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Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia
Movement DisordersNext‐generation sequencing‐based molecular assessment has benefited the diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and genetic spectrum of HSP due to large fragment deletions/duplications has yet to be fully defined.
Yuwen Cao +5 more
semanticscholar +1 more source
Neurology, 1996
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal dominant, autosomal recessive, and X-linked HSP are genetically heterogeneous: different genes cause ...
J. K. Fink +13 more
openaire +1 more source
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal dominant, autosomal recessive, and X-linked HSP are genetically heterogeneous: different genes cause ...
J. K. Fink +13 more
openaire +1 more source
Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes
Movement Disorders, 2021Spinal cord has been considered the main target of damage in hereditary spastic paraplegias (HSPs), but mounting evidence indicates that the brain is also affected.
K.R. Servelhere +9 more
semanticscholar +1 more source
The hereditary spastic paraplegias
Journal of Neurology, 1999The hereditary spastic paraplegias are a complex group of neurodegenerative conditions which are characterised by slowly progressive lower limb spasticity. This article describes the main clinical features of pure and complicated hereditary spastic paraplegias and summarises recent advances in our understanding of the molecular genetics of these ...
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HEREDITARY (FAMILIAL) SPASTIC PARAPLEGIA
Archives of Neurology And Psychiatry, 1952SINCE 1876, 1 a heredofamilial disease has been known in which the only disturbance, or the most prominent disturbance, has been a slowly progressive weakness and spasticity of the lower extremities. Contributions by Strumpell 2 and Lorrain 3 have led writers to designate this disease by their names.
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2018
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic disorders with the common feature of prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. The HSPs exist not only in "pure" forms but also in "complex" forms that are associated with additional neurologic
openaire +2 more sources
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic disorders with the common feature of prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. The HSPs exist not only in "pure" forms but also in "complex" forms that are associated with additional neurologic
openaire +2 more sources
The hereditary spastic paraplegias
2005The hereditary spastic paraplegias (HSPs) are a group of more than 90 genetic disorders in which lower extremity spasticity and weakness are either the primary neurologic impairments ("uncomplicated HSP") or when accompanied by other neurologic deficits ("complicated HSP"), important features of the clinical syndrome.
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Genetic testing in prostate cancer management: Considerations informing primary care
Ca-A Cancer Journal for Clinicians, 2022Veda N Giri +2 more
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