Janbernd Kirschner
Freiburg, BW, Germany
Last Updated: 09/26/2026
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Found 196 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
Beyond dystrophin: cell therapy for Duchenne muscular dystrophy.
Journal: Lancet (London, England)
Published: August 02, 2026
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.
Journal: EClinicalMedicine
Published: December 17, 2025
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
Using Latent Representations to Link Disjoint Longitudinal Data for Mixed-Effects Regression.
Journal: Statistics in medicine
Published: November 03, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Journal: Journal of neuromuscular diseases
Published: September 12, 2025
Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry.
Journal: Brain : a journal of neurology
Published: September 01, 2025
Physiotherapeutic management of patients with SMA: A questionnaire-based online survey among physiotherapists within the SMArtCARE network.
Journal: Journal of neuromuscular diseases
Published: August 20, 2025
Economic evaluation of next-generation sequencing technologies in pediatric patient groups with confirmed or possible rare diseases: A systematic literature review.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 11, 2025
In response to Gulcin Akinci's and Haluk Topaloglu's letter regarding our article "Predictors of loss of ambulation in Duchenne muscular dystrophy: A systematic review and meta-analysis".
Journal: Journal of neuromuscular diseases
Published: February 27, 2025
Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.
Journal: Orphanet journal of rare diseases
Published: February 23, 2025
The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey.
Journal: Orphanet journal of rare diseases
Published: January 17, 2025
Last Updated: 09/26/2026