Itziar Colmenero-Alonso
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 10 publications
Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Journal: Frontiers in cell and developmental biology
Published: March 06, 2026
The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: October 20, 2025
AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.
Journal: Orphanet journal of rare diseases
Published: September 19, 2025
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.
Journal: Neurobiology of disease
Published: September 15, 2025
New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutation.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: July 24, 2025
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 18, 2025
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Journal: Frontiers in cell and developmental biology
Published: October 13, 2023
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Journal: Brain : a journal of neurology
Published: August 03, 2023
Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria.
Journal: Journal of clinical and experimental neuropsychology
Published: February 07, 2017
Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients
Journal: Revista de neurologia
Published: July 26, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026