Cornelia Köhler

University Hospitals of the Ruhr-University of Bochum — Germany

Medicine · Health Sciences

15h-index609citations51works12.82yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(16), RNA modifications and cancer(13), Congenital Anomalies and Fetal Surgery(10), Muscle Physiology and Disorders(8), Cardiomyopathy and Myosin Studies(5)

Publications51 total

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence
Universität Zürich, ZORA·2025Open Access
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland—part I—systematic literature review and existing evidence
Journal of Neuromuscular Diseases·2025Open Access
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
Journal of Neuromuscular Diseases·2025· 1 citedOpen Access
Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe
Nervenheilkunde·2025
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
Obstetrical & Gynecological Survey·2024· 2 citedOpen Access
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy
International Journal of Molecular Sciences·2024Open Access
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
The Lancet Regional Health - Europe·2024· 21 citedOpen Access
Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
Orphanet Journal of Rare Diseases·2024· 5 citedOpen Access
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
JAMA Pediatrics·2024· 51 cited
Cognitive development in children with new-onset Rolandic epilepsy and Rolandic discharges without seizures: Focusing on intelligence, visual perception, working memory and the role of parents’ education
Epilepsy & Behavior·2024· 6 cited
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
The Lancet Regional Health - Europe·2024· 55 citedOpen Access
Real-World Data on the Efficacy of Gene Replacement Therapy for Spinal Muscular Atrophy (SMA)
Neuropediatrics·2023Open Access
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene
International Journal of Molecular Sciences·2023· 16 citedOpen Access
Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe
Fortschritte der Neurologie · Psychiatrie·2023
Seroprevalence of Binding and Neutralizing Antibodies against 39 Human Adenovirus Types in Patients with Neuromuscular Disorders
Viruses·2022· 12 citedOpen Access
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study
Journal of Neuromuscular Diseases·2022· 29 citedOpen Access
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
Journal of Neuromuscular Diseases·2022· 37 citedOpen Access
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Orphanet Journal of Rare Diseases·2022· 39 citedOpen Access
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy
Genes·2022· 4 citedOpen Access
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Brain·2022· 65 citedOpen Access
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Frequent Co-authors

Thomas Lücke(20), Günther Bernert(12), Marina Flotats‐Bastardas(12), Jessika Johannsen(12), Regina Trollmann(12), Janbernd Kirschner(12), Arpad von Moers(11), Andreas Ziegler(11), Matthias Baumann(10), Sabine Illsinger(10), Gudrun Schreiber(10), Oliver Schwartz(10), Claudia Weiß(10), Johannes Friese(10), Astrid Pechmann(10), Charlotte Thiels(10), Ulrike Schara‐Schmidt(9), Maggie C. Walter(9), Heike Kölbel(9), Wolfgang Müller‐Felber(9)