Andreas H. Roos

Otto Hahn Str. 6b
Dortmund, NW 44227, Germany

Last Updated: 09/26/2026

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Found 194 publications

Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy.

Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 15, 2026

Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

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

Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking.

Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking.

Journal: Biomolecules

Published: May 01, 2026

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Journal: Brain : a journal of neurology

Published: February 10, 2026

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

Journal: European journal of neurology

Published: February 09, 2026

Drug-induced autophagic myopathies: Exploring pathophysiology with immunolabelling and proteomics.

Drug-induced autophagic myopathies: Exploring pathophysiology with immunolabelling and proteomics.

Journal: Journal of neuropathology and experimental neurology

Published: January 29, 2026

When muscles matter in SORD neuropathy.

When muscles matter in SORD neuropathy.

Journal: Journal of neuropathology and experimental neurology

Published: January 20, 2026

Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity.

Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity.

Journal: Journal of neuromuscular diseases

Published: January 16, 2026

Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance.

Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance.

Journal: Journal of neuromuscular diseases

Published: January 16, 2026

A dose-escalation and safety gene therapy study in a model of CMT4C neuropathy.

A dose-escalation and safety gene therapy study in a model of CMT4C neuropathy.

Journal: Gene therapy

Published: December 11, 2025

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Journal: Journal of neuropathology and experimental neurology

Published: November 27, 2025

Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis.

Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis.

Journal: Acta neuropathologica

Published: November 18, 2025

Showing 1-12 of 194

Last Updated: 09/26/2026