Lista de obras - Giacomo Garone - Dominio Público Uruguay

A cohort study on acute ocular motility disorders in pediatric emergency department.

artículo científico publicado en 2018

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

scientific article published on 07 December 2018

Acute ataxia in paediatric emergency departments: a multicentre Italian study

artículo científico publicado en 2019

Acute hyperkinetic movement disorders in Italian paediatric emergency departments.

artículo científico publicado en 2018

Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations

artículo científico publicado en 2020

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias ⬇️

scientific article published on 20 May 2020

Could Rolandic spikes be a prognostic factor of the neurocognitive outcome of children with BECTS?

scientific article published on 19 July 2018

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

artículo científico publicado en 2019

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

artículo científico publicado en 2015

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

artículo científico publicado en 2015

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

artículo científico publicado en 2015

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

scientific article published on 16 November 2018

Prestatus and status dystonicus in children and adolescents

scientific article published on 13 December 2019

Severe early onset ethylmalonic encephalopathy with West syndrome

artículo científico publicado en 2015

The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome.

artículo científico publicado en 2016

Vertical Gaze Palsy in Kernicterus

scientific article published on 07 May 2019

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

artículo científico publicado en 2022

Lista de obras de Giacomo Garone

A cohort study on acute ocular motility disorders in pediatric emergency department.

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

Acute ataxia in paediatric emergency departments: a multicentre Italian study

Acute hyperkinetic movement disorders in Italian paediatric emergency departments.

Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias ⬇️

Could Rolandic spikes be a prognostic factor of the neurocognitive outcome of children with BECTS?

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

Prestatus and status dystonicus in children and adolescents

Severe early onset ethylmalonic encephalopathy with West syndrome

The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome.

Vertical Gaze Palsy in Kernicterus

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats