Agnese De Giorgi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	HUMAN MUTATION	2025
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report	THE CEREBELLUM	2024
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review	MOLECULAR GENETICS AND METABOLISM	2023
Metabolic control and clinical outcome in adolescents with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2023
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness	ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY	2020
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)	JOURNAL OF PEDIATRIC GENETICS	2020
Carotid plaque detection improves the predictve value of CHA2DS2-VASc score in patients with non-valvular atrial fibrilation. the ARAPACIS study	INTERNATIONAL JOURNAL OF CARDIOLOGY	2017