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Spastic paraplegia 10, autosomal dominant
Known as:
Autosomal dominant spastic paraplegia
, SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
, SPG10
National Institutes of Health
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Related topics
Related topics
8 relations
Autosomal dominant inheritance
KIF5A, ARG280HIS
Lower limb muscle weakness
Scoliosis, unspecified
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Broader (1)
Spastic Paraplegia, Hereditary
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
GP47 A novel mutation in autosomal dominant spastic paraplegia type 4
J. Kutty
Abstracts
2019
Corpus ID: 208445010
Background Hereditary Spastic Paraplegia (HSP) is a rare group of diseases characterized by slowly progressive degeneration of…
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2016
2016
Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia
A. Akhmetgaleyeva
,
I. Khidiyatova
,
E. Saifullina
,
R. Idrisova
,
R. Magzhanov
,
E. Khusnutdinova
Russian Journal of Genetics
2016
Corpus ID: 254978002
Hereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary lesion of the pyramidal tract. The…
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2014
2014
The spectrum of axonopathies
V. Fridman
,
S. Murphy
Neurology
2014
Corpus ID: 27009802
Hereditary spastic paraplegias (HSP) are characterized by the presence of lower extremity spasticity and weakness. They are…
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Review
2014
Review
2014
[Japan Spastic Paraplegia Research Consortium (JASPAC)].
Y. Takiyama
Brain and nerve = Shinkei kenkyu no shinpo
2014
Corpus ID: 41182023
Japan Spastic Paraplegia Research Consortium (JASPAC), a nationwide clinical and genetic survey of patients with hereditary…
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2012
2012
Novel SPG10 Mutation Associated with Hereditary Spastic Paraplegia and Dysautonomia (P05.194)
N. Collongues
,
C. Depienne
,
+8 authors
J. Seze
2012
Corpus ID: 76577507
Objective: We report the characteristics of a French family with a novel missense mutation c.580 G>C in exon 7 of the KIF5A/SPG10…
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2006
2006
SPG10 in German families with hereditary spastic paraplegia
R. Schüle
,
M. Auer-Grumbach
,
+6 authors
L. Schöls
2006
Corpus ID: 72114265
2001
2001
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia
A. Ashley-Koch
,
Erin R. Bonner
,
+12 authors
M. Pericak-Vance
Neurogenetics
2001
Corpus ID: 7962925
Abstract We evaluated seven families segregating pure, autosomal dominant familial spastic paraplegia (SPG) for linkage to four…
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1981
1981
Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling
A. Burdick
,
L. Owens
,
C. R. Peterson
Clinical Genetics
1981
Corpus ID: 20512054
We have examined a pedigree in which familial spastic paraplegia (FSP) is segregating in four generations. The data show a high…
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1971
1971
Two distinct types of autosomal dominant spastic paraplegia.
T. Thurmon
,
B. A. Walker
Birth defects original article series
1971
Corpus ID: 22286040
1971
1971
Two distinct types of autosomal dominant spastic paraplegia.
Thurmon Tf
,
Walker Ba
1971
Corpus ID: 89016325
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