Barbara Garavaglia
Fondazione IRCCS Istituto Neurologico Carlo Besta
237 papers found
Refreshing results…
Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study
Download from doi.orgClinical, molecular and glycophenotype insights in SLC39A8-CDG
Download from link.springer.comMyopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3
Download from academic.oup.comTHAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases
Download from onlinelibrary.wiley.comYY1 ‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation
Download from onlinelibrary.wiley.comImpulse control behavior in GBA-mutated parkinsonian patients
UploadEIF2AK2 missense variants associated with early‐onset generalized dystonia
Download from onlinelibrary.wiley.comEarly-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
Download from academic.oup.comMissing publications? Search for publications with a matching author name.