Itxaso
Marti Carrera
Universitat Autònoma de Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (10)
2023
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
2022
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Genetic diagnosis of basal ganglia disease in childhood
Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752
2021
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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Small for Gestational Age Moderate to Late Preterm Children: A Neuropsychological Follow-up
Developmental Neuropsychology, Vol. 46, Núm. 4, pp. 277-287
2020
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Scientific Reports, Vol. 10, Núm. 1
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Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability
Genes, Vol. 11, Núm. 1
2019
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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303
2016
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Targeted next generation sequencing in patients with inborn errors of metabolism
PLoS ONE, Vol. 11, Núm. 5
2014
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Herpes simplex virus encephalitis is a trigger of brain autoimmunity
Annals of Neurology, Vol. 75, Núm. 2, pp. 317-323