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Spastic paraplegia 17
Known as:
SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT
, SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET
, Spg17
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National Institutes of Health
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Related topics
Related topics
5 relations
Autosomal dominant inheritance
Distal amyotrophy
Lower limb muscle weakness
Talipes cavus
Broader (1)
Spastic Paraplegia, Hereditary
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia
T. Musacchio
,
Ann-Kathrin Zaum
,
+7 authors
S. Klebe
Journal of Neurology
2016
Corpus ID: 29373524
Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of…
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2014
2014
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
D. Orsucci
,
L. Petrucci
,
+12 authors
M. Mancuso
Clinical neurology and neurosurgery (Dutch…
2014
Corpus ID: 10632660
2013
2013
P.6.10 Phenotypic variability in a French family presenting with seipinopathy
A. Magot
,
Y. Ollivier
,
+4 authors
Y. Péréon
Neuromuscular Disorders
2013
Corpus ID: 54241311
2011
2011
[BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration].
D. Ito
,
T. Yagi
,
N. Suzuki
Rinshō shinkeigaku Clinical neurology
2011
Corpus ID: 22273528
The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for congenital generalized lipodystrophy type 2, a…
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Review
2009
Review
2009
Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
D. Ito
,
N. Suzuki
Brain : a journal of neurology
2009
Corpus ID: 14915972
The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for congenital generalized lipodystrophy type 2 (CGL2…
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2003
2003
Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes
C. Windpassinger
,
K. Wagner
,
E. Petek
,
R. Fischer
,
M. Auer-Grumbach
Human Genetics
2003
Corpus ID: 8914304
Silver syndrome is a rare variant of autosomal dominant complicated hereditary spastic paraparesis (HSP), in which spasticity of…
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