Scientific Publications
Curious About the Latest Scientific Discoveries?
Discover our Publications
Hereditary Spastic Paraplegia Type 5: Natural History, Biomarkers and a Randomized Controlled Trial
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the […]
In Vitro Enzyme Measurement
The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. […]
Assessment of Olfactory Function
Olfactory dysfunction is associated with normal aging, multiple neurodegenerative disorders, including Parkinson’s disease, Lewy body disease and Alzheimer’s disease, and other diseases such as […]
Unmet Needs in Human Genomic Variant Interpretation
The quality and the precision of a final diagnosis do not consist solely of correct variant classification and clinical interpretation. Diagnosis begins at the preanalytical level, and all subsequent […]
Glucosylsphingosine Causes Hematological and Visceral Changes in Mice
Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. […]
17q23.2q23.3 de Novo Duplication
Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas […]
Functional Characterization of Rare RAB12 Variants
Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician's dystonia (MD) and writer's […]
VEGF-A Gene Polymorphisms and Responses to Intravitreal Ranibizumab Treatment in Patients with Diabetic Macular Edema
The purpose of this study was to investigate the association between VEGF gene polymorphisms and the responses to treatment with intravitreal ranibizumab (IVR) in patients with diabetic macular edema […]
Clinical and Genetic Characteristics of Sporadic Adult-Onset Degenerative Ataxia
The objective of this study is to define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure […]