Marcus Deschauer

Ismaninger Str. 22
Munich, BY 81675, Germany

Last Updated: 09/26/2026

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Found 122 publications

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.

Journal: EBioMedicine
Published: February 26, 2026

Diagnostic Value of Muscle MRI in a Case of Very Late-Onset Becker Muscular Dystrophy.

Diagnostic Value of Muscle MRI in a Case of Very Late-Onset Becker Muscular Dystrophy.

Journal: Clinical neuroradiology
Published: November 25, 2025

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Journal: Journal of neuromuscular diseases
Published: September 12, 2025

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study.

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study.

Journal: European journal of neurology
Published: April 18, 2025

The Diverse Neuromuscular Spectrum of VPS13A Disease.

The Diverse Neuromuscular Spectrum of VPS13A Disease.

Journal: Annals of clinical and translational neurology
Published: April 02, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications
Published: March 31, 2025

Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.

Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.

Journal: Orphanet journal of rare diseases
Published: February 23, 2025

Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.

Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.

Journal: Acta neuropathologica communications
Published: February 18, 2025

Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.

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

Deep learning-based acceleration of muscle water T2 mapping in patients with neuromuscular diseases by more than 50% - translating quantitative MRI from research to clinical routine.

Deep learning-based acceleration of muscle water T2 mapping in patients with neuromuscular diseases by more than 50% - translating quantitative MRI from research to clinical routine.

Journal: PloS one
Published: August 20, 2024

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Journal: Brain : a journal of neurology
Published: June 08, 2024

Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.

Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.

Journal: The Lancet. Neurology
Published: May 23, 2024
Showing 1-12 of 122

Last Updated: 09/26/2026