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Vincenzo Nigro Selected Research

Type 1F Limb-Girdle Muscular Dystrophy

8/2014A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
5/2014Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
1/2013Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

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Vincenzo Nigro Research Topics

Disease

16Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2019 - 11/2003
15Muscular Dystrophies (Muscular Dystrophy)
01/2018 - 05/2002
14Muscular Diseases (Myopathy)
06/2022 - 07/2008
5Disease Progression
01/2022 - 12/2002
4Type 1C Limb-Girdle Muscular Dystrophy
08/2014 - 12/2003
4Cardiomyopathies (Cardiomyopathy)
04/2013 - 01/2009
3Distal Myopathies (Distal Muscular Dystrophy)
01/2021 - 02/2011
3Sarcoglycanopathies
01/2020 - 05/2014
3Inborn Genetic Diseases (Disease, Hereditary)
01/2020 - 10/2011
3Type 1F Limb-Girdle Muscular Dystrophy
08/2014 - 01/2013
3Type 2I Limb-Girdle Muscular Dystrophy
05/2014 - 12/2003
3type 2B Limb-girdle muscular dystrophy
05/2014 - 02/2011
2Central Core Myopathy (Central Core Disease)
01/2022 - 05/2003
2Neurodevelopmental Disorders
01/2022 - 01/2019
2Neoplasms (Cancer)
01/2020 - 04/2019
2Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/2020 - 12/2018
2Neurofibromatosis 1 (Neurofibromatosis Type I)
01/2018 - 11/2015
2Walker-Warburg Syndrome
01/2018 - 05/2014
2Fibrosis (Cirrhosis)
04/2015 - 01/2009
2Type 1G Limb-Girdle Muscular Dystrophy
08/2014 - 05/2014
2Type 1D Limb-Girdle Muscular Dystrophy
08/2014 - 05/2014
2Type 1E Limb-Girdle Muscular Dystrophy
08/2014 - 05/2014
2type 1B Limb-girdle muscular dystrophy
08/2014 - 05/2014
2Limb-girdle muscular dystrophy type 2A
05/2014 - 02/2005
2Miyoshi myopathy
09/2011 - 02/2011
1Retinitis Pigmentosa (Pigmentary Retinopathy)
12/2022
1Scleroatonic muscular dystrophy
06/2022
1Bethlem myopathy
06/2022
1Microcephaly
01/2022
1Language Development Disorders (Semantic-Pragmatic Disorder)
01/2022
1Genomic Instability
01/2022
1Minicore Myopathy with External Ophthalmoplegia
01/2022
1Intellectual Disability (Idiocy)
01/2022
1Kidney Diseases (Kidney Disease)
12/2021
1Thrombocytopenia (Thrombopenia)
12/2021
1Myofibrillar Myopathy
12/2021
1Infantile Epileptic-Dyskinetic Encephalopathy
11/2021
1Brain Diseases (Brain Disorder)
11/2021
1Nervous System Diseases (Neurological Disorders)
10/2020
1Neuromuscular Diseases (Neuromuscular Disease)
06/2020
1Epilepsy (Aura)
01/2020
1Drug Resistant Epilepsy
01/2020
1Schizophrenia (Dementia Praecox)
01/2019
1Muscle Hypotonia (Hypotonia)
01/2018
1Clubfoot (Talipes Equinovarus)
01/2018
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
01/2018
1Genetic Predisposition to Disease (Genetic Predisposition)
01/2018
1Respiratory Distress Syndrome (Acute Respiratory Distress Syndrome)
01/2018
1Hearing Loss (Hearing Impairment)
10/2017
1Syringomyelia (Morvan's Disease)
10/2017
1Cataract (Cataracts)
10/2017
1Osteoporosis
10/2017
1Lipodystrophy
01/2017
1Strudwick syndrome
01/2017
1Cone-Rod Dystrophies
01/2017
1Fatty Liver
01/2017
1Hypoparathyroidism
10/2016
1Neurodegenerative Diseases (Neurodegenerative Disease)
10/2016
1Type 1 Kenny-Caffey syndrome
10/2016

Drug/Important Bio-Agent (IBA)

17Proteins (Proteins, Gene)FDA Link
01/2022 - 12/2003
9DystrophinIBA
01/2020 - 05/2002
9Sarcoglycans (beta Sarcoglycan)IBA
01/2016 - 11/2003
6DNA (Deoxyribonucleic Acid)IBA
01/2022 - 10/2011
5DysferlinIBA
05/2014 - 02/2011
4Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
01/2022 - 05/2003
4Lamin Type A (Lamin A)IBA
12/2015 - 01/2014
3Retinaldehyde (Retinal)IBA
12/2022 - 02/2008
3SteroidsIBA
01/2020 - 01/2011
3ConnectinIBA
01/2020 - 05/2014
3Caveolin 3IBA
05/2014 - 12/2003
3CalpainIBA
05/2014 - 12/2002
2Muscle Proteins (Muscle Protein)IBA
01/2021 - 03/2010
2Dystroglycans (Dystroglycan)IBA
01/2018 - 05/2014
2polyglucosanIBA
10/2015 - 04/2015
2DesminIBA
08/2014 - 05/2014
2Karyopherins (Importin)IBA
05/2014 - 01/2013
2Glycoproteins (Glycoprotein)IBA
11/2011 - 07/2008
1CollagenIBA
06/2022
1Histone Acetyltransferases (Histone Acetyltransferase)IBA
01/2022
1GPI-Linked ProteinsIBA
11/2021
1Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
11/2021
1Adenosine Triphosphate (ATP)IBA
10/2020
1KinesinsIBA
10/2020
1Membrane Proteins (Integral Membrane Proteins)IBA
01/2020
1WW Domain-Containing OxidoreductaseIBA
01/2020
1Nonsense Codon (Nonsense Mutation)IBA
01/2020
1Complementary RNA (cRNA)IBA
01/2020
1Phosphotransferases (Kinase)IBA
04/2019
1Folic Acid (Vitamin M)FDA LinkGeneric
01/2019
1Nitric Oxide (Nitrogen Monoxide)FDA Link
01/2018
1Guanosine Diphosphate Mannose (GDP Mannose)IBA
01/2018
12,2,2',4'-tetrachloroacetophenoneIBA
01/2018
1mannose 1-phosphate guanylyltransferaseIBA
01/2018
1Growth Hormone (Somatotropin)IBA
10/2017
1HDL CholesterolIBA
01/2017
1Biomarkers (Surrogate Marker)IBA
01/2017
1TubulinIBA
10/2016
1Protein Isoforms (Isoforms)IBA
10/2016

Therapy/Procedure

4Therapeutics
12/2021 - 03/2010
1Artificial Respiration (Mechanical Ventilation)
01/2018