Jessika Johannsen

6PUBLICATIONS
40CO-AUTHORS
NeurogeneticsPacific Peoples youth and familyNeurology and neuromuscular diseasesInfant and child healthDevelopmental genetics (incl. sex determination)
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Publications (6)

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

Benedikt Becker, Isabell Cordts, Jutta Becker

|Apr 13, 2023
Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy.

Laura Inhestern, Maja Brandt, Joenna Driemeyer

|Jul 27, 2021
Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen.

Jessika Johannsen, Deike Weiss, Anne Daubmann

|Jul 11, 2020
The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?

Jessika Johannsen, Lena Fuhrmann, Benjamin Grolle

|Mar 17, 2020
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.

Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals

|May 30, 2018
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.

Jessika Johannsen, Fanny Kortüm, Georg Rosenberger

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Frequent Collaborators

1 joint publications

Pierre Coste de Bagneaux

1 joint publications

Leonie von Elsner

1 joint publications

Tatjana Bierhals

1 joint publications

Marta Campiglio