RESEARCH

GENETICS OF RARE DISEASES OF DEVELOPMENT

Associated Rare Diseases Reference Center: SOOR

• Rubinstein-Taybi – [D. Lacombe]
• Goldenhar – [C. Rooryck-Thambo]
• Albinism –  [B. Arveiler & S. Javerzat]
• Rasopathies – [R. Rossignol]

                                                   Associated Rare Diseases Reference Center: NEUROGENE

                                                                     Neurodegeneration with Brain Iron Accumulation – []

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MITOCHONDRIAL DISEASES AND METABOLISM

Associated Rare Diseases Reference Center: CARAMMEL

• Stimulation of Oxidative Phosphorylation – [R. Rossignol]
• Regulation of Mitochondrial Turnover – [G. Bénard]
• Contract Research Organization: CELLOMET – [N. Dias Amoedo]
• Physiopathology Analalysis of Hereditary Spastic Paraplegia Type15 – [N. Bellance]
• Lipid Metabolism – Neurotoxic Molecules – [P. Babin]

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