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Spastic paraplegia 15, autosomal recessive

Known as: KJELLIN SYNDROME, SPG15, SPASTIC PARAPLEGIA AND RETINAL DEGENERATION 
 
National Institutes of Health

Related topics

Related topics

20 relations
AtaxiaAutosomal recessive inheritanceAxonal neuropathyClonus
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Broader (2)

Spastic Paraplegia, HereditaryZFYVE26 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Cortical thickness, volume and surface area in patients with bipolar disorder types I and II.
BACKGROUND Bipolar disorder (BD) is a common chronic psychiatric disorder mainly characterized by episodes of mania, hypomania… Expand
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Highly Cited
2015
Highly Cited
2015
Monocyte and microglial activation in patients with mood-stabilized bipolar disorder.
BACKGROUND Bipolar disorder is associated with medical comorbidities that have been linked to systemic inflammatory mechanisms… Expand
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Highly Cited
2014
Highly Cited
2014
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders, clinically classified in pure and… Expand
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Highly Cited
2014
Highly Cited
2014
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70… Expand
Highly Cited
2013
Highly Cited
2013
A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System
Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because of the… Expand
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Highly Cited
2013
Highly Cited
2013
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15
The adaptor protein complex AP-5 is stably associated with the hereditary spastic paraplegia proteins SPG11 and SPG15 in an… Expand
Review
2012
Review
2012
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are… Expand
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2012
2012
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish
Hereditary spastic paraplegias (HSPs) are rare neurological conditions caused by degeneration of the long axons of the… Expand
Highly Cited
2009
Highly Cited
2009
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
Objective: Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently… Expand
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Highly Cited
2008
Highly Cited
2008
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both "uncomplicated" and… Expand
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