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biostudies-arrayexpress
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2007
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2019
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Comparative genomic hybridization by array
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2007
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Center for Molecular Medicine and Excellence Cluster "Cellular Stress Responses in Aging-Associated Diseases" (CECAD), University of Cologne, 50931 Cologne, Germany
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Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion.
Not available
S-EPMC7231525
|
biostudies-literature
Cite
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Not available
S-EPMC1785307
|
biostudies-literature
Cite
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
Not available
S-EPMC4647479
|
biostudies-literature
Cite
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
Not available
S-EPMC3764324
|
biostudies-literature
Cite
Characterization of the first tetrameric transcription factor of the GntR superfamily with allosteric regulation from the bacterial pathogen Agrobacterium fabrum.
Not available
S-EPMC7797058
|
biostudies-literature
Cite
Expression of N471D strumpellin leads to defects in the endolysosomal system.
Not available
S-EPMC6177004
|
biostudies-literature
Cite
Case report: A novel
WASHC5
variant altering mRNA splicing causes spastic paraplegia in a patient.
Not available
S-EPMC10644772
|
biostudies-literature
Cite
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Not available
S-EPMC6411833
|
biostudies-literature
Cite
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Not available
S-EPMC5141523
|
biostudies-literature
Cite
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
Not available
S-EPMC4137231
|
biostudies-literature
Cite
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