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List of works by Rita Barone

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

scientific article

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

scientific article published on 30 October 2014

A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

scientific article published in March 2004

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

scientific article published on 16 September 2019

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

scientific article published on 14 October 2021

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

scientific article published on 14 August 2019

An unknown cause of aortic valve stenosis: polycythemia vera.

scientific article published in February 2013

Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report

scientific article published on 01 December 2000

Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease

scientific article published on 01 January 2002

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

scientific article published on 5 April 2011

Brief report: autistic behaviors among children with fragile X or Rett syndrome: implications for the classification of pervasive developmental disorder

scientific article published in August 1998

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

scientific article published on 22 August 2020

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

Callosal anomalies with interhemispheric cyst: expanding the phenotype

scientific article

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

scientific article

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

scientific article published on 01 June 2000

Chitotriosidase activity in colostrum from African and Caucasian women

scientific article

Chitotriosidase and Alzheimers Disease

scientific article published on 01 July 2007

Chitotriosidase in Patients with Acute Ischemic Stroke

scientific article published on 24 November 2005

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

scientific article published in 2021

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

scientific article published on 11 March 2020

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

scientific article published on 01 August 2008

Congenital disorders of glycosylation with emphasis on cerebellar involvement

scientific article published on July 2014

Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them

scientific article published in August 2005

Correlation between leukocytosis and thrombosis in Philadelphia-negative chronic myeloproliferative neoplasms.

scientific article published on 13 February 2009

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

scientific article published on October 2012

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

scientific article published on June 1999

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation

scientific article published in January 2003

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

Early miglustat therapy in infantile Niemann-Pick disease type C.

scientific article published in July 2012

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

scientific article published on 01 August 1996

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

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

scientific article published on 25 May 2011

Glycomics of pediatric and adulthood diseases of the central nervous system

scientific article published on 16 July 2012

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

scientific article published on 01 June 2000

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function

scientific article

Hyperkinetic movement disorders in congenital disorders of glycosylation

scientific article published on 21 June 2019

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

scientific article published on 21 July 2005

Imaging findings of mucopolysaccharidoses: a pictorial review

scientific article published on 05 May 2013

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

Inter‐ and intrafamilial variability in mucolipidosis II (I‐cell disease) ⬇️

scientific article published on 01 April 1995

Intrathecal chitotriosidase and the outcome of multiple sclerosis

scientific article published on October 2006

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

scientific article

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

scientific article published on 01 April 1998

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

scientific article published on 25 April 2017

Mass spectrometry in the characterization of human genetic N-glycosylation defects

scientific article published on May 2009

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease

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

scientific article published in 2021

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

scientific article published on 01 March 2008

Mucopolysaccharidosis VI: the Italian experience

scientific article published on 07 January 2009

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

scientific article

Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder

scientific article published on 16 April 2019

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

scientific article published in October 1996

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

scientific article published on 11 February 2019

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

scientific article

Outcome of psychiatric symptoms presenting at onset of multiple sclerosis: a retrospective study

scientific article published on 29 March 2010

Pancreatitis and organic acidemias

scientific article published on 01 May 1995

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

scientific article published in September 1999

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

scientific article published on 09 February 2012

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

scientific article published on 01 July 1997

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

scientific article published on 01 January 2001

Plasma Chitotriosidase Activity in Patients with β-Thalassemia

scientific article published on 01 February 1999

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

scientific article

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

scientific article published on 01 February 2003

Plasma chitotriosidase activity in β-thalassemia major: a comparative study between Sicilian and Sardinian patients

scientific article published on 01 April 2001

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

scientific article published in September 1999

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

scientific article published on 27 August 2020

Secondary disorders of glycosylation in inborn errors of fructose metabolism

scientific article

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

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

article published in 2011

Startle epilepsy complicating aspartylglucosaminuria.

scientific article published in March 2004

Substrate reduction therapy in the infantile form of Tay-Sachs disease

scientific article published in January 2006

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

scientific article

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

scientific article published on 01 June 1997

β-Hexosaminidase, α-d-mannosidase, and β-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I

article

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