Rosa Lopez-Guerrero
Madrid, MD 28029, Spain
Last Updated: 09/26/2026
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Found 19 publications
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
Journal: Human molecular genetics
Published: July 13, 2020
De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+).
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: June 17, 2020
α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease.
Journal: Alzheimer's research & therapy
Published: May 13, 2020
Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation.
Journal: Neurobiology of aging
Published: May 30, 2018
SORL1 Variants in Familial Alzheimer's Disease.
Journal: Journal of Alzheimer's disease : JAD
Published: January 30, 2018
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
Journal: The Lancet. Neurology
Published: August 02, 2017
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: November 09, 2016
Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.
Journal: Journal of Alzheimer's disease : JAD
Published: March 12, 2016
Behavioral Evolution of Progressive Semantic Aphasia in Comparison with Nonfluent Aphasia.
Journal: Dementia and geriatric cognitive disorders
Published: August 17, 2015
Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
Journal: Neurologia (Barcelona, Spain)
Published: October 17, 2014
Last Updated: 09/26/2026