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Andrea Mignarri Selected Research

Oculopharyngeal Muscular Dystrophy

8/2012The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.

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Andrea Mignarri Research Topics

Disease

8Cerebrotendinous Xanthomatosis
04/2020 - 03/2013
2Myotonic Dystrophy (Dystrophia Myotonica)
12/2021 - 08/2012
2Myotonia Congenita (Thomsen Disease)
12/2021 - 06/2017
2Disease Progression
05/2017 - 01/2016
2Multiple Sclerosis
07/2016 - 08/2009
2Hereditary Spastic Paraplegia
08/2014 - 03/2014
1Hyperparathyroidism
10/2022
1Paraplegia (Spastic Paraplegia)
04/2022
1Myotonia
12/2021
1Cholestasis
01/2020
1Jaundice (Icterus)
01/2020
1Paresis (Hemiparesis)
06/2017
1Metabolic Diseases (Metabolic Disease)
05/2017
1Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
07/2016
1Wernicke Aphasia (Receptive Aphasia)
06/2014
1Narcolepsy
06/2014
1Cataplexy
06/2014
1Clinical Deterioration
05/2014
1Parkinsonian Disorders (Parkinsonism)
04/2014
1Fibrosis (Cirrhosis)
04/2014
1Dementia (Dementias)
04/2013
1Bone Fractures (Bone Fracture)
03/2013
1Minicore Myopathy with External Ophthalmoplegia
08/2012
1Oculopharyngeal Muscular Dystrophy
08/2012
1Ankylosing Spondylitis
08/2009

Drug/Important Bio-Agent (IBA)

6Chenodeoxycholic Acid (Chenix)FDA Link
04/2020 - 03/2013
2Mexiletine (Mexitil)FDA LinkGeneric
12/2021 - 06/2017
2Bile Acids and Salts (Bile Acids)IBA
01/2020 - 01/2016
2LipidsIBA
01/2017 - 05/2014
2CholesterolIBA
01/2016 - 03/2014
1Proto-Oncogene Proteins c-sis (Platelet Derived Growth Factor B)IBA
10/2022
1sperm releasing substanceIBA
04/2022
1Protein Kinases (Protein Kinase)IBA
12/2021
1Chloride Channels (Chloride Channel)IBA
12/2021
1N-desmethylstobadineIBA
12/2021
1Transaminases (Aminotransferases)IBA
01/2020
1BilirubinIBA
01/2020
1GlucuronidesIBA
01/2020
1ChloridesIBA
06/2017
1Biomarkers (Surrogate Marker)IBA
05/2017
1Mitochondrial DNA (mtDNA)IBA
07/2016
1ProgranulinsIBA
06/2014
1OrexinsIBA
06/2014
1ManganeseIBA
04/2014
1LithiumIBA
04/2013
1Cholestanol (Coprostanol)IBA
03/2013
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
08/2012
1HLA-B27 Antigen (HLA B27 Antigen)IBA
08/2009

Therapy/Procedure

3Therapeutics
05/2017 - 09/2013
1Transcranial Magnetic Stimulation
08/2014