvia Leoncini, Lidia Boasiako, Sofia Di Lucia, Amir Beker et autres
Background Sleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 ( MECP2 ) gene. Autonomic nervous system dysfunction with a …
it
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Silvia Leoncini, Lidia Boasiako, Diego Lopergolo, Maria Altamura et autres
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) …
it
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Accès ouvert
2022
article
OpenAlex
Silvia Leoncini, Cinzia Signorini, Lidia Boasiako, Valeria Scandurra et autres
Background Breathing abnormalities are common in Rett syndrome (RTT), a pervasive neurodevelopmental disorder almost exclusively affecting females. RTT is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Our aim was to assess the clinical relevance of apneas during sleep-wakefulness cycle …
it
(code pays fourni par la source)