Amalia Mir-Martinez
Sevilla, AN 41013, Spain
Last Updated: 09/26/2026
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Found 16 publications
Impaired synaptic plasticity in behaving mice by inactivation of presenilin and accumulation of the neurexin gamma-secretase proteolytic substrate.
Journal: Experimental neurology
Published: January 15, 2025
Analysis of neurexin-neuroligin complexes supports an isoform-specific role for beta-neurexin-1 dysfunction in a mouse model of autism.
Journal: Molecular brain
Published: November 19, 2024
Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.
Journal: European child & adolescent psychiatry
Published: November 18, 2023
A Neuroligin-1 mutation associated with Alzheimer's disease produces memory and age-dependent impairments in hippocampal plasticity.
Journal: iScience
Published: December 12, 2022
Selective expression of the neurexin substrate for presenilin in the adult forebrain causes deficits in associative memory and presynaptic plasticity.
Journal: Experimental neurology
Published: July 02, 2021
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Journal: Neuromuscular disorders : NMD
Published: May 29, 2018
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: May 18, 2017
Lack of replication of previous autism spectrum disorder GWAS hits in European populations.
Journal: Autism research : official journal of the International Society for Autism Research
Published: March 30, 2016
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 04, 2016
A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function.
Journal: Neurobiology of aging
Published: June 26, 2015
Genetic study of NRXN1β variants in Spanish patients with schizophrenia.
Journal: Schizophrenia research
Published: June 06, 2014
Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses.
Journal: Psychiatric genetics
Published: September 26, 2013
Last Updated: 09/26/2026