• Publications
  • Influence
The Spastic Paraplegia Rating Scale (SPRS)
Objective: To develop and evaluate a clinical Spastic Paraplegia Rating Scale (SPRS) to measure disease severity and progression. Methods: A 13-item scale was designed to rate functional impairmentExpand
  • 155
  • 18
Alarm pheromone mediates production of winged dispersal morphs in aphids
The aphid alarm pheromone (E)-β-farnesene (EBF) is the major example of defence communication in the insect world. Released when aphids are attacked by predators such as ladybirds or lacewing larvae,Expand
  • 184
  • 9
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
Background: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), butExpand
  • 130
  • 8
A randomized, double‐blind, placebo‐controlled study of the efficacy and safety of botulinum toxin type A in upper limb spasticity in patients with stroke
Objective. To study the efficacy and safety of botulinum toxin type A (BtxA) in the treatment of upper limb muscle spasticity, caused by stroke.
  • 209
  • 6
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum, prognostic factors, andExpand
  • 93
  • 4
  • PDF
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborativeExpand
  • 156
  • 3
  • PDF
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPASTExpand
  • 16
  • 2
Morphological alterations of the enteric nervous system in young male patients with rectal prolapse
ObjectivesThe pathogenesis of rectal prolapse (RP) defined by a circumferential, full-thickness invagination of the rectal wall into the anal canal is controversial. RP is normally encountered inExpand
  • 9
  • 2
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
BackgroundHereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. We set out for an electrophysiological characterisation ofExpand
  • 24
  • 1