The hereditary spastic paraplegias (HSPs) are a clinically and genetically diverse group of inherited neurological disorders that primarily cause progressive spasticity and weakness in the lower limbs due to a length-dependent, retrograde degradation of the corticospinal motor neurons. Purely spastic paraplegia is also known as uncomplicated HSP, but complicated forms of HSP exist as well, with symptoms such as mental retardation, dementia, seizures, and optic, cortical, and cerebellar atrophy. Twenty gene products have been identified from over 40 different known SPG spastic gait loci (SPG1-46), which may be inherited in autosomal dominant, autosomal recessive, or X-linked manners. The work presented in this thesis focuses on two differen...
Mutation of the atlastin gene (SPG3A) is responsible for approximately 10% of autosomal dominant her...
International audienceHereditary spastic paraplegias (HSP) are rare neurodegenerative diseases shari...
The term “hereditary spastic paraplegia” (HSP) refers to a genetically and clinically diverse group ...
The Hereditary Spastic Paraplegias (HSP) comprise a group of neurodegenerative diseases characterize...
Hereditary spastic paraparesis (HSP) is a group of monogenic neurodegenerative disorders, causing pr...
International audienceHereditary spastic paraplegias (HSPs) are a group of rare, inherited, neurolog...
International audienceHereditary spastic paraplegias (HSP) are a heterogeneous group of motor neurod...
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurologi...
Hereditary spastic paraplegia (HSP) was first described in the late 1800s and has since become a ter...
Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degenera...
AbstractStudies with animal models are providing new insights into the pathology of hereditary spast...
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by p...
Hereditary spastic paraplegia (HSP) is an extremely heterogeneous disease caused by mutations of num...
Background: Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations i...
AbstractHereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous n...
Mutation of the atlastin gene (SPG3A) is responsible for approximately 10% of autosomal dominant her...
International audienceHereditary spastic paraplegias (HSP) are rare neurodegenerative diseases shari...
The term “hereditary spastic paraplegia” (HSP) refers to a genetically and clinically diverse group ...
The Hereditary Spastic Paraplegias (HSP) comprise a group of neurodegenerative diseases characterize...
Hereditary spastic paraparesis (HSP) is a group of monogenic neurodegenerative disorders, causing pr...
International audienceHereditary spastic paraplegias (HSPs) are a group of rare, inherited, neurolog...
International audienceHereditary spastic paraplegias (HSP) are a heterogeneous group of motor neurod...
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurologi...
Hereditary spastic paraplegia (HSP) was first described in the late 1800s and has since become a ter...
Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degenera...
AbstractStudies with animal models are providing new insights into the pathology of hereditary spast...
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by p...
Hereditary spastic paraplegia (HSP) is an extremely heterogeneous disease caused by mutations of num...
Background: Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations i...
AbstractHereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous n...
Mutation of the atlastin gene (SPG3A) is responsible for approximately 10% of autosomal dominant her...
International audienceHereditary spastic paraplegias (HSP) are rare neurodegenerative diseases shari...
The term “hereditary spastic paraplegia” (HSP) refers to a genetically and clinically diverse group ...