Associated Papers
Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.
Abdoalsadig E et al.
Orphanet Journal of Rare Diseases, 2025
Parkinson's disease and chronic inflammatory demyelinating polyneuropathy: Broadening the clinical spectrum of VCP mutations.
Gallo S et al.
Parkinsonism & Related Disorders, 2024
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
Rufibach L et al.
Journal of Personalized Medicine, 2023
36983702 (PubMed )
Supplement: jpm-13-00520-s001.zip › Supplementary_tables_S1-S4.xlsx › Table_S2_-_RNA-Seq_data
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
Columbres RCA et al.
Genes, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_3.xlsx › Sheet1
The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).
Johnson MA et al.
Neurobiology of Disease, 2022
35405261 (PubMed )
Supplement: NIHMS1812088-supplement-1.pdf
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