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Dirk Fischer

Division of Neuropediatrics

University of Basel Children's Hospital

BIOGRAPHY

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PUBLICATIONS

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

INSTITUTIONS

University of Basel Children's Hospital

University of Basel Hospital

University of Basel

Cantonal Hospital Baselland, Bruderholz

JOVE ARTICLES

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 Bonati^4,5,

Dirk Fischer^4,5,

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.

Behavior

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Sara Nagy^1,2,

Simone Schmidt^1,2,

Patricia Hafner^1,3,

Andrea Klein^1,4,5,

Daniela Rubino-Nacht¹,

Vanya Gocheva¹,

Oliver Bieri⁶,

Carole Vuillerot⁷,

Ulrike Bonati^1,2,

Dirk Fischer^1,2,3

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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Dirk Fischer

.css-o250i3{font-size:18px;font-family:Open Sans,sans-serif;line-height:21.6px;}Division of Neuropediatrics

University of Basel Children's Hospital

An Objective and Child-friendly Assessment of Arm Function by Using a 3-D Sensor

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Division of Neuropediatrics