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Duchenne from the third Decade (3D)
Functioning, quality of life and needs of health care in adults with Duchenne Muscular Dystrophy and their informal caregivers.

The main research questions are:1a. What are the functional status on all levels of ICF and quality of life of adults with DMD?1b. What are determinants of functional status and quality of life?2a. What are burden of care and quality of life of…

*Utrecht Spina Bifida And Graded Exercise (USAGE) Study: physical activity, physical fitness and development of an exercise program to improve daily activities and participation in ambulatory children with Spina Bifida*. Part 1: Development of protocols to measure physical fitness in ambulatory children with Spina Bifida

To develop valid and reproducible protocols to measure cardiorespiratory fitness (VO2peak and energy cost of locomotion) in ambulatory children with SB. These protocols will allow further studies regarding physical fitness in these children.

Creatine transporter defect in females.

1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.

A European Study to identify the needs of individuals and families affected by Juvenile Huntington's Disease

identification of the needs of families with juvenile Huntington's disease

Sleep disturbances in chronic progressive external ophthalmoplegia

Using a nighttime sleep recorder, we want to answer the following questions:1. description of sleep quality (duration, efficiency and structure of various stages of sleep)2. quantification of specific sleep disturbances (RLS, OSAS and periodic limb…

Sjogren-Larsson syndrome, clinical aspects

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Dopamine-*-hydroxylase deficiency and cognitive function

The main objective is to understand the role of the noradrenergic system in human cognition by testing specific hypotheses about task performance in D*H patients. A secondary objective is to understand whether and how cognitive function is…