Neurociencias - GIC 21/019
University of Pavia
Pavía, ItaliaPublicaciones en colaboración con investigadoras/es de University of Pavia (7)
2024
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898
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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Movement Disorders, Vol. 39, Núm. 1, pp. 209-214
2022
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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
2020
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Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
2009
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MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement
Human Mutation, Vol. 30, Núm. 2, pp. E432-E442
2007
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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113