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Alfredo Brusco Selected Research

Glutamine (L-Glutamine)

3/2024Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.
1/2020Trace elements profile in the blood of Huntington' disease patients.

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Alfredo Brusco Research Topics

Disease

10Neurodegenerative Diseases (Neurodegenerative Disease)
01/2021 - 07/2002
9Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2022 - 07/2002
8Ataxia (Dyssynergia)
03/2024 - 07/2008
7Ataxia Telangiectasia (Louis Bar Syndrome)
11/2020 - 06/2007
7Cerebellar Ataxia (Dysmetria)
01/2017 - 05/2004
4Neurodevelopmental Disorders
02/2024 - 12/2019
4Atrophy
01/2023 - 10/2012
4Neoplasms (Cancer)
12/2021 - 07/2009
3Inborn Genetic Diseases (Disease, Hereditary)
01/2021 - 07/2013
3Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)
12/2012 - 11/2008
2Autism Spectrum Disorder
11/2023 - 03/2012
2Cardiomyopathies (Cardiomyopathy)
01/2023 - 11/2021
2Choristoma (Ectopic Tissue)
12/2022 - 02/2011
2Muscle Hypotonia (Hypotonia)
01/2022 - 09/2020
2Aneurysm (Aneurysms)
12/2021 - 05/2015
2Intellectual Disability (Idiocy)
06/2021 - 03/2012
2Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
01/2019 - 06/2015
2Nervous System Diseases (Neurological Disorders)
01/2017 - 06/2015
2Demyelinating Diseases (Demyelinating Disease)
06/2015 - 08/2013
2Leukoencephalopathies
05/2015 - 04/2005
2Cognitive Dysfunction
10/2013 - 07/2008
1Spinocerebellar Ataxia 17
03/2024
1Mowat-Wilson syndrome
02/2024
1Chromosome Deletion (Deletion, Chromosome)
11/2023
1Epilepsy (Aura)
11/2023
1Habitual Abortion (Recurrent Miscarriage)
01/2023
1Alzheimer Disease (Alzheimer's Disease)
01/2023
1Muscular Diseases (Myopathy)
01/2023
1Hypophosphatemia
12/2022
1Lymphangioma (Cavernous Lymphangioma)
12/2022
1Chylothorax
12/2022
1Rickets (Rachitis)
12/2022
1Hamartoma
12/2022
1Nevus (Nevi)
12/2022
1Hypophosphatemic Rickets
12/2022
1Bladder Exstrophy (Exstrophy, Bladder)
11/2022
1Migraine Disorders (Migraine)
01/2022
1Congenital Disorders of Glycosylation
01/2022
1Retinitis Pigmentosa (Pigmentary Retinopathy)
01/2022
1Hydrocephalus (Hydrocephaly)
12/2021
1Pulmonary Hypertension
12/2021
1Vascular Diseases (Vascular Disease)
12/2021
1Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
12/2021
1Noonan Syndrome (Female Pseudo-Turner Syndrome)
12/2021
1Deafness (Deaf Mutism)
11/2021
1Migraine with Aura (Familial Hemiplegic Migraine)
06/2021
1Neurobehavioral Manifestations
01/2021
1Carcinogenesis
12/2020
1Neurologic Manifestations (Neurological Manifestations)
12/2020
1French Canadian type Leigh syndrome
09/2020
1X-Linked Bulbo-Spinal Atrophy
01/2020
1Huntington Disease (Huntington's Disease)
01/2020
1Spinocerebellar ataxia 28
01/2019
1Uniparental Disomy
01/2019

Drug/Important Bio-Agent (IBA)

8Proteins (Proteins, Gene)FDA Link
09/2023 - 05/2015
5Biomarkers (Surrogate Marker)IBA
02/2024 - 10/2012
4tributyl phosphate (TBP)IBA
03/2024 - 09/2014
4polyglutamineIBA
01/2022 - 07/2002
4Lamin Type B (Lamin B)IBA
01/2021 - 08/2013
3DNA (Deoxyribonucleic Acid)IBA
11/2023 - 07/2013
3Histones (Histone)IBA
12/2020 - 06/2008
2TATA-Box Binding Protein (TATA-Binding Protein)IBA
03/2024 - 01/2018
2Glutamine (L-Glutamine)FDA Link
03/2024 - 01/2020
2Mitogen-Activated Protein Kinase Kinases (MEKs)IBA
12/2022 - 12/2021
2EnzymesIBA
01/2022 - 09/2015
2DiamondIBA
01/2020 - 01/2019
2Trace Elements (Biometals)IBA
01/2020 - 09/2015
2MetalsIBA
01/2020 - 09/2015
2Docosahexaenoic AcidsIBA
01/2019 - 10/2017
2m-AAA proteasesIBA
01/2019 - 10/2010
2Collagen Type IV (Type IV Collagen)IBA
05/2015 - 06/2002
2Ribosomal Proteins (Ribosomal Protein)IBA
12/2012 - 02/2010
1Transcription Factors (Transcription Factor)IBA
02/2024
1N-Methylaspartate (NMDA)IBA
11/2023
1Ionotropic Glutamate ReceptorsIBA
11/2023
1Adenosine Triphosphate (ATP)IBA
09/2023
1ConnectinIBA
01/2023
1Phosphates (Orthophosphate)IBA
12/2022
1Ephrin-A1 (Ephrin A1)IBA
11/2022
1galantide (M 15)IBA
01/2022
1RNA Splicing FactorsIBA
01/2022
1Mitochondrial RNAIBA
01/2022
1Calcitonin Gene-Related PeptideIBA
01/2022
1DolicholsIBA
01/2022
1Glycoproteins (Glycoprotein)IBA
01/2022
1trametinibIBA
12/2021
1Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
11/2021
1UbiquitinIBA
11/2021
1Potassium Channels (Potassium Channel)IBA
06/2021
1salicylhydroxamic acid (SHAM)IBA
01/2021
1Dexamethasone (Maxidex)FDA LinkGeneric
11/2020
1GlucocorticoidsIBA
11/2020
1Leucine (L-Leucine)FDA Link
09/2020
1AMPA Receptors (AMPA Receptor)IBA
12/2019
1Lamin B ReceptorIBA
01/2019

Therapy/Procedure

4Therapeutics
01/2020 - 01/2012
3Ligation
12/2012 - 11/2008
1Ventriculoperitoneal Shunt
12/2021
1Transcranial Direct Current Stimulation
01/2021
1Gastrostomy
09/2020