Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Arianna Tucci

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

scientific article

Genetic variability at the PARK16 locus

scientific article

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

scientific article published on 15 September 2020

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

scientific article

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

scientific article

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 26 November 2020

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

scientific article published on 01 March 2022

Paulina is supported by:

About Paulina

Help