Natural History of Movement Abnormalities on Hereditary Spastic Paraplegia: validation of timed functional instruments
Objective: To evaluate the natural history of Hereditary Spastic Paraplegia (HSPs) and to define sensitivity to change, minimal clinically important difference (MCID) and validity of…The Clinical, Molecular and Radiographic Spectrum of Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): Results from the AP-4-HSP International Registry
Objective: 1) To develop a registry and natural history study for AP-4-HSP; 2) to define core clinical and radiographic features; 3) to explore genotype-phenotype correlations.…Whole-Body Neuromuscular Ultrasound for Evaluating Posture and Targeted Management of Muscle Spasticity and Pain
Objective: The aim was to assess efficacy of whole body neuromuscular ultrasound to evaluate posture and targeted management of muscle spasticity and pain. Background: Muscle…Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia
Objective: To characterize the demographic, clinical and genetic features of HSP and to define the phenotypic spectrum and genotype-specific differences. Background: Hereditary spastic paraplegia (HSP)…Biological course and natural history of hereditary spastic paraplegia type 11 (SPG11)
Objective: We aim to establish biological markers for the natural history and course of hereditary spastic paraplegia (HSP) type 11 (SPG11) using multiple readout parameters…Genotype-Phenotype correlations and expansion of the molecular spectrum of AP4M1-related Hereditary Spastic Paraplegia
Objective: To identify possible novel variants in a HSP family from Greece. Background: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a…Effect of Valproic Acid on Dystonia in a patient with Traumatic Brain Injury: a case report.
Objective: Valproic Acid, a branched short chain fatty acid, is widely used as an epileptic drug and mood stabilizer [1]. Its mechanism of action is…Hereditary spastic paraplegia type 31: a novel splice site donor mutation and intra-familial phenotypic variability
Objective: The aim of this study is to reveal molecular pathogenicity and genotype-phenotype correlations in Spastic Paraplegia type 31 (SPG31). Background: Mutations in REEP1 have…Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability
Objective: The aim of this study is to reveal molecular pathogenicity and genotype-phenotype correlations in spastic paraplegia type 4 (SPG4). Background: Mutations in SPG4/SPAST represent…Glut-1 deficiency: a case report
Objective: To report the case of a patient with refractory seizures who was diagnosed with Glut-1 deficiency. Background: Although Epilepsy is commonly diagnosed by child…
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