Lucia Ulgheri
Sassari, Italy
Last Updated: 09/26/2026
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Found 8 publications
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Journal: Neurology. Genetics
Published: October 13, 2021
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Journal: American journal of medical genetics. Part A
Published: September 17, 2021
Geographic differences in the incidence of Huntington's disease in Sardinia, Italy.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 26, 2020
Prevalence of Huntington's disease in Southern Sardinia, Italy.
Journal: Parkinsonism & related disorders
Published: April 21, 2020
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Journal: American journal of medical genetics. Part A
Published: December 12, 2018
Reassessment of the 12q15 deletion syndrome critical region.
Journal: European journal of medical genetics
Published: October 27, 2016
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 20, 2014
LDL-apheresis in patients with familial autosomal recessive hypercholesterolemia
Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
Published: March 06, 2012
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Last Updated: 09/26/2026