Cornelia Kohler
St Josef Hospital
Bochum, NW, Germany
Bochum, NW, Germany
Last Updated: 09/26/2026
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Found 28 publications
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland - part II - expert based recommendations for surveillance and management of side-effects.
Journal: Journal of neuromuscular diseases
Published: August 27, 2026
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: Journal of neuromuscular diseases
Published: November 24, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Journal: Journal of neuromuscular diseases
Published: September 12, 2025
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.
Journal: International journal of molecular sciences
Published: July 31, 2024
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.
Journal: The Lancet regional health. Europe
Published: June 28, 2024
Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening.
Journal: Orphanet journal of rare diseases
Published: June 11, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Journal: Journal of neurology
Published: October 30, 2023
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Journal: The Lancet regional health. Europe
Published: October 24, 2023
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.
Journal: International journal of molecular sciences
Published: September 01, 2023
Diagnosis and Management of Late-Onset Pompe Disease
Journal: Fortschritte der Neurologie-Psychiatrie
Published: July 26, 2023
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.
Journal: Epilepsy & behavior : E&B
Published: July 14, 2023
Last Updated: 09/26/2026