Neurogenetics Department

Research Areas

Gene mapping, gene identification and mutation detection studies in neurological conditions that include:

• Distal spinal muscular atrophy type V
• Congenital myasthenic syndromes
• Charcot-Marie-Tooth polyneuropathies
• Hereditary motor neuronopathy type Jerash
• Autosomal recessive inclusion body myopathy
• Autosomal recessive limb-girdle muscular dystrophy
• Spinocerebellar ataxias
• Friedreich’s ataxia