Roberta Battini Selected Research

creatine transporter

1/2020	Novel translational phenotypes and biomarkers for creatine transporter deficiency.
2/2013	Inborn errors of creatine metabolism and epilepsy.
6/2012	Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.
1/2008	Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.
8/2007	Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

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Roberta Battini Research Topics

Disease

15	Intellectual Disability (Idiocy) 05/2021 - 12/2002
7	Muscular Diseases (Myopathy) 01/2022 - 03/2008
6	Epilepsy (Aura) 01/2021 - 01/2008
5	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2021 - 07/2012
4	Seizures (Absence Seizure) 06/2022 - 02/2013
3	Mitochondrial Diseases (Mitochondrial Disease) 09/2021 - 11/2003
3	Ataxia (Dyssynergia) 09/2021 - 07/2018
3	Movement Disorders (Movement Disorder) 01/2021 - 10/2008
3	Muscular Dystrophies (Muscular Dystrophy) 01/2018 - 03/2014
3	Guanidinoacetate methyltransferase deficiency 02/2013 - 02/2006
2	Stroke (Strokes) 01/2022 - 11/2007
2	Disease Progression 01/2022 - 01/2020
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 10/2021 - 08/2021
2	Muscle Hypotonia (Hypotonia) 05/2021 - 01/2014
2	Cysts 01/2021 - 10/2016
2	Leukoencephalopathies 01/2021 - 10/2016
2	Cerebral Palsy (Spastic Diplegia) 01/2021 - 11/2014
2	Brain Diseases (Brain Disorder) 01/2019 - 02/2013
2	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 10/2016
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 06/2022
1	Lafora Disease 06/2022
1	Paraplegia (Spastic Paraplegia) 04/2022
1	Juvenile Amyotrophic Lateral Sclerosis 2 02/2022
1	Minicore Myopathy with External Ophthalmoplegia 01/2022
1	Autistic Disorder (Autism) 01/2022
1	Central Core Myopathy (Central Core Disease) 01/2022
1	Alexander Disease (Alexander's Disease) 12/2021
1	Gonadal dysgenesis XX type deafness 11/2021
1	Auditory neuropathy 11/2021
1	Neurodevelopmental Disorders 09/2021
1	Cerebellar Diseases (Cerebellar Syndrome) 08/2021
1	Peripheral Nervous System Diseases (PNS Diseases) 08/2021
1	Atrophy 08/2021
1	Hyperkinesis 01/2021
1	Neuromuscular Diseases (Neuromuscular Disease) 06/2020
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 06/2020
1	Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase) 06/2020
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2020
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2020
1	Spastic Ataxia 01/2020
1	recessive Spastic paraplegia type 5A 01/2020
1	Usher Syndromes (Usher Syndrome) 01/2020
1	Cardiac Arrhythmias (Arrythmia) 10/2018
1	Neuropathy ataxia and retinitis pigmentosa 07/2018
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 07/2018
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2018
1	Walker-Warburg Syndrome 01/2018
1	DiGeorge Syndrome (Syndrome, DiGeorge) 01/2017
1	Myotonic Dystrophy (Dystrophia Myotonica) 10/2016
1	Cerebral Small Vessel Diseases 10/2016
1	Hypogonadism (Hypergonadotropic Hypogonadism) 07/2015
1	Group II Malformations of Cortical Development 03/2014

Drug/Important Bio-Agent (IBA)

8	CreatineIBA 01/2021 - 12/2002
6	Arginine-Glycine Amidinotransferase DeficiencyIBA 01/2017 - 02/2006
5	creatine transporterIBA 01/2020 - 08/2007
5	Proteins (Proteins, Gene)FDA Link 01/2018 - 02/2003
4	Pharmaceutical PreparationsIBA 06/2022 - 02/2013
4	Biomarkers (Surrogate Marker)IBA 02/2022 - 01/2020
3	Amino Acids FDA Link 01/2020 - 07/2011
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022 - 05/2015
2	Mitochondrial DNA (mtDNA)IBA 07/2021 - 07/2018
2	Small Nucleolar RNA (snoRNA)IBA 01/2021 - 10/2016
2	X-linked Creatine deficiencyIBA 10/2020 - 01/2020
2	glycine amidinotransferase (arginine-glycine amidinotransferase)IBA 02/2013 - 12/2002
2	glycocyamineIBA 02/2013 - 01/2007
1	TrehaloseIBA 06/2022
1	sperm releasing substanceIBA 04/2022
1	Methotrexate (Mexate)FDA LinkGeneric 01/2022
1	Glial Fibrillary Acidic ProteinIBA 12/2021
1	ManganeseIBA 10/2021
1	coenzyme Q10 (CoQ10)IBA 09/2021
1	Congenital disorder of glycosylation type 1AIBA 08/2021
1	ProteomeIBA 07/2021
1	DNA (Deoxyribonucleic Acid)IBA 05/2021
1	Nonsense Codon (Nonsense Mutation)IBA 01/2021
1	Tetrabenazine (Nitoman)FDA Link 01/2021
1	Biotin (Vitamin H)FDA Link 06/2020
1	Adenosine Triphosphatases (ATPase)IBA 01/2020
1	Histidine-tRNA LigaseIBA 01/2020
1	Histidine (L-Histidine)FDA Link 01/2020
1	EnzymesIBA 01/2020
1	Adaptor Protein Complex 4IBA 01/2020
1	Transfer RNA (tRNA)IBA 01/2020
1	InterferonsIBA 01/2019
1	PotassiumIBA 10/2018
1	Guanosine Diphosphate Mannose (GDP Mannose)IBA 01/2018
1	mannose 1-phosphate guanylyltransferaseIBA 01/2018
1	Dystroglycans (Dystroglycan)IBA 01/2018
1	Biological ProductsIBA 01/2017
1	MicroRNAs (MicroRNA)IBA 01/2017
1	Muscle Proteins (Muscle Protein)IBA 10/2016
1	GlucocorticoidsIBA 10/2015
1	Growth Hormone (Somatotropin)IBA 07/2015
1	Cholinergic Antagonists (Anticholinergics)IBA 11/2014
1	Trihexyphenidyl (Artane)FDA LinkGeneric 11/2014
1	Dyneins (Dynein)IBA 03/2014
1	Cytoplasmic DyneinsIBA 03/2014

Therapy/Procedure

3	Therapeutics 06/2020 - 01/2017
2	Cochlear Implantation 11/2021 - 09/2010
2	Activities of Daily Living (ADL) 08/2021 - 10/2008