Itxaso
Marti Carrera
Hospital Universitario de Donostia
San Sebastián, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario de Donostia (20)
2024
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CT angiography reconstruction of a rotational vertebral artery syndrome
Archives of Disease in Childhood
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
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Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort
Neurologia, Vol. 38, Núm. 2, pp. 93-105
2022
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
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Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study
Journal of Medical Genetics, Vol. 59, Núm. 4, pp. 399-409
2021
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A Validated WISC-V Short-Form to Estimate Intellectual Functioning in Very Preterm Children at Early School Age
Frontiers in Psychology, Vol. 12
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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
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The use of lower or higher than recommended doses of folic acid supplements during pregnancy is associated with child attentional dysfunction at 4–5 years of age in the inma project
Nutrients, Vol. 13, Núm. 2, pp. 1-16
2020
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Canavan gaixotasuna (aspartoazilasaren gabezia): Euskal Herriko lehen kasuaren eta Europako mutazio berri baten aurkezpena
Osagaiz: osasun-zientzien aldizkaria, Vol. 4, Núm. 2, pp. 71-78
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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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Amioplasia congénita
Anales de Pediatria
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Herpes simplex virus encephalitis is a trigger of brain autoimmunity
Annals of Neurology, Vol. 75, Núm. 2, pp. 317-323
2005
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Familial Parkinson's disease: Clinical and genetic analysis of four Basque families
Annals of Neurology, Vol. 57, Núm. 3, pp. 365-372
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Trimetazidine induces parkinsonism, gait disorders and tremor
Therapie
2004
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Mitochondrial polymporphisms in Parkinson's Disease
Neuroscience Letters, Vol. 370, Núm. 2-3, pp. 171-174