Sökning: "motor phenotype"
Visar resultat 1 - 5 av 67 avhandlingar innehållade orden motor phenotype.
1. Prognostic subtypes in Parkinson’s disease and related disorders. Clinical, genetical, and biochemical markers for long-term social, motor, and cognitive development
Sammanfattning : .... LÄS MER
2. The 22q11 deletion syndrome.A clinical and epidemiological study
Sammanfattning : Aims: The aims of this study were to 1) assess the incidence and prevalence of the 22q11 deletion syndrome(22q11DS) in a defined population of western Sweden, 2) to evaluate the presenting phenotype and 3)to investigate the profile of cognitive and nervous system-related disabilities and the resulting handicap,taking into account physical, neurological and psychological aspects.Material and Methods: The incidence was studied in children born in the Western Götaland Region,where Göteborg is the main city, during the years 1991-2000. LÄS MER
3. Congenital and Childhood Myotonic Dystrophy type 1 - the impact on central nervous system, visual and motor function
Sammanfattning : Background and aims: Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder, caused by an expanded CTG repeat on chromosome 19. The disorder can present both in children and adults. LÄS MER
4. Using patient-derived cell models to investigate the role of misfolded SOD1 in ALS
Sammanfattning : Protein misfolding and aggregation underlie several neurodegenerative proteinopathies including amyotrophic lateral sclerosis (ALS). Superoxide dismutase 1 (SOD1) was the first gene found to be associated with familial ALS. LÄS MER
5. Molecular coding and physiological roles of excitatory neurons in motor control
Sammanfattning : Locomotion is a complex motor action that provides humans and other animals with the ability to move through the environment. In vertebrate locomotion, supraspinal centers convey the initiating or terminating command signals to the spinal cord which in turn generates the rhythm and pattern of muscle activities underlying locomotor activity. LÄS MER