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You searched for: Author/Creator Travaglini, Lorena

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1. A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder. (April 2019)

2. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Issue 6 (1st May 2015)

3. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022)

4. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Issue 3 (4th January 2021)

5. Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum. (September 2016)

6. Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance. Issue 1 (15th November 2021)

7. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network. (30th April 2022)

8. Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym. Issue 10 (23rd July 2022)

9. Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Issue 3 (5th December 2019)

10. Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders. Issue 7 (31st July 2020)