Alfredo Brusco Selected Research

Lamin Type B (Lamin B)

1/2021	A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy.
1/2019	Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
6/2015	A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
8/2013	Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

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Alfredo Brusco Research Topics

Disease

10	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 07/2002
9	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2022 - 07/2002
7	Ataxia (Dyssynergia) 01/2022 - 07/2008
7	Ataxia Telangiectasia (Louis Bar Syndrome) 11/2020 - 06/2007
7	Cerebellar Ataxia (Dysmetria) 01/2017 - 05/2004
4	Neoplasms (Cancer) 12/2021 - 07/2009
3	Intellectual Disability (Idiocy) 06/2021 - 03/2012
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 07/2013
3	Atrophy 01/2020 - 10/2012
3	Diamond-Blackfan Anemia (Anemia, Diamond Blackfan) 12/2012 - 11/2008
2	Neurodevelopmental Disorders 01/2022 - 12/2019
2	Muscle Hypotonia (Hypotonia) 01/2022 - 09/2020
2	Aneurysm (Aneurysms) 12/2021 - 05/2015
2	Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 01/2019 - 06/2015
2	Nervous System Diseases (Neurological Disorders) 01/2017 - 06/2015
2	Demyelinating Diseases (Demyelinating Disease) 06/2015 - 08/2013
2	Leukoencephalopathies 05/2015 - 04/2005
2	Cognitive Dysfunction 10/2013 - 07/2008
1	Congenital Disorders of Glycosylation 01/2022
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2022
1	Migraine Disorders (Migraine) 01/2022
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 12/2021
1	Vascular Diseases (Vascular Disease) 12/2021
1	Pulmonary Hypertension 12/2021
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 12/2021
1	Hydrocephalus (Hydrocephaly) 12/2021
1	Deafness (Deaf Mutism) 11/2021
1	Cardiomyopathies (Cardiomyopathy) 11/2021
1	Migraine with Aura (Familial Hemiplegic Migraine) 06/2021
1	Neurobehavioral Manifestations 01/2021
1	Osteopathia striata cranial sclerosis 01/2021
1	Neurologic Manifestations (Neurological Manifestations) 12/2020
1	Carcinogenesis 12/2020
1	French Canadian type Leigh syndrome 09/2020
1	X-Linked Bulbo-Spinal Atrophy 01/2020
1	Huntington Disease (Huntington's Disease) 01/2020
1	Uniparental Disomy 01/2019
1	Spinocerebellar ataxia 28 01/2019
1	HEM dysplasia 01/2019
1	Inflammation (Inflammations) 11/2017
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 05/2017
1	Lujan Fryns syndrome 05/2017
1	Keratoconus 04/2017
1	Brain Diseases (Brain Disorder) 01/2017
1	Epilepsy (Aura) 01/2017
1	Schizophrenia (Dementia Praecox) 01/2017
1	Autistic Disorder (Autism) 01/2017
1	Bipolar Disorder (Manic Depressive Psychosis) 01/2017
1	Friedreich Ataxia (Friedreich's Ataxia) 11/2016
1	Obesity 03/2016
1	Overweight 03/2016

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2022 - 05/2015
4	polyglutamineIBA 01/2022 - 07/2002
4	Biological ProductsIBA 01/2022 - 09/2014
4	Lamin Type B (Lamin B)IBA 01/2021 - 08/2013
3	tributyl phosphate (TBP)IBA 01/2022 - 09/2014
3	Histones (Histone)IBA 12/2020 - 06/2008
3	Biomarkers (Surrogate Marker)IBA 05/2018 - 10/2012
2	EnzymesIBA 01/2022 - 09/2015
2	Pharmaceutical PreparationsIBA 01/2021 - 09/2012
2	DiamondIBA 01/2020 - 01/2019
2	Trace Elements (Biometals)IBA 01/2020 - 09/2015
2	MetalsIBA 01/2020 - 09/2015
2	m-AAA proteasesIBA 01/2019 - 10/2010
2	Docosahexaenoic AcidsIBA 01/2019 - 10/2017
2	Collagen Type IV (Type IV Collagen)IBA 05/2015 - 06/2002
2	Ribosomal Proteins (Ribosomal Protein)IBA 12/2012 - 02/2010
1	galantide (M 15)IBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	Calcitonin Gene-Related PeptideIBA 01/2022
1	DolicholsIBA 01/2022
1	Mitochondrial RNAIBA 01/2022
1	RNA Splicing FactorsIBA 01/2022
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 12/2021
1	trametinibIBA 12/2021
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2021
1	UbiquitinIBA 11/2021
1	Potassium Channels (Potassium Channel)IBA 06/2021
1	salicylhydroxamic acid (SHAM)IBA 01/2021
1	GlucocorticoidsIBA 11/2020
1	Dexamethasone (Maxidex)FDA LinkGeneric 11/2020
1	Leucine (L-Leucine)FDA Link 09/2020
1	Glutamine (L-Glutamine)FDA Link 01/2020
1	AMPA Receptors (AMPA Receptor)IBA 12/2019
1	Lamin B ReceptorIBA 01/2019
1	TATA-Box Binding Protein (TATA-Binding Protein)IBA 01/2018
1	IntegrinsIBA 11/2017
1	Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA 10/2017
1	Fibrillin-1IBA 05/2017
1	MicroRNAs (MicroRNA)IBA 04/2017
1	Fatty Acid ElongasesIBA 01/2017
1	Pyruvic Acid (Pyruvate)IBA 11/2016
1	Oxidoreductases (Dehydrogenase)IBA 11/2016
1	Thiamine (Aneurin)FDA Link 11/2016
1	Adenosine Triphosphatases (ATPase)IBA 03/2016

Therapy/Procedure

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