List of works - Rita Barone

Sporadic motor neuron disease in a familial novel SOD1 mutation: Incomplete penetrance or chance association?

article published in 2011

Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report

scientific article published on 01 December 2000

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

scientific article published on 01 February 2003

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

scientific article published on October 10, 2015

Plasma Chitotriosidase Activity Is a Marker of Recovery in Transplanted Patients Affected by β-Thalassemia major

scientific article published on 01 January 2001

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease

CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder

scientific article published on 19 August 2015

Chitotriosidase activity in colostrum from African and Caucasian women

scientific article

Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I

scientific article published on 01 June 2000

An unknown cause of aortic valve stenosis: polycythemia vera

scientific article published in February 2013

Extraneurologic symptoms as presenting signs of Sanfilippo disease

scientific article published in September 2001

Extraordinary bone involvement in a Gaucher disease type I patient

scientific article published on 01 March 2000

Startle epilepsy complicating aspartylglucosaminuria.

scientific article published in March 2004

Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study

scientific article published on 14 August 2019

Pancreatitis and organic acidemias

scientific article published on 01 May 1995

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases

scientific article published on 22 August 2020

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

scientific article published on 16 September 2019

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

scientific article published on 09 February 2012

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting

scientific article published on 11 March 2020

Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum Disorder

scientific article published on 18 May 2020

Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers

scientific article published on December 18, 2016

Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children

scientific article published on 27 August 2020

Incidence of Autism Spectrum Disorder in Youths Affected by Gilles de la Tourette Syndrome Based on Data from a Large Single Italian Clinical Cohort

scientific article published on 02 November 2020

Hyperkinetic movement disorders in congenital disorders of glycosylation

scientific article published on 21 June 2019

Online comprehension across different semantic categories in preschool children with autism spectrum disorder

scientific article published on 11 February 2019

Mitochondrial Fatty Acid β-Oxidation and Resveratrol Effect in Fibroblasts from Patients with Autism Spectrum Disorder

scientific article published in 2021

Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center

scientific article published on 27 October 2020

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)