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…Complex Pediatric Tone and Movement Disorder Clinic: A Model for Multi-disciplinary Care in Qatar.
Objective: To describe a multidisciplinary service model designed for children with complex tone and movement disorders Background: Pediatric tone and movement disorders are diverse and…A young man with rapidly progressive spastic hemiplegia.
Objective: A 17 years-old male develops rapidly progressive impairment of balance and gait, left sided weakness, falls, headache, vomiting, photophobia and phonophobia. No history of…SPG21 in Europe: Mutations outside the Amish community
Objective: We herein report two Austrian families harbouring mutations in the SPG21-gene. Background: SPG21 is a complicated, autosomal recessive hereditary spastic paraplegia. It presents with…Elucidating Factors Influencing Machine Learning Algorithm Prediction in Spasticity Assessment: A Prospective Cross Sectional Observational Study
Objective: To train and validate a machine learning model (MLM) algorithm utilizing the inertial and sEMG datasets for spasticity assessment according to MAS classification and…
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