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Chloé Di Meglio Selected Research

Lethal congenital contracture syndrome 1

1/2020Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

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Chloé Di Meglio Research Topics

Disease

1Lethal congenital contracture syndrome 1
01/2020
1Motor Neuron Disease (Primary Lateral Sclerosis)
01/2020
1Arthrogryposis
01/2020
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
05/2016
1Brain Diseases (Brain Disorder)
12/2015
1Infantile Epileptic-Dyskinetic Encephalopathy
12/2015

Drug/Important Bio-Agent (IBA)

1RNA (Ribonucleic Acid)IBA
01/2020
1Proteins (Proteins, Gene)FDA Link
05/2016
1Qa-SNARE Proteins (Syntaxin)IBA
12/2015
1Carrier Proteins (Binding Protein)IBA
12/2015