Results 261 to 270 of about 113,489 (310)

Association between Hereditary Spastic Paraplegia and a Novel SPAST Exon 11 Mutation

open access: hybrid
Wensha Nie   +9 more
openalex   +1 more source

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

open access: yesHuman Molecular Genetics, 2015
K. Hardies   +11 more
semanticscholar   +1 more source

Association of spinal cord structure with cognition in hereditary spastic paraplegia type 5. [PDF]

open access: yesFront Neurol
Chen X   +9 more
europepmc   +1 more source

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

open access: yesEuropean Journal of Human Genetics, 2015
E. Ylikallio   +6 more
semanticscholar   +1 more source

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience. [PDF]

open access: yesChildren (Basel)
Besen S   +6 more
europepmc   +1 more source

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