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Hereditary Autosomal Dominant Spastic Paraplegia

Known as: Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant, Autosomal Dominant Hereditary Spastic Paraplegia, CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal Recessive Hereditary Spastic ParaplegiaHereditary X-Linked Recessive Spastic Paraplegia

Broader (1)

Spastic Paraplegia, Hereditary

Papers overview

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2017
2017
Enhancing the Performance of the Microwave Absorbing Materials by Using Dielectric Resonator Arrays
We present a technique for enhancing the performance of microwave absorbing materials in terms of weight, thickness, and… 
2014
2014
A contact area function for Berkovich nanoindentation: Application to hardness determination of a TiHfCN thin film
2012
2012
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
Mutations in the Sonic hedgehog limb enhancer, the zone of polarizing activity regulatory sequence (ZRS, located within the gene… 
2011
2011
Structural design of pyramidal truss core sandwich beams loaded in 3-point bending
Highly Cited
2006
Highly Cited
2006
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
Autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 12q (SPG10) is caused by mutations in the neuronal… 
Highly Cited
2004
Highly Cited
2004
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders… 
Highly Cited
2004
Highly Cited
2004
Hereditary Spastic Paraplegia Clinical Genetic Study of 15 Families
Results: Nine families with ADHSP were linked to the SPG4 locus at 2p21-p24. Sequence analysis of SPG4 showed a novel N386S… 
Review
2003
Review
2003
Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.
Hereditary sensory neuropathies (HSNs) are rare disorders characterized by progressive distal sensory loss, predominantly… 
2001
2001
A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study
1987
1987
Zircon in charnockitic rocks from rogaland (southwest Norway): Petrogenetic implications
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