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SPG11 gene

Known as: SPATACSIN, FLJ21439, SPG11 
National Institutes of Health

Related topics

Related topics

2 relations
SPG7 geneSpastic paraplegia 11, autosomal recessive

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia
ABSTRACT Aim of the study: To investigate the mutation frequency of SPG11, SPG15, SPG5 and SPG7 in China. Materials and methods… 
2016
2016
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11
Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with… 
2015
2015
Hereditary spastic paraplegia type 11 with a very late onset
2015
2015
Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation
2014
2014
Immunohistochemical localization of spatacsin in α‐synucleinopathies
Spatacsin (SPG11) is a major mutated gene in autosomal recessive spastic paraplegia with thin corpus callosum (ARHSP‐TCC) and is… 
2012
2012
SPG11 Presenting with Tremor
Background Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurological diseases… 
Review
2010
Review
2010
[Japan spastic paraplegia research consortium (JASPAC)].
Japan Spastic Paraplegia Research Consortium (JASPAC), a nationwide clinical and genetic survey of patients with HSP in Japan… 
2008
2008
Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum
Hereditary spastic paraparesis (HSP) with thin corpus callosum (TCC) is a rare autosomal recessive form of complicated HSP (ARHSP… 
2008
2008
Complicated autosomal recessive hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) has emerged as one of the most genetically heterogeneous neurodegenerative disorders. Almost… 
2008
2008
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum
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