Dirk Fischer
Division of Neuropediatrics
University of Basel Children's Hospital
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Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
European journal of medical genetics May, 2013 | Pubmed ID: 23454272
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
Neuromuscular disorders : NMD Apr, 2014 | Pubmed ID: 24556424
Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD Sep, 2015 | Pubmed ID: 26096788
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
BMC neurology Oct, 2015 | Pubmed ID: 26444858
Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study.
PloS one , 2016 | Pubmed ID: 26799743
The 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study.
Neuromuscular disorders : NMD 07, 2016 | Pubmed ID: 27209345
Treatment with L-citrulline and metformin in Duchenne muscular dystrophy: study protocol for a single-centre, randomised, placebo-controlled trial.
Trials 08, 2016 | Pubmed ID: 27488051
Ultrasonographic reference values for peripheral nerves and nerve roots in the normal population of children and adolescents: study protocol for an observational-prospective trial.
BMJ open 12, 2016 | Pubmed ID: 27940636
Feasibility of Using Microsoft Kinect to Assess Upper Limb Movement in Type III Spinal Muscular Atrophy Patients.
PloS one , 2017 | Pubmed ID: 28122039
Treatment with L-citrulline in patients with post-polio syndrome: study protocol for a single-center, randomised, placebo-controlled, double-blind trial.
Trials Mar, 2017 | Pubmed ID: 28274276
Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy.
Journal of neurology Oct, 2017 | Pubmed ID: 28669118
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis.
Neuromuscular disorders : NMD Jan, 2018 | Pubmed ID: 29174526
An Objective and Child-friendly Assessment of Arm Function by Using a 3-D Sensor
Xing Chen1,
Detlef Wolf1,
Juliane Siebourg-Polster2,
Christian Czech3,
Ulrike Bonati4,5,
Dirk Fischer4,5,
Omar Khwaja6,
Martin Strahm1
1Data Science, Roche Pharmaceutical Research and Early Development Informatics, Roche Innovation Center Basel, F. Hoffmann-La Roche, Ltd.,
2Translational Technologies and Bioinformatics, Pharmaceutical Sciences, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Ltd.,
3Biomarker Experimental Medicine, Neuroscience, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Ltd.,
4Division of Neuropediatrics, University of Basel Children's Hospital,
5Department of Neurology, University of Basel Hospital,
6Translational Medicine, Neuroscience and Rare Diseases, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Ltd.
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Sara Nagy1,2,
Simone Schmidt1,2,
Patricia Hafner1,3,
Andrea Klein1,4,5,
Daniela Rubino-Nacht1,
Vanya Gocheva1,
Oliver Bieri6,
Carole Vuillerot7,
Ulrike Bonati1,2,
Dirk Fischer1,2,3
1Division of Pediatric Neurology, University Children's Hospital Basel (UKBB), University of Basel,
2Department of Neurology, University Hospital Basel, University of Basel,
3Division of Neurology, University Clinic of Medicine, Cantonal Hospital Baselland, Bruderholz,
4Division of Pediatric Neurology, CHUV,
5Division of Neuropaediatrics, Inselspital, University Children's Hospital Bern,
6Department of Radiology, Division of Radiological Physics, University Hospital Basel, University of Basel,
7Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, L'Escale, Service de Médecine Physique et de Réadaptation Pédiatrique
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