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SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder)
Known as:
SPG14
, Spastic paraplegia 14, autosomal recessive
National Institutes of Health
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Related topics
Related topics
7 relations
Autosomal recessive inheritance
Lower limb muscle weakness
Mild Mental Retardation
SPG14 gene
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Broader (2)
Intellectual Disability
Spastic Paraplegia, Hereditary
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28–q29
Wenqiang Yu
,
Xiangdong You
,
+10 authors
Wenyuan Duan
Journal of Neurological Sciences
2015
Corpus ID: 564327
2003
2003
Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28.
G. Vazza
,
S. Picelli
,
A. Bozzato
,
M. Mostacciuolo
Gene
2003
Corpus ID: 24375074
Highly Cited
2000
Highly Cited
2000
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.
G. Vazza
,
M. Zortea
,
F. Boaretto
,
G. Micaglio
,
V. Sartori
,
M. Mostacciuolo
American Journal of Human Genetics
2000
Corpus ID: 46517884
Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause progressive spasticity of the lower…
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1997
1997
Expression of recombinant human glutamic acid decarboxylase (GAD) in myeloma cells and enzyme-linked immunosorbent assay (ELISA) for autoantibodies to GAD.
T. Matsuba
,
M. Yano
,
+4 authors
K. Yasukawa
Journal of Biochemistry (Tokyo)
1997
Corpus ID: 45922759
Detection of serum autoantibodies to glutamic acid decarboxylase (GAD) is a new method to differentiate insulin-dependent…
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