Marianne Rohrbach
Zurich, ZH, Switzerland
Last Updated: 09/26/2026
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Found 72 publications
Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.
Journal: Journal of neuromuscular diseases
Published: August 29, 2026
Diverging pathomechanisms underlying collagen I-related and MBTPS2-related osteogenesis imperfecta: insights from patient-derived fibroblasts and iPSC-based modelling of bone.
Journal: Frontiers in endocrinology
Published: May 21, 2026
Staged hybrid repair of a symptomatic post-traumatic aortic aneurysmatic lesion in a patient with late diagnosed connective tissue disorder.
Journal: Journal of cardiothoracic surgery
Published: March 01, 2026
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.
Journal: Neurology
Published: June 13, 2025
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.
Journal: Frontiers in neurology
Published: April 25, 2025
A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.
Journal: Molecular genetics and metabolism
Published: April 11, 2025
Pediatrics. Diagnosis of generalized joint hypermobility in children
Journal: Revue medicale suisse
Published: January 30, 2025
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.
Journal: American journal of medical genetics. Part A
Published: December 13, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
Journal: Journal of neurology
Published: July 19, 2024
Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.
Journal: Orphanet journal of rare diseases
Published: May 01, 2024
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.
Journal: Journal of inherited metabolic disease
Published: February 21, 2024
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).
Journal: Orphanet journal of rare diseases
Published: December 18, 2023
Last Updated: 09/26/2026