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SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE

Known as: SPG49 
National Institutes of Health

Papers overview

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Review
2016
Review
2016
Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children… Expand
2016
2016
BACKGROUND TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish… Expand
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2016
2016
We have performed whole‐exome sequencing in a family trio with a 16‐year‐old girl suffering of progressive motor neuron disease… Expand
Review
2015
Review
2015
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative disorders characterized by progressive… Expand
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2014
2014
Defective autophagy is associated with neurodegenerative disorders including Alzheimer, Parkinson and Huntington diseases… Expand