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 ResearchMeSH KeywordsFrontotemporal DementiaGenetic TherapyHumansMuscular Dystrophies, Limb-GirdleValosin Containing ProteinConceptsInclusion 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
2019
Clinical Reasoning: Progressive proximal weakness in a 56-year-old man with bone pain
Torabi T, Huttner A, Nowak RJ, Roy B. Clinical Reasoning: Progressive proximal weakness in a 56-year-old man with bone pain. Neurology 2019, 93: 939-944. PMID: 31740511, DOI: 10.1212/wnl.0000000000008535.Peer-Reviewed Original ResearchDiagnosis, DifferentialElectromyographyFrontotemporal DementiaHumansLambert-Eaton Myasthenic SyndromeMaleMiddle AgedMuscle WeaknessMuscular Dystrophies, Limb-GirdleMyositisMyositis, Inclusion BodyOsteitis DeformansPainPolyradiculoneuropathy, Chronic Inflammatory DemyelinatingValosin Containing Protein