SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
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We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease… (More)
- Brain : a journal of neurology
Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children… (More)
TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish… (More)
Defective autophagy is associated with neurodegenerative disorders including Alzheimer, Parkinson and Huntington diseases… (More)