Lara Cirnigliaro
Biographic Data
| ID | 7960184 |
|---|---|
| NAME | Lara Cirnigliaro |
| GIVEN NAMES | Lara |
| FAMILY NAME | Cirnigliaro |
| SIGNATURE | CIRNIGLIARO L |
| AFFILIATIONS | University of Catania |
| ORCID | 0000-0001-6561-2807 |
| VERIFIED | Yes |
| TOTAL WORKS | 3 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 3 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2024 |
| LATEST PUBLICATION YEAR | 2026 |
| H-INDEX | 0 |
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder
This study identifies shared neurobehavioral features of idiopathic Autism Spectrum Disorder (ASD) associated with de novo LoF mutations in ARHGAP32 and reinforces the involvement of RhoGAP family proteins in neurodevelopmental disorders. Taken together with previous evidence, our data support the role of ARHGAP32 as a candidate gene for ASD, expanding the genetic spectrum
Clinical and Behavioral Correlates of Blood Acylcarnitine Profiles in Children with Autism Spectrum Disorder: A Cross-Sectional Analysis
Background/Objectives : Autism Spectrum Disorder (ASD) etiology is complex, involving genetics and environmental factors, and associated with impaired energy metabolism. Mitochondrial fatty acid oxidation (mFAO) is instrumental to energy production through the oxidation of acylcarnitines (ACs). We performed a comprehensive investigation of blood AC profiles in a pediatric ASD cohort, aiming to define ASD subgroups based on AC profiles and link th…
Head circumference growth in children with Autism Spectrum Disorder: Trend and clinical correlates in the first five years of life
In this study HC size from birth to 5 years links to accelerated HC growth rate as early as the first 6 months of age in children with ASD and macrocephaly, preceding the onset and diagnosis of ASD. We found that in early childhood, children with ASD-M may exhibit some advantages in language and social communication and emotional skills without differences in autism severity, when compared with age-matched normocephalic ASD children. Longitudinal…
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Head circumference growth in children with Autism Spectrum Disorder: Trend and clinical correlates in the first five years of life
In this study HC size from birth to 5 years links to accelerated HC growth rate as early as the first 6 months of age in children with ASD and macrocephaly, preceding the onset and diagnosis of ASD. We found that in early childhood, children with ASD-M may exhibit some advantages in language and social communication and emotional skills without differences in autism severity, when compared with age-matched normocephalic ASD children. Longitudinal…
Clinical and Behavioral Correlates of Blood Acylcarnitine Profiles in Children with Autism Spectrum Disorder: A Cross-Sectional Analysis
Background/Objectives : Autism Spectrum Disorder (ASD) etiology is complex, involving genetics and environmental factors, and associated with impaired energy metabolism. Mitochondrial fatty acid oxidation (mFAO) is instrumental to energy production through the oxidation of acylcarnitines (ACs). We performed a comprehensive investigation of blood AC profiles in a pediatric ASD cohort, aiming to define ASD subgroups based on AC profiles and link th…
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder
This study identifies shared neurobehavioral features of idiopathic Autism Spectrum Disorder (ASD) associated with de novo LoF mutations in ARHGAP32 and reinforces the involvement of RhoGAP family proteins in neurodevelopmental disorders. Taken together with previous evidence, our data support the role of ARHGAP32 as a candidate gene for ASD, expanding the genetic spectrum
Autism (3 works) · Autism spectrum disorder (3 works) · Autism Spectrum Disorder Research (3 works) · Genetics and Neurodevelopmental Disorders (2 works) · Medicine (2 works) · Pediatrics (2 works) · Psychiatry (2 works) · Audiology (1 works) · Autism Diagnostic Observation Schedule (1 works) · Biochemical Analysis and Sensing Techniques (1 works)