Elke Hobbiebrunken
Goettingen, NI, Germany
Last Updated: 09/26/2026
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Found 14 publications
Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study.
Journal: Journal of neuromuscular diseases
Published: July 03, 2026
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Journal: Journal of neuromuscular diseases
Published: September 12, 2025
Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.
Journal: Neurology
Published: February 13, 2025
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Journal: Neuropediatrics
Published: December 01, 2021
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy.
Journal: Neuromuscular disorders : NMD
Published: September 23, 2021
Making sense of missense variants in TTN-related congenital myopathies.
Journal: Acta neuropathologica
Published: May 19, 2020
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
Journal: Journal of neuromuscular diseases
Published: November 21, 2019
Intrathecal Nursinersen Therapy in Children with Spinal Muscular Atrophy and Spinal Deformities
Journal: Klinische Padiatrie
Published: January 30, 2018
The Development of Extremely Premature Infants.
Journal: Deutsches Arzteblatt international
Published: April 04, 2016
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
Journal: Molecular cytogenetics
Published: August 27, 2014
Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study.
Journal: Neuromuscular disorders : NMD
Published: August 13, 2013
Last Updated: 09/26/2026