CLAUDIO
CATALLI
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Hospital Virgen de la Arrixaca
Murcia, EspañaPublicaciones en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (8)
2021
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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
2019
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Clinical and genetic characteristics of late-onset Huntington's disease
Parkinsonism and Related Disorders, Vol. 61, pp. 101-105
2018
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Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study
Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222
2017
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Cognitive decline in Huntington's disease expansion gene carriers
Cortex, Vol. 95, pp. 51-62
2013
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The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients
PLoS ONE, Vol. 8, Núm. 7
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β-defensin genomic copy number does not influence the age of onset in huntington’s disease
Journal of Huntington's Disease, Vol. 2, Núm. 1, pp. 107-124
2012
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Discrepancies in reporting the CAG repeat lengths for Huntington’s disease
European Journal of Human Genetics, Vol. 20, Núm. 1, pp. 20-26