David Muhmann
Essen, NW, Germany
Last Updated: 09/26/2026
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Found 9 publications
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.
Journal: Journal of neurology
Published: May 02, 2026
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.
Journal: European journal of neurology
Published: February 09, 2026
When muscles matter in SORD neuropathy.
Journal: Journal of neuropathology and experimental neurology
Published: January 20, 2026
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies.
Journal: Human molecular genetics
Published: November 18, 2025
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.
Journal: Journal of clinical medicine
Published: October 21, 2025
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.
Journal: Clinical genetics
Published: October 08, 2025
Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers.
Journal: Journal of neurology
Published: September 17, 2025
Schoolchildren from disadvantaged backgrounds present a loss of lean tissue mass and significant increase of body fat mass during the COVID-19 lockdown in Germany: results from the MEDdirect study.
Journal: World journal of pediatrics : WJP
Published: January 23, 2022
A Prospective Study Investigating Blood Patch Pleurodesis for Postoperative Air Leaks After Pulmonary Resection.
Journal: The Journal of surgical research
Published: January 10, 2020
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Last Updated: 09/26/2026