Cancer association as a risk factor for anti-HMGCR antibody-positive myopathy

M Kadoya, A Hida, M Hashimoto Maeda… - Neurology …, 2016 - AAN Enterprises
Objective: To show cancer association is a risk factor other than statin exposure for anti-3-
hydroxy-3-methylglutaryl coenzyme A reductase autoantibody-positive (anti-HMGCR Ab+) …

Loss of TDP-43 function and rimmed vacuoles persist after T cell depletion in a xenograft model of sporadic inclusion body myositis

KA Britson, JP Ling, KE Braunstein… - Science translational …, 2022 - science.org
Sporadic inclusion body myositis (IBM) is the most common acquired muscle disease in
adults over age 50, yet it remains unclear whether the disease is primarily driven by T cell …

[PDF][PDF] Neuronal VCP loss of function recapitulates FTLD-TDP pathology

A Wani, J Zhu, JD Ulrich, A Eteleeb, AD Sauerbeck… - Cell reports, 2021 - cell.com
The pathogenic mechanism by which dominant mutations in VCP cause multisystem
proteinopathy (MSP), a rare neurodegenerative disease that presents as fronto-temporal …

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

M Schiava, C Ikenaga, RN Villar-Quiles… - Journal of Neurology …, 2022 - jnnp.bmj.com
Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP
gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia …

Inflammatory myopathy with myasthenia gravis: thymoma association and polymyositis pathology

N Uchio, K Taira, C Ikenaga, M Kadoya… - Neurology …, 2018 - AAN Enterprises
Objective To provide evidence that idiopathic inflammatory myopathy (IM) with myasthenia
gravis (MG) frequently shows thymoma association and polymyositis (PM) pathology and …

Muscle transcriptomics shows overexpression of cadherin 1 in inclusion body myositis

C Ikenaga, H Date, M Kanagawa, J Mitsui… - Annals of …, 2022 - Wiley Online Library
Objective This study aimed to elucidate the molecular features of inclusion body myositis
(IBM). Methods We performed RNA sequencing analysis of muscle biopsy samples from 67 …

Clinical utility of anti‐cytosolic 5'‐nucleotidase 1A antibody in idiopathic inflammatory myopathies

C Ikenaga, AR Findlay, NA Goyal… - Annals of clinical …, 2021 - Wiley Online Library
Objective To define the clinicopathologic features and diagnostic utility associated with anti‐
cytosolic 5′‐nucleotidase 1A (NT5C1A) antibody seropositivity in idiopathic inflammatory …

Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology

C Ikenaga, A Kubota, M Kadoya, K Taira, N Uchio… - Neurology, 2017 - AAN Enterprises
Objective: To determine the clinical features of myositis patients with the histopathologic
finding of CD8-positive T cells invading non-necrotic muscle fibers expressing major …

[HTML][HTML] Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

D Esteller, M Schiava, J Verdú-Díaz… - Journal of …, 2023 - Springer
Background The diagnosis of patients with mutations in the VCP gene can be complicated
due to their broad phenotypic spectrum including myopathy, motor neuron disease and …

Clinical classification of variants in the valosin-containing protein gene associated with multisystem proteinopathy

M Schiava, C Ikenaga, A Topf… - Neurology …, 2023 - AAN Enterprises
Background and Objectives Pathogenic variants in the valosin-containing protein (VCP)
gene cause a phenotypically heterogeneous disorder that includes myopathy, motor neuron …