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Mélanie Fradin Selected Research

Carbohydrates

8/2012Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

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Mélanie Fradin Research Topics

Disease

1Neurodevelopmental Disorders
10/2023
1Congenital Hypothyroidism (Cretinism)
01/2023
1Muscular Diseases (Myopathy)
01/2021
1Malignant Hyperthermia
01/2021
1Muscle Hypotonia (Hypotonia)
01/2021
1Central Core Myopathy (Central Core Disease)
01/2021
1Congenital Structural Myopathies (Centronuclear Myopathy)
01/2021
1Laminopathies
01/2019
1Cardiac Sudden Death (Sudden Cardiac Arrest)
01/2019
1Ventricular Tachycardia
01/2019
1Polydactyly (Polydactylism)
01/2018
1Ciliopathies
01/2018
1Hereditary renal agenesis
01/2018
1Imperforate Anus
01/2018
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
06/2017
1Channelopathies
06/2017
1Cerebellar Ataxia (Dysmetria)
06/2017
1Ataxia (Dyssynergia)
06/2017
1Achondroplasia
05/2016
1Weaver syndrome
03/2016
1Neoplasms (Cancer)
03/2016
1Synostosis
01/2015
1Syndactyly (Polysyndactyly)
01/2015
1Coloboma (Colobomas)
01/2015
1Omani type Spondyloepiphyseal dysplasia
08/2012

Drug/Important Bio-Agent (IBA)

1Biomarkers (Surrogate Marker)IBA
10/2023
1Thyroid HormonesIBA
01/2023
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
01/2021
1Monomeric GTP-Binding ProteinsIBA
01/2018
1tributyl phosphate (TBP)IBA
06/2017
1polyglutamineIBA
06/2017
1DNA (Deoxyribonucleic Acid)IBA
05/2016
1NucleotidesIBA
05/2016
1Proteins (Proteins, Gene)FDA Link
03/2016
1Histone MethyltransferasesIBA
03/2016
1iridalIBA
01/2015
1CarbohydratesIBA
08/2012
1SulfotransferasesIBA
08/2012
1ChondroitinIBA
08/2012

Therapy/Procedure

1Implantable Defibrillators (Implantable Cardioverter-Defibrillator)
01/2019