Giacomo Garone | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review	PARKINSONISM & RELATED DISORDERS	2019
Acute ataxia in paediatric emergency departments: a multicentre Italian study	ARCHIVES OF DISEASE IN CHILDHOOD	2019
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study	FRONTIERS IN GENETICS	2019
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder	PARKINSONISM & RELATED DISORDERS	2019
Vertical Gaze Palsy in Kernicterus	NEUROPEDIATRICS	2019
Acute hyperkinetic movement disorders in Italian paediatric emergency departments	ARCHIVES OF DISEASE IN CHILDHOOD	2018
A cohort study on acute ocular motility disorders in pediatric emergency department	THE ITALIAN JOURNAL OF PEDIATRICS	2018
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2016
The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2016
Severe early onset ethylmalonic encephalopathy with west syndrome	METABOLIC BRAIN DISEASE	2015
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy	JOURNAL OF NEUROGENETICS	2015
Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1	ANNALS OF HUMAN GENETICS	2015