Add to ORKGcharacterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG
Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been descri...
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clin...
Hereditary spastic paraplegias (HSPs) are a diverse group of genetic conditions with variable severi...
International audienceBackground : The hereditary spastic paraplegias (HSPs) are rare neurodegenerat...
Item does not contain fulltextSPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HS...
SPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HSP), with only six SPG8 familie...
Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eigh...
Background and purpose: Hereditary spastic paraplegia is a clinically and genetically heterogeneous ...
spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG1
KIAA0196-specific MLPA probes. Shown are exons against which probes were designed, plus neighbouring...
International audienceThe hereditary spastic paraplegias (HSPs) are a clinically and genetically het...
To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with her...
Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized ...
Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 S...
We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in a...
Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been descri...
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clin...
Hereditary spastic paraplegias (HSPs) are a diverse group of genetic conditions with variable severi...
International audienceBackground : The hereditary spastic paraplegias (HSPs) are rare neurodegenerat...
Item does not contain fulltextSPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HS...
SPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HSP), with only six SPG8 familie...
Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eigh...
Background and purpose: Hereditary spastic paraplegia is a clinically and genetically heterogeneous ...
spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG1
KIAA0196-specific MLPA probes. Shown are exons against which probes were designed, plus neighbouring...
International audienceThe hereditary spastic paraplegias (HSPs) are a clinically and genetically het...
To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with her...
Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized ...
Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 S...
We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in a...
Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been descri...
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clin...
Hereditary spastic paraplegias (HSPs) are a diverse group of genetic conditions with variable severi...