Luisa Arrabal

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

T. Huisman, A. Poretti, C. Ortez, 2019, Parkinsonism & related disorders.

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2011, neurogenetics.

Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

M. Juan, P. Soler-Palacín, A. Zabalza, 2018, The Lancet Neurology.

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia

C. Barbas, J. Lorente, María-José Sánchez, 2021, International journal of molecular sciences.

Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

A. Vanderver, X. Montalban, M. Tintoré, 2020, The Lancet Neurology.

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

F. Sedel, A. Ormazabal, R. Artuch, 2017, Scientific Reports.

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

C. Amiñoso, E. Vallespín, L. Fernández, 2013, Gene.

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

F. Tort, A. Ribes, L. Gort, 2023, International Journal of Molecular Sciences.

Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach

L. J. Martínez-González, Jorge Sáiz, S. Roldán, 2024, International Journal of Molecular Sciences.