Janbernd Kirschner

19PUBLICATIONS
135CO-AUTHORS
Gene and molecular therapyNeurogeneticsGene mappingStructural properties of condensed matterMolecular medicine
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Publications (19)

|Dec 23, 2025
Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry.

Cornelia Voigt-Müller, Michelle Pfaffenlehner, Günther Bernert

|Sep 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Benedikt Becker, Isabell Cordts, Jutta Becker

|May 15, 2025
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

Christina Saier, Stefaan Sansen, Joanne Berghout

|Apr 03, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

|May 11, 2024
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam.

Claudia A Chiriboga, Claudio Bruno, Tina Duong

|Apr 20, 2024
Patient preferences in genetic newborn screening for rare diseases: study protocol.

Sylvia Martin, Emanuele Angolini, Jennifer Audi

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Frequent Collaborators

4 joint publications

Eugenio Mercuri

3 joint publications

Francesco Muntoni

3 joint publications

Anna Kostera-Pruszczyk

3 joint publications

Heidemarie Kletzl