2023
Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy
Boock V, Roy B, Pfeffer G, Kimonis V. Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy. Current Opinion In Neurology 2023, 36: 432-440. PMID: 37678339, DOI: 10.1097/wco.0000000000001184.Peer-Reviewed Original ResearchConceptsInclusion body myopathyPotential therapeutic targetValosin-containing proteinPaget's diseasePreclinical modelsTherapeutic approachesPotential therapyControl trialRare diseaseTherapeutic targetBody myopathyVivo modelFrontotemporal dementiaVCP mutationsMultisystem proteinopathyPathway involvementDiseaseTherapyMitochondrial dysfunctionTherapeutic developmentGene therapyMissense mutationsFunction activityATPase activityRCTs
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