Profil bibliographique

Cornelia Köhler

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

53Publications signalées

702Citations signalées

2Affiliations récentes

Institutions déclarées

University Hospitals of the Ruhr-University of Bochum Ruhr University Bochum

Domaines associés

Neurogenetic and Muscular Disorders ResearchCardiomyopathy and Myosin StudiesMuscle Physiology and DisordersRNA modifications and cancerMetabolism and Genetic Disorders

Publications récentes

Accès ouvert 2026 articleOpenAlex

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

Andreas Ziegler, Claudia Weiß, Katharina Vill, Matthias Baumann et autres

0 citationsJournal of Neuromuscular Diseases

Accès ouvert 2026 reviewOpenAlex

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

Claudia Weiß, Katharina Vill, Matthias Baumann, Günther Bernert et autres

0 citationsZurich Open Repository and Archive (University of Zurich)

Accès ouvert 2025 reviewOpenAlex

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

Claudia Weiß, Katharina Vill, Matthias Baumann, Günther Bernert et autres

4 citationsJournal of Neuromuscular Diseases

Accès ouvert 2025 articleOpenAlex

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study

Benedikt Becker, Isabell Cordts, Jutta Becker, René Günther et autres

1 citationJournal of Neuromuscular Diseases

2025 articleOpenAlex

Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe

Philipp Hahn, Rainer-Georg Siefen, Korbinian Benz, Jochen Jackowski et autres

0 citationsNervenheilkunde

Accès ouvert 2024 articleOpenAlex

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens et autres

2 citationsObstetrical & Gynecological Survey

Accès ouvert 2024 articleOpenAlex

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy

Sören Janßen, Leoni S. Erbe, Moritz Kneifel, Matthias Vorgerd et autres

1 citationInternational Journal of Molecular Sciences

Accès ouvert 2024 articleOpenAlex

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

Claudia Weiß, Lena‐Luise Becker, Johannes Friese, Astrid Blaschek et autres

31 citationsThe Lancet Regional Health - Europe

Accès ouvert 2024 articleOpenAlex

Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening

Regina Trollmann, Jessika Johannsen, Katharina Vill, Cornelia Köhler et autres

5 citationsOrphanet Journal of Rare Diseases

Accès ouvert 2024 articleOpenAlex

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy

Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens et autres

70 citationsArchives of Pediatrics and Adolescent Medicine

2024 articleOpenAlex

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

Helmut Neumann, Monika Daseking, Charlotte Thiels, Cornelia Köhler et autres

9 citationsEpilepsy & Behavior

Accès ouvert 2024 articleOpenAlex

Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study

René Günther, Claudia D. Wurster, Svenja Brakemeier, Alma Osmanovic et autres

65 citationsThe Lancet Regional Health - Europe

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