Rita Barone Selected Research

Congenital disorder of glycosylation type 1A

8/2021	Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
1/2021	Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
1/2016	Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
1/2015	A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
7/2014	Congenital disorders of glycosylation with emphasis on cerebellar involvement.
8/2011	The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.

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Rita Barone Research Topics

Disease

13	Congenital Disorders of Glycosylation 02/2022 - 12/2005
9	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 10/2021 - 08/2008
9	Inborn Genetic Diseases (Disease, Hereditary) 08/2021 - 08/2008
8	Mucopolysaccharidoses 01/2022 - 03/2002
6	Autism Spectrum Disorder 06/2021 - 04/2016
3	Thalassemia 01/2022 - 01/2007
3	Seizures (Absence Seizure) 01/2021 - 08/2005
3	Alzheimer Disease (Alzheimer's Disease) 01/2019 - 01/2007
3	Congenital disorder of glycosylation type II 08/2011 - 12/2005
2	Tics (Tic) 02/2022 - 01/2022
2	Tourette Syndrome (Tourette's Syndrome) 02/2022 - 01/2022
2	Anemia 01/2022 - 12/2014
2	Atrophy 08/2021 - 01/2015
2	Muscle Hypotonia (Hypotonia) 01/2021 - 10/2012
2	Metabolic Diseases (Metabolic Disease) 01/2021 - 10/2012
2	Autistic Disorder (Autism) 01/2020 - 06/2017
2	Sickle Cell Anemia (Hemoglobin S Disease) 03/2018 - 12/2014
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 08/2013 - 03/2008
2	beta-Thalassemia (Cooley's Anemia) 08/2013 - 04/2003
2	Disease Progression 07/2012 - 10/2009
2	Polycythemia Vera 01/2012 - 10/2009
2	acquired Thrombotic thrombocytopenic purpura 12/2010 - 07/2010
2	Galactosemias (Galactosemia) 09/2008 - 12/2005
2	Communicable Diseases (Infectious Diseases) 01/2007 - 01/2005
2	Stroke (Strokes) 01/2007 - 01/2005
2	Falciparum Malaria (Plasmodium falciparum Malaria) 05/2003 - 01/2003
1	Tic Disorders (Tic Disorder) 02/2022
1	Anxiety Disorders (Anxiety Disorder) 02/2022
1	Neoplasms (Cancer) 01/2022
1	Cerebellar Diseases (Cerebellar Syndrome) 08/2021
1	Ataxia (Dyssynergia) 08/2021
1	Peripheral Nervous System Diseases (PNS Diseases) 08/2021
1	Congenital Abnormalities (Deformity) 06/2021
1	Glycogen Storage Disease XIV 01/2021
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2021
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2021
1	Cognitive Dysfunction 08/2020
1	Virus Diseases (Viral Diseases) 08/2020
1	Chronic Disease (Chronic Diseases) 08/2020
1	COVID-19 08/2020
1	Reinfection 12/2019
1	Spinal Cord Diseases 08/2019
1	Tay-Sachs Disease 01/2019
1	Hemoglobinopathies 03/2018
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 04/2016
1	Brain Diseases (Brain Disorder) 01/2016
1	Epilepsy (Aura) 01/2016

Drug/Important Bio-Agent (IBA)

12	Polysaccharides (Glycans)IBA 01/2022 - 12/2005
9	Proteins (Proteins, Gene)FDA Link 10/2020 - 08/2008
8	Glycoproteins (Glycoprotein)IBA 01/2022 - 12/2005
7	LipidsIBA 12/2019 - 01/2007
6	Congenital disorder of glycosylation type 1AIBA 08/2021 - 08/2011
5	GlycosaminoglycansIBA 01/2022 - 03/2008
5	chitotriosidaseIBA 07/2007 - 01/2003
4	GlycolipidsIBA 01/2022 - 12/2005
4	EnzymesIBA 08/2021 - 03/2008
4	Biomarkers (Surrogate Marker)IBA 01/2021 - 03/2008
3	RNA (Ribonucleic Acid)IBA 06/2017 - 03/2008
2	HydrolasesIBA 01/2022 - 05/2019
2	ResveratrolIBA 06/2021 - 04/2019
2	Heparitin Sulfate (Heparan Sulfate)IBA 01/2021 - 03/2002
2	Pharmaceutical PreparationsIBA 01/2021 - 08/2005
2	phosphomannomutaseIBA 01/2021 - 01/2019
2	Anticonvulsants (Antiepileptic Drugs)IBA 01/2021 - 01/2016
2	Biological ProductsIBA 01/2020 - 05/2009
2	Immunoglobulins (Immunoglobulin)IBA 12/2019 - 09/2008
2	Transferrin (beta 2 Transferrin)IBA 01/2016 - 12/2005
2	Deferoxamine (Desferal)FDA LinkGeneric 12/2014 - 08/2013
2	IronIBA 12/2014 - 08/2013
2	DeferiproneIBA 12/2014 - 08/2013
2	OligosaccharidesIBA 08/2011 - 05/2009
2	Rituximab (Mabthera)FDA Link 12/2010 - 07/2010
2	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 03/2008 - 01/2005
2	Dermatan SulfateIBA 03/2008 - 03/2002
1	Insulin-Like Growth Factor I (IGF-1)IBA 02/2022
1	IGF Type 1 Receptor (IGF 1 Receptor)IBA 02/2022
1	theanineIBA 02/2022
1	Vitamin B 6IBA 02/2022
1	Hemoglobins (Hemoglobin)IBA 01/2022
1	GlobinsIBA 01/2022
1	ManganeseIBA 10/2021
1	GlycoconjugatesIBA 08/2021
1	Fatty Acids (Saturated Fatty Acids)IBA 06/2021
1	Carnitine (L-Carnitine)FDA LinkGeneric 06/2021
1	PalmitatesIBA 06/2021
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2021
1	GlycogenIBA 01/2021
1	PhosphoglucomutaseIBA 01/2021
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2021
1	MicroRNAs (MicroRNA)IBA 08/2020
1	MetalsIBA 01/2020
1	ElementsIBA 01/2020
1	Peroxisome Proliferator-Activated Receptors (PPAR)IBA 04/2019
1	UDP-galactose translocatorIBA 01/2019
1	Fetal Hemoglobin (Hemoglobin F)IBA 03/2018
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 06/2017

Therapy/Procedure

11	Therapeutics 01/2022 - 03/2008
2	Enzyme Replacement Therapy 08/2020 - 03/2008
1	Activities of Daily Living (ADL) 08/2021
1	Transcranial Magnetic Stimulation 08/2019