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SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE

Known as: SPG49 
 
National Institutes of Health

Papers overview

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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
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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
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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
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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
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