A5030184399- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Nuclear Structure and Function
- Cell Adhesion Molecules Research
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Glycogen Storage Diseases and Myoclonus
- Children's Physical and Motor Development
- Caveolin-1 and cellular processes
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- Adipose Tissue and Metabolism
- Prosthetics and Rehabilitation Robotics
Pontificia Universidad Católica de Chile
2013-2018
University Medical Center Freiburg
2012-2017
University of Freiburg
2016-2017
University of Würzburg
2016-2017
University Medical Center
2017
University Hospital and Clinics
2017
National Institute of Neurological Disorders and Stroke
2017
Amsterdam Neuroscience
2017
McMaster Children's Hospital
2017
Klinik für Neuropädiatrie und Muskelerkrankungen
2012
Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial patients Europe, compares it to guidelines.A cross-sectional 1677 contacted via TREAT-NMD registries conducted using self-report questionnaires seven European countries.Survey respondents were 861 children 201 adults. Data describe population with mean age 13.0 years (range...
To describe the presentation and identify cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic myasthenic features.This case study 5 patients from 3 families includes serial MRI, electrophysiologic testing, muscle biopsy, full autopsy. Genetic workup included whole exome sequencing segregation analysis likely causal mutation.All showed muscular hypotonia, progressive cerebral atrophy, therapy-refractory epilepsy. Three had congenital contractures....
Background/Purpose: Two sisters, born as second and third child of parents without known consanguinity exhibited marked muscular hypotonia with pronounced contractures respiratory failure right after birth. CK was found to be normal. Biopsy quadriceps muscle showed an unspecific myopathic pattern. Electrophysiologic testing pathologic decrement, but treatment pyridostigmine led only temporary improvement. Both sisters developed progressive therapy-refractory seizures hypsarrhythmia in EEG...
Transaminases increase: a manifestation of Duchenne's muscular dystrophy commonly used in clinical practice, glutamic oxalacetic (got) and piruvic (gpt) transaminases are produced various body tissues, including striated muscle, so their blood elevation is not due exclusively to liver disease.the objective this study demonstrate the correlation between elevated creatinkinase (cK) patients with diagnosis duchenne (dMd), most frequent neuromuscular disease children.Patients Method: assessment...
Aims: Autosomal recessive mutations in Anoctamin-5 gene which cause a limb-girdle muscular dystrophy (LGMD2L) or distal myopathy, have recently been described. The previously published cases exclusively reported patients where the onset was after age of 11. In this case report we notify first example an early manifestation LGMD with not described mutation gene.