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Roberta Biancheri Selected Research

5 Hypomyelinating Leukodystrophy

1/2012Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.
9/2011Hypomyelination and congenital cataract: broadening the clinical phenotype.
8/2007Phenotypic characterization of hypomyelination and congenital cataract.
10/2006Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

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Roberta Biancheri Research Topics

Disease

4Atrophy
04/2015 - 05/2007
45 Hypomyelinating Leukodystrophy
01/2012 - 10/2006
3Seizures (Absence Seizure)
04/2015 - 06/2002
3Pelizaeus-Merzbacher Disease
03/2014 - 05/2005
3Epilepsy (Aura)
08/2012 - 06/2002
2Microcephaly
04/2015 - 04/2010
2Muscle Hypotonia (Hypotonia)
02/2015 - 05/2007
2Metachromatic Leukodystrophy (Sulfatide Lipidosis)
05/2014 - 11/2008
2Hereditary Spastic Paraplegia
03/2014 - 06/2011
2Alexander Disease (Alexander's Disease)
06/2013 - 04/2008
2Leigh Disease (Leigh's Disease)
05/2012 - 06/2003
2Brain Diseases (Brain Disorder)
05/2012 - 05/2012
2Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
03/2008 - 11/2007
2Muscular Dystrophies (Muscular Dystrophy)
11/2007 - 10/2006
1Hyperlipoproteinemia Type I (Lipoprotein Lipase Deficiency, Familial)
02/2015
1Maple Syrup Urine Disease
02/2015
1Liver Diseases (Liver Disease)
02/2015
1Mixed Conductive-Sensorineural Hearing Loss
02/2015
1Dyslipidemias (Dyslipidemia)
02/2015
1Contracture
02/2015
1Infantile Spasms (West Syndrome)
02/2015
1Mitochondrial Diseases (Mitochondrial Disease)
01/2015
1Leukoencephalopathies
01/2015
1Spastic Paraparesis
03/2014
1Alternating hemiplegia of childhood
07/2013
1Cerebellar Ataxia (Dysmetria)
08/2012
1Dementia (Dementias)
08/2012
1Vocal Cord Paralysis
08/2012
1Limbic Encephalitis (Paraneoplastic Limbic Encephalitis)
08/2012
1Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease)
06/2012
1Neurodegenerative Diseases (Neurodegenerative Disease)
06/2012
1Virus Diseases (Viral Diseases)
05/2012
1Pyruvate Dehydrogenase Complex Deficiency Disease
05/2012
1Lactic Acidosis
05/2012
1Dyskinesias (Dyskinesia)
01/2012
1Encephalitis (Encephalitis, Rasmussen)
01/2012
1Cognitive Dysfunction
01/2012
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
12/2011
1Globoid Cell Leukodystrophy (Krabbe Disease)
12/2010
1Gliosis
11/2010
1Deafness (Deaf Mutism)
04/2010
1Insulin-Like Growth Factor I Deficiency
04/2010
1Demyelinating Diseases (Demyelinating Disease)
11/2008
1Inborn Genetic Diseases (Disease, Hereditary)
04/2008
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
03/2008
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
02/2007
1Walker-Warburg Syndrome
10/2006
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
02/2006
1Failure to Thrive
06/2002

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
03/2014 - 05/2005
3Membrane Proteins (Integral Membrane Proteins)IBA
09/2011 - 10/2006
2Transfer RNA (tRNA)IBA
04/2015 - 12/2011
2SaposinsIBA
05/2014 - 11/2008
2Cerebroside-Sulfatase (Arylsulfatase A)IBA
05/2014 - 11/2008
2Glial Fibrillary Acidic ProteinIBA
06/2013 - 04/2008
2AntibodiesIBA
08/2012 - 01/2012
2EnzymesIBA
12/2010 - 03/2002
2Dystroglycans (Dystroglycan)IBA
11/2007 - 02/2006
1Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA
04/2015
1Alkaline PhosphataseIBA
02/2015
1Glutamate-tRNA LigaseIBA
01/2015
1Lactic Acid (Lactate)FDA LinkGeneric
01/2015
13-O-Methylglucose (3 O Methylglucose)IBA
07/2013
1Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
07/2013
1Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA
08/2012
1pantothenate kinaseIBA
06/2012
1ran-binding protein 2IBA
05/2012
1Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
05/2012
1SteroidsIBA
05/2012
1Intravenous Immunoglobulins (IVIG)FDA Link
05/2012
1Immunoglobulins (Immunoglobulin)IBA
05/2012
1N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA
01/2012
1Mitochondrial DNA (mtDNA)IBA
12/2011
1Myelin Proteolipid ProteinIBA
06/2011
1GalactosylceramidaseIBA
12/2010
1Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
11/2010
1Hormones (Hormone)IBA
11/2010
1Transcription Factors (Transcription Factor)IBA
11/2010
1CytokinesIBA
11/2010
1Transcription Factor AP-1 (Transcription Factor AP 1)IBA
11/2010
1Insulin-Like Growth Factor I (IGF-1)IBA
04/2010
1Sulfoglycosphingolipids (Sulfatides)IBA
11/2008
1Methionine (L-Methionine)FDA Link
03/2008
1Threonine (L-Threonine)FDA Link
03/2008
1Creatine Kinase (Creatine Phosphokinase)IBA
11/2007
1RNA Splice SitesIBA
05/2007
1lipopigmentsIBA
02/2007
1protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
10/2006
1DystrophinIBA
02/2006
1Glycoproteins (Glycoprotein)IBA
02/2006
1Proteasome InhibitorsIBA
02/2006
1Sarcoglycans (beta Sarcoglycan)IBA
02/2006
1benzyloxycarbonylleucyl-leucyl-leucine aldehydeIBA
02/2006
1Electron Transport Complex IV (Cytochrome c Oxidase)IBA
06/2003
1HomocystineIBA
06/2002

Therapy/Procedure

1Therapeutics
02/2015
1Wheelchairs (Wheel Chair)
03/2014
1Ketogenic Diet
07/2013
1Immunotherapy
08/2012
1Immunomodulation
05/2012