Brunhilde Wirth

Brunhilde Wirth

Universität zu Köln - Köln / Germany
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 5109108
University of Cologne
person_outline Brunhilde Wirth's MOST POPULAR ARTICLES
1-) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy CL Lorson, E Hahnen, EJ Androphy, B Wirth Proceedings of the National Academy of Sciences 96 (11), 6307-6311, 1999 17211999
2-) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy M Feldkötter, V Schwarzer, R Wirth, TF Wienker, B Wirth The American Journal of Human Genetics 70 (2), 358-368, 2002 11212002
3-) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ... Neuromuscular disorders 28 (2), 103-115, 2018 8442018
4-) An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)B WirthHuman mutation 15 (3), 228-237, 20008222000
5-) Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethicsRS Finkel, E Mercuri, OH Meyer, AK Simonds, MK Schroth, RJ Graham, ...Neuromuscular Disorders 28 (3), 197-207, 20186712018