Claudia Weiss

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 35 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.

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.

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

Risdiplam Add-On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi-Center Case Series.

Risdiplam Add-On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi-Center Case Series.

Journal: Muscle & nerve

Published: July 23, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

3D Electron Microscopic Visualization of Nemaline Rods in a Case of Congenital Myopathy.

3D Electron Microscopic Visualization of Nemaline Rods in a Case of Congenital Myopathy.

Journal: Neurology

Published: May 12, 2025

The use of carbogen for interruption of febrile seizures - the randomized controlled CARDIF trial.

The use of carbogen for interruption of febrile seizures - the randomized controlled CARDIF trial.

Journal: PloS one

Published: April 24, 2025

The expanding clinical utility of blood neurofilament light chain (bNfL): a multi-disciplinary diagnostic tool.

The expanding clinical utility of blood neurofilament light chain (bNfL): a multi-disciplinary diagnostic tool.

Journal: Journal of the neurological sciences

Published: March 25, 2025

Scoliosis development in 5q-spinal muscular atrophy under disease modifying therapies.

Scoliosis development in 5q-spinal muscular atrophy under disease modifying therapies.

Journal: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society

Published: September 26, 2024

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.

Journal: The Lancet regional health. Europe

Published: June 28, 2024

A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1: Almost Overlooked.

A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1: Almost Overlooked.

Journal: Neurology

Published: May 16, 2024

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Journal: JAMA pediatrics

Published: April 08, 2024

MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.

MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.

Journal: Journal of inherited metabolic disease

Published: March 28, 2024

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Last Updated: 09/26/2026