Christian Rauscher
Salzburg, Austria
Last Updated: 09/26/2026
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Found 13 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
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
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Journal: Journal of neurology
Published: October 30, 2023
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Journal: The Lancet regional health. Europe
Published: October 24, 2023
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Journal: Orphanet journal of rare diseases
Published: February 16, 2022
Prevalence of comorbidities, and affective disorders in epilepsy: A latent class analysis approach.
Journal: Epilepsy research
Published: January 14, 2022
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Journal: The Lancet. Child & adolescent health
Published: July 19, 2021
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
Journal: Seizure
Published: January 02, 2021
Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.
Journal: Seizure
Published: July 17, 2016
CAD mutations and uridine-responsive epileptic encephalopathy.
Journal: Brain : a journal of neurology
Published: July 04, 2016
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Journal: Orphanet journal of rare diseases
Published: December 17, 2014
Last Updated: 09/26/2026