Deike Weiss
Hamburg, HH, Germany
Last Updated: 09/26/2026
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Found 14 publications
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 28, 2026
Swallowing development in infants and toddlers with spinal muscular atrophy following therapy compared to healthy controls: the prospective controlled DySMA trial.
Journal: Orphanet journal of rare diseases
Published: November 26, 2025
Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study.
Journal: Orphanet journal of rare diseases
Published: September 17, 2024
DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing.
Journal: Journal of neuromuscular diseases
Published: March 08, 2024
Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 12, 2024
Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis: A Case of Polyautoimmunity.
Journal: Neuropediatrics
Published: January 05, 2024
High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy.
Journal: Frontiers in pediatrics
Published: July 15, 2023
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
Journal: Molecular genetics and metabolism
Published: April 12, 2023
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
Journal: Neurogenetics
Published: January 30, 2023
Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy.
Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
Published: August 25, 2022
Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen.
Journal: Journal of cellular and molecular medicine
Published: March 17, 2021
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center.
Journal: Neuropediatrics
Published: December 04, 2020
Last Updated: 09/26/2026