Rita Barone Selected Research

Ataxia (Dyssynergia)

8/2021

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

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Rita Barone Research Topics

Disease

15	Congenital Disorders of Glycosylation 02/2024 - 12/2005
10	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 03/2024 - 08/2008
10	Inborn Genetic Diseases (Disease, Hereditary) 02/2024 - 08/2008
8	Mucopolysaccharidoses 01/2022 - 03/2002
6	Autism Spectrum Disorder 02/2023 - 04/2016
3	Tics (Tic) 02/2022 - 01/2022
3	Thalassemia 01/2022 - 01/2007
3	Alzheimer Disease (Alzheimer's Disease) 01/2019 - 01/2007
3	Congenital disorder of glycosylation type II 08/2011 - 12/2005
2	Muscle Hypotonia (Hypotonia) 03/2024 - 10/2012
2	Seizures (Absence Seizure) 03/2024 - 01/2021
2	Tourette Syndrome (Tourette's Syndrome) 02/2022 - 01/2022
2	Anemia 01/2022 - 12/2014
2	Atrophy 08/2021 - 01/2015
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	Stroke (Strokes) 01/2007 - 01/2005
2	Communicable Diseases (Infectious Diseases) 01/2007 - 01/2005
2	Falciparum Malaria (Plasmodium falciparum Malaria) 05/2003 - 01/2003
1	Movement Disorders (Movement Disorder) 03/2024
1	Colorectal Neoplasms (Colorectal Cancer) 02/2024
1	Phenylketonurias (Phenylketonuria) 11/2023
1	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2023
1	Glycogen Storage Disease Type II (Pompe's Disease) 04/2023
1	Intellectual Disability (Idiocy) 02/2023
1	Inflammation (Inflammations) 01/2023
1	Tic Disorders (Tic Disorder) 02/2022
1	Anxiety Disorders (Anxiety Disorder) 02/2022
1	Neoplasms (Cancer) 01/2022
1	Ataxia (Dyssynergia) 08/2021
1	Peripheral Nervous System Diseases (PNS Diseases) 08/2021
1	Cerebellar Diseases (Cerebellar Syndrome) 08/2021
1	Congenital Abnormalities (Deformity) 06/2021
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2021
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2021
1	Glycogen Storage Disease XIV 01/2021
1	Cognitive Dysfunction 08/2020
1	Chronic Disease (Chronic Diseases) 08/2020
1	COVID-19 08/2020

Drug/Important Bio-Agent (IBA)

14	Polysaccharides (Glycans)IBA 03/2024 - 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	GlycoconjugatesIBA 02/2024 - 08/2021
3	IronIBA 01/2023 - 08/2013
3	RNA (Ribonucleic Acid)IBA 06/2017 - 03/2008
2	Ferritins (Ferritin)IBA 01/2023 - 05/2003
2	HydrolasesIBA 01/2022 - 05/2019
2	ResveratrolIBA 06/2021 - 04/2019
2	Anticonvulsants (Antiepileptic Drugs)IBA 01/2021 - 01/2016
2	Heparitin Sulfate (Heparan Sulfate)IBA 01/2021 - 03/2002
2	phosphomannomutaseIBA 01/2021 - 01/2019
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	DeferiproneIBA 12/2014 - 08/2013
2	OligosaccharidesIBA 08/2011 - 05/2009
2	Rituximab (Mabthera)FDA Link 12/2010 - 07/2010
2	Dermatan SulfateIBA 03/2008 - 03/2002
2	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 03/2008 - 01/2005
1	glucosidase IIBA 03/2024
1	Netrin-1IBA 02/2024
1	Tryptophan (L-Tryptophan)FDA Link 11/2023
1	KynurenineIBA 11/2023
1	Amino Acids FDA Link 02/2023
1	C-Reactive ProteinIBA 01/2023
1	ElectrolytesIBA 01/2023
1	Insulin-Like Growth Factor I (IGF-1)IBA 02/2022
1	IGF Type 1 Receptor (IGF 1 Receptor)IBA 02/2022
1	Vitamin B 6IBA 02/2022
1	theanineIBA 02/2022
1	Hemoglobins (Hemoglobin)IBA 01/2022
1	GlobinsIBA 01/2022
1	Explosive Agents (Explosives)IBA 01/2022
1	ManganeseIBA 10/2021
1	PalmitatesIBA 06/2021
1	Fatty Acids (Saturated Fatty Acids)IBA 06/2021
1	Carnitine (L-Carnitine)FDA LinkGeneric 06/2021
1	GlycogenIBA 01/2021
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2021
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2021
1	PhosphoglucomutaseIBA 01/2021
1	MicroRNAs (MicroRNA)IBA 08/2020

Therapy/Procedure

12	Therapeutics 04/2023 - 03/2008
2	Drug Therapy (Chemotherapy) 01/2022 - 02/2013
2	Enzyme Replacement Therapy 08/2020 - 03/2008
1	Activities of Daily Living (ADL) 08/2021