Corinna Stoltenburg
Berlin, BE, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 19 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
Risdiplam Add-On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi-Center Case Series.
Journal: Muscle & nerve
Published: July 23, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.
Journal: Pediatric neurology
Published: December 08, 2024
Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 12, 2024
Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Journal: Pediatric neurology
Published: September 20, 2023
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: July 19, 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 06, 2023
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Journal: Journal of neuromuscular diseases
Published: December 24, 2022
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Journal: European journal of human genetics : EJHG
Published: November 09, 2022
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 25, 2022
Last Updated: 09/26/2026