MRGM RESEARCH Branch 1

GENETICS OF RARE DISEASES OF DEVELOPMENT

Associated Rare Diseases Reference Center: SOOR

Rubinstein-Taybi – [D. Lacombe]

Goldenhar – [C. Rooryck-Thambo]

Albinism – [B. Arveiler]

Rasopathies – [R. Rossignol]


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GENETICS OF RARE DISEASES OF MOTONEURONS

Associated Rare Diseases Reference Center: NEUROGENE

Neurodegenerations – [C. Goizet/I. Coupry]

Physiopathology Analysis of Hereditary Spastic Paraplegia Type 15 – [N. Bellance]

Hereditary Spastic Paraplegia Type 7 – [J.P. Laserre]

Neurodegeneration with Brain Iron Accumulation – [P. Fergelot]

Lipid Metabolism – Neurotoxic Molecules – [P. Babin]


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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]

Immune Functions of Mitochondrial Metabolism – [J. Garaude]

Contract Research Organization: CELLOMET – [N. Dias Amoedo]