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View article: Exploring a Circulating <scp>miRNA</scp> Signature for <scp>PMM2</scp> ‐ <scp>CDG</scp> : Initial Insights Toward Diagnosis, Stratification, and Monitoring
Exploring a Circulating <span>miRNA</span> Signature for <span>PMM2</span> ‐ <span>CDG</span> : Initial Insights Toward Diagnosis, Stratification, and Monitoring Open
Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Alth…
View article: PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration
PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration Open
PPM1D is a phosphatase that regulates the DNA damage response (DDR) by dephosphorylating some of its key players, including p53 and gH2AX. Inborn errors of immunity (IEI) with altered DDR have been associated with natural killer (NK) cell …
View article: MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables
MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables Open
Background: MECP2 duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables,…
View article: Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development Open
Our findings show a link between the genetic-biochemical basis and the neuroimaging features and aid in better understanding the underlying clinical manifestations and possible treatment options. These findings have yet to be described to …
View article: Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): study protocol for a pragmatic randomized controlled trial
Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): study protocol for a pragmatic randomized controlled trial Open
View article: Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): Study protocol for a pragmatic randomized controlled trial
Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): Study protocol for a pragmatic randomized controlled trial Open
Background:Children with genetic conditions are at increased risk for mental health and neurodevelopmental problems, often accompanied by significant parental distress. Genetic and family factors can impact children and parents’ mental hea…
View article: Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study Open
View article: Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study Open
Phosphomannomutase deficiency (PMM2-CDG) causes cerebellar atrophy and presents with ataxia, dysmetria, and intellectual deficits. Despite ongoing therapy development and clinical trials, limited knowledge exists regarding the cognitive an…
View article: Postnatal microcephaly and retinal involvement expand the phenotype of <scp><i>RPL10</i></scp>‐related disorder
Postnatal microcephaly and retinal involvement expand the phenotype of <span><i>RPL10</i></span>‐related disorder Open
Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X‐linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenita…
View article: CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings Open
The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symp…
View article: Table of Contents, Volume 182A, Number 1, January 2020
Table of Contents, Volume 182A, Number 1, January 2020 Open