Pediatría
Departamento
Institució Catalana de Recerca i Estudis Avançats
Barcelona, EspañaPublicaciones en colaboración con investigadoras/es de Institució Catalana de Recerca i Estudis Avançats (5)
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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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
2019
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
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