Rocío Martínez-Regueiro

Rocío Martínez-Regueiro
University of Santiago de Compostela | USC · Departamento de Psicología Clínica y Psicobiología

PhD in Neuroscience and Clinical Psychology

About

13
Publications
2,847
Reads
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97
Citations
Citations since 2017
5 Research Items
75 Citations
20172018201920202021202220230510152025
20172018201920202021202220230510152025
20172018201920202021202220230510152025
20172018201920202021202220230510152025
Additional affiliations
October 2012 - July 2015
Genomic Medicine Group
Genomic Medicine Group
Position
  • PhD Student

Publications

Publications (13)
Article
Full-text available
De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs) in a Spanish ASD cohort (360 trios) and to explore their role across different bi...
Article
Full-text available
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction, executive functioning, sensory-perceptual abilities and behaviour, such as anxious/depressed states, attention problems, aggression, or somatic complains. However, the dynamic relationship between these dimensions remains to be addres...
Article
Full-text available
SCA36 is an autosomal dominant spinocerebellar ataxia (SCA) affecting many families from Costa da Morte, a northwestern region of Spain. It is caused by an intronic GGCCTG repeat expansion in NOP56. In order to characterize the cognitive and affective manifestations of this cerebellar disease, a group of 30 SCA36 mutation carriers (11 preataxic and...
Preprint
Full-text available
De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs) in a Spanish ASD cohort (360 trios) and to explore their role across different bi...
Article
Full-text available
Abnormal patterns of touch processing have been linked to core symptoms in ASD. This study examined the relation between tactile processing patterns and social problems in 44 children and adolescents with ASD, aged 6-14 (M = 8.39 ± 2.35). Multiple linear regression indicated significant associations between touch processing and social problems. No...
Article
Full-text available
Background: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. This study was aimed at analyzing the ne...
Conference Paper
Full-text available
A pesar de la reciente incorporación del constructo Trastornos del Espectro Autista, numerosos autores señalan la necesidad de encontrar marcadores que en el campo de la investigación permitan delimitar subgrupos dentro de los TEA (Lai et al; 2013; Kaland, 2011). Uno de los argumentos a favor de esta necesidad es la singularidad del perfil lingüíst...
Article
The few proximal 4q chromosomal aberrations identified in patients with neurodevelopmental phenotypes that have been published to date are variable in type, size and breakpoints and, therefore, encompass different chromosome bands and genes, making the establishment of genotype-phenotype correlations a challenging task. Here, microarray-based copy...
Article
Full-text available
Objectives: Genetic syndromes with distinctive cognitive and behavioural phenotypes — such as Smith–Magenis syndrome (SMS) and Williams syndrome (WS) — offer unique opportunities to explore the links between specific genes and neurodevelopmental disorders. While some studies have reported the occurrence of autistic symptoms in SMS, evidence for suc...
Article
Williams syndrome is characterized by impairments in executive functions (EFs). However, it remains unknown how distinct types of EFs relate to intelligence in this syndrome. The present study analyzed performance on working memory, inhibiting and shifting, and its links to IQ in a sample of 17 individuals with WS, and compared them with a group of...

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