Ilaria Taglia
Siena, 53100, Italy
Last Updated: 09/26/2026
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Found 16 publications
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 02, 2019
HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers.
Journal: Journal of cellular physiology
Published: June 04, 2019
Primary familial brain calcification caused by MYORG mutations in an Italian family.
Journal: Parkinsonism & related disorders
Published: May 30, 2019
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
Journal: Acta neurologica Scandinavica
Published: April 18, 2018
Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations.
Journal: European journal of neurology
Published: December 11, 2017
A new case of autosomal dominant small vessel disease carrying a novel heterozygous mutation in HTRA1 gene: 2-year follow-up.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 11, 2017
Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.
Journal: Journal of cellular physiology
Published: June 29, 2017
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.
Journal: CNS neuroscience & therapeutics
Published: June 08, 2017
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: May 11, 2016
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.
Journal: Journal of Alzheimer's disease : JAD
Published: September 25, 2015
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: April 09, 2015
Primary familial brain calcification: update on molecular genetics.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 01, 2014
Last Updated: 09/26/2026