Amelie Pandraud Selected Research

Brown-Vialetto-Van Laere syndrome

11/2017	Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
1/2014	Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
11/2013	Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
9/2012	Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

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Amelie Pandraud Research Topics

Disease

4	Brown-Vialetto-Van Laere syndrome 11/2017 - 09/2012
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2017 - 08/2012
2	Motor Neuron Disease (Primary Lateral Sclerosis) 11/2013 - 09/2012
1	Mitochondrial Diseases (Mitochondrial Disease) 11/2017
1	Optic Atrophy 11/2017
1	Ataxia (Dyssynergia) 11/2017
1	Frontotemporal Dementia (Semantic Dementia) 09/2014
1	Parkinson Disease (Parkinson's Disease) 09/2014
1	Parkinsonian Disorders (Parkinsonism) 09/2014
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 09/2012
1	Paralysis (Palsy) 09/2012

Drug/Important Bio-Agent (IBA)

4	Riboflavin (Vitamin B2)FDA LinkGeneric 11/2017 - 09/2012
1	EstersIBA 11/2017
1	Small Heat-Shock ProteinsIBA 01/2017
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 09/2014
1	SynucleinsIBA 09/2014
1	Biological ProductsIBA 11/2013
1	Amyloid (Amyloid Fibrils)IBA 09/2012
1	Proteins (Proteins, Gene)FDA Link 09/2012
1	Myelin ProteinsIBA 08/2012

Therapy/Procedure

1	Mechanical Ventilators (Ventilator) 11/2017
1	Muscle Denervation 09/2012