Kolbel, Heike

Top Publications

Top Publications Authored or Co-Authored by "Kolbel, Heike"

• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

  Genetics in Medicine, Volume 22, No. 9, Year 2020, Citations 99
• Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

  European Journal of Neurology, Volume 29, No. 7, Year 2022, Citations 14
• Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain

  Muscle and Nerve, Volume 61, No. 2, Year 2020, Citations 10
• Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

  Brain, Volume 146, No. 2, Year 2023, Citations 10
• Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany

  Journal of Neuromuscular Diseases, Volume 10, No. 1, Year 2023, Citations 8