Spectrum of Hereditary Spastic Paraparesis (HSP): A study from India
Objective: To explore the genetic spectrum of hereditary spastic paraparesis in Indian patients. Background: HSP belongs to a heterogenous group of monogenic neurological disorders with…Neuroimaging and correlation with functional status in children with cerebral palsy
Objective: To analyse the neuroimaging findings and to establish a correlation between clinical features and magnetic resonance imaging (MRI) patterns in children with cerebral palsy…Using wearable wireless technology to understand the natural history of adrenomyeloneuropathy in both clinic and home settings: 1-year follow-up in the CYGNET study
Objective: To assess the feasibility of using wearable wireless motion sensors to quantify disease progression in men with adrenomyeloneuropathy (AMN) enrolled in the CYGNET natural…Quantitative analysis of speech diadochokinetic rate in hereditary spastic paraplegia SPG3A
Objective: To analyze the dysarthria and speech diadochokinetic rate in a patient with hereditary spastic paraplegia (SPG3A). Background: Hereditary spastic paraplegias (HSP) are about 80…Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches
Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…Early-onset spastic ataxia in a patient with prion (PRNP) p.Val180Ile mutation
Objective: To broaden the clinical manifestation of PRNP gene mutation-related ataxia. Background: Genetic forms of prion diseases caused by PRNP mutation account for about 10-15%,…Hereditary spastic paraplegia caused by mutations in SPAST, REEP1, or ATL1: A systematic review
Objective: The objective of our systematic review was to provide a review of hereditary spastic paraplegias (HSPs) regarding their genotype and clinical presentations. Background: Hereditary…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Choice of shoulder muscles for the multi-pattern treatment of upper limb spasticity with botulinum neurotoxin injections
Objective: To present an experts’ consensus on the use of botulinum neurotoxin (BoNT) injections in the multi-pattern treatment of shoulder spasticity to increase awareness of…Phenotype-genotype correlation in a case series from South Spain of Hereditary Spastic Paraplegia 7 (SPG7)
Objective: To describe the phenotype and genotype of patients with confirmed diagnosis of SPG7 Background: Coarelli et al described the possible correlation between genotype and…
- « Previous Page
- 1
- 2
- 3
- 4
- 5
- …
- 7
- Next Page »