2023
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz‐Manera J, Korb M, Wicklund M, Milone M, Freimer M, Kushlaf H, Villar‐Quiles R, Stojkovic T, Needham M, Palmio J, Lloyd T, Keung B, Mozaffar T, Weihl C, Kimonis V. Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy. Annals Of Clinical And Translational Neurology 2023, 10: 686-695. PMID: 37026610, PMCID: PMC10187720, DOI: 10.1002/acn3.51760.Peer-Reviewed Original ResearchConceptsVCP myopathyMultisystem proteinopathyPercent of patientsConsensus-based guidelinesOnly definitive wayHeterogeneous clinical phenotypesMagnetic resonance imagingMulti-gene panel sequencingAutosomal dominant patternRare genetic disorderPathogenic genetic variantsElectrodiagnostic studiesDisease mimicsLimb-girdle muscular dystrophy phenotypePatient advocacy organizationsVCP variantBone diseaseMuscle biopsyProvisional recommendationsDiagnostic uncertaintyPatient careClinical phenotypeMuscular dystrophy phenotypeResonance imagingMyopathy
2020
Exploring outcomes and characteristics of myasthenia gravis: Rationale, aims and design of registry – The EXPLORE-MG registry
Anil R, Kumar A, Alaparthi S, Sharma A, Nye JL, Roy B, O'Connor KC, Nowak RJ. Exploring outcomes and characteristics of myasthenia gravis: Rationale, aims and design of registry – The EXPLORE-MG registry. Journal Of The Neurological Sciences 2020, 414: 116830. PMID: 32388060, DOI: 10.1016/j.jns.2020.116830.Peer-Reviewed Original ResearchConceptsMyasthenia gravisMG patientsContemporary patient cohortKey clinical featuresMuscle-specific kinaseMG clinicClinical featuresGeneralized diseaseOutcomes RegistryPatient cohortPatient outcomesTreatment responsivenessTreatment outcomesTreatment strategiesRegistry dataEpidemiological dataInterim analysisData registryOcular diseasesPatientsCommon data elementsAcetylcholine receptorsRegistryPatient careDisease