2024
Decoding the molecular script of 2′-O-ribomethylation: Implications across CNS disorders
Verma A, Roy B, Dwivedi Y. Decoding the molecular script of 2′-O-ribomethylation: Implications across CNS disorders. Heliyon 2024, 10: e39036. PMCID: PMC11550049, DOI: 10.1016/j.heliyon.2024.e39036.Peer-Reviewed Original ResearchRibosomal RNARibosome functionRibosomal RNA structuresPeptidyl transferase centerPost-transcriptional modificationsDefective ribosome biogenesisRibosome biogenesisRibosome integrityRNA modificationsRegulatory networksTranslational efficiencyDecoding siteImpaired mRNA translationMRNA translationBase modificationsPathophysiology of CNS disordersCNS disordersRNA integrityProtein synthesisRibosomal dysfunctionRNANeurodegenerative diseasesDisease pathologySpectrum of CNS disordersPrecision medicineTrial Design and Impact on Study Outcome: Post-hoc Analysis of the BeatMG Study Based on RINOMAX Trial Criteria (P4-11.004)
Roy B, Nowak R. Trial Design and Impact on Study Outcome: Post-hoc Analysis of the BeatMG Study Based on RINOMAX Trial Criteria (P4-11.004). Neurology 2024, 102 DOI: 10.1212/wnl.0000000000205956.Peer-Reviewed Original ResearchProteomic Analysis Reveals a Distinct Immunological Signature for Late-onset Myasthenia Gravis (S15.003)
Roy B, Habiabadi F, O’Connor K, Nowak R, Kaminski H. Proteomic Analysis Reveals a Distinct Immunological Signature for Late-onset Myasthenia Gravis (S15.003). Neurology 2024, 102 DOI: 10.1212/wnl.0000000000205944.Peer-Reviewed Original Research
2023
Plasmapheresis Versus Intravenous Immunoglobulin in Patients With Autoimmune Neuromuscular and Neuro-immunological Conditions
Zubair A, Rethana M, Ma A, McAlpine L, Abulaban A, Munro B, Patwa H, Nowak R, Roy B. Plasmapheresis Versus Intravenous Immunoglobulin in Patients With Autoimmune Neuromuscular and Neuro-immunological Conditions. Journal Of Clinical Neuromuscular Disease 2023, 25: 11-17. PMID: 37611265, DOI: 10.1097/cnd.0000000000000439.Peer-Reviewed Original ResearchConceptsNeuro-immunological diseaseIntravenous immunoglobulinAutoimmune neurological disordersAutoimmune neuromuscular disorderAdult patientsElderly patientsNeurological disordersNeuromuscular disordersChronic inflammatory demyelinating polyradiculoneuropathyNational Inpatient Sample databaseNational Inpatient Sample datasetInflammatory demyelinating polyradiculoneuropathySafe therapeutic choiceRetrospective chart reviewAppropriate clinical settingSide effect profileDemyelinating polyradiculoneuropathyIVIG useChart reviewYounger patientsMyasthenia gravisEffect profileMedical historyPrimary diagnosisTherapeutic choiceLeg MRI as a Complementary Diagnostic Tool in the Assessment of Foot Drop
Torabi T, Zubair A, Nowak R, Tseng B, Haims A, Roy B. Leg MRI as a Complementary Diagnostic Tool in the Assessment of Foot Drop. Journal Of Clinical Neuromuscular Disease 2023, 25: 57-58. PMID: 37611274, DOI: 10.1097/cnd.0000000000000433.Peer-Reviewed Original ResearchTherapeutic 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 activityRCTsThe Impact of COVID-19 on Families With Pediatric Muscular Dystrophy Patients
Zubair A, Scharer K, Lembeck P, Ionita C, Roy B. The Impact of COVID-19 on Families With Pediatric Muscular Dystrophy Patients. Cureus 2023, 15: e41138. PMID: 37519528, PMCID: PMC10386847, DOI: 10.7759/cureus.41138.Peer-Reviewed Original ResearchPediatric patientsCOVID-19 pandemicMuscular dystrophyCoronavirus disease 2019 (COVID-19) pandemicDisease 2019 pandemicParents/caregiversMuscular dystrophy patientsChart reviewCaregiver burdenHome ordersPerson visitsLong-term effectsNeuromuscular conditionsProvider careNeuromuscular disordersPatientsPsychosocial impactDystrophy patientsSchool closuresNeuromuscular disabilitiesMajority of familiesHealthcare servicesSocial distancing measuresCOVID-19Daily activitiesThe Plasma Cell Infiltrate Populating the Muscle Tissue of Patients with Inclusion Body Myositis Features Distinct B Cell Receptor Repertoire Properties
Jiang R, Roy B, Wu Q, Mohanty S, Nowak R, Shaw A, Kleinstein S, O’Connor K. The Plasma Cell Infiltrate Populating the Muscle Tissue of Patients with Inclusion Body Myositis Features Distinct B Cell Receptor Repertoire Properties. ImmunoHorizons 2023, 7: 310-322. PMID: 37171806, PMCID: PMC10579972, DOI: 10.4049/immunohorizons.2200078.Peer-Reviewed Original ResearchConceptsInclusion body myositisMemory B cellsCell infiltrateBody myositisB cellsIBM muscle biopsiesB-cell infiltratesPlasma cell infiltrateClass-switched IgGMuscle tissueAdaptive immune receptor repertoire sequencingHumoral responseHealthy controlsIgA isotypePlasma cellsCell repertoireMuscle biopsyInfiltratesDegenerative disordersDisease pathologyRepertoire sequencingSkeletal muscleDermatomyositisPolymyositisMyositisImaging biomarkers in the idiopathic inflammatory myopathies
Zubair A, Salam S, Dimachkie M, Machado P, Roy B. Imaging biomarkers in the idiopathic inflammatory myopathies. Frontiers In Neurology 2023, 14: 1146015. PMID: 37181575, PMCID: PMC10166883, DOI: 10.3389/fneur.2023.1146015.Peer-Reviewed Original ResearchIdiopathic inflammatory myopathiesManagement of IIMMagnetic resonance imagingElectrical impedance myographyPositron emission tomographyInflammatory myopathiesMuscle ultrasoundExtra-muscular manifestationsMuscle strength testingQuality of lifeObjective assessmentMuscle inflammationPatient managementTreatment responseBetter objective assessmentMuscle damageMuscle healthResonance imagingEmission tomographyClinical settingMuscle diseaseBiomarkersImpedance myographyMyopathyFurther validationProvisional 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
2022
A New Insight in Causal Pathways Following Subcortical Stroke: From Correlation to Causation.
Roy B, Marshall RS. A New Insight in Causal Pathways Following Subcortical Stroke: From Correlation to Causation. Neurology 2022 PMID: 36307227, DOI: 10.1212/WNL.0000000000201648.Peer-Reviewed Original ResearchIntravenous Immune Globulins vs Plasma Exchange Usage in Patients with Neuromuscular and Neuro-immunological Conditions (P4-13.007)
Rethana M, Zubair A, Ma A, McAlpine L, Abulaban A, Nowak R, Roy B. Intravenous Immune Globulins vs Plasma Exchange Usage in Patients with Neuromuscular and Neuro-immunological Conditions (P4-13.007). Neurology 2022, 98 DOI: 10.1212/wnl.98.18_supplement.2392.Peer-Reviewed Original ResearchHeterogeneity of Acetylcholine Receptor Autoantibody–Mediated Complement Activity in Patients With Myasthenia Gravis
Obaid AH, Zografou C, Vadysirisack DD, Munro-Sheldon B, Fichtner ML, Roy B, Philbrick WM, Bennett JL, Nowak RJ, O'Connor KC. Heterogeneity of Acetylcholine Receptor Autoantibody–Mediated Complement Activity in Patients With Myasthenia Gravis. Neurology Neuroimmunology & Neuroinflammation 2022, 9: e1169. PMID: 35473886, PMCID: PMC9128035, DOI: 10.1212/nxi.0000000000001169.Peer-Reviewed Original ResearchConceptsAChR autoantibodiesMyasthenia gravisDisease burdenComplement activityAcetylcholine receptor autoantibodiesAChR-MG patientsComplement inhibitor therapyLower autoantibody levelsClinical disease scoresSubset of patientsHealthy donor samplesCell-based assaysMost patient samplesMembrane attack complex formationModest positive associationMG subtypesAutoantibody levelsAutoantibody titersComplement membrane attack complex formationMG patientsInhibitor therapyReceptor autoantibodiesHD groupTherapeutic responseMAC formationReliability of patient self-reports to clinician-assigned functional scores of inclusion body myositis
Roy B, Zubair A, Petschke K, O'Connor KC, Paltiel AD, Nowak RJ. Reliability of patient self-reports to clinician-assigned functional scores of inclusion body myositis. Journal Of The Neurological Sciences 2022, 436: 120228. PMID: 35344793, DOI: 10.1016/j.jns.2022.120228.Peer-Reviewed Original ResearchConceptsIBM functional rating scaleInclusion body myositisBody myositisInterrater correlation coefficientSporadic inclusion body myositisFine motor skillsImpaired ambulationFleiss kappa statisticFunctional scoresHand functionDisease progressionWhite CaucasiansClinical practiceNatural history dataRating ScaleKappa statisticsMyositisScoresMotor skillsIndividual questionsSubstantial agreementCorrelation coefficient analysisReliable indicatorParticipantsAmbulationClinical Reasoning: A 73-Year-Old Woman With Episodic Dysarthria and Horizontal Binocular Diplopia
Bower AS, Fisayo A, Baehring JM, Roy B. Clinical Reasoning: A 73-Year-Old Woman With Episodic Dysarthria and Horizontal Binocular Diplopia. Neurology 2022, 98: 767-772. PMID: 35264421, DOI: 10.1212/wnl.0000000000200347.Peer-Reviewed Original ResearchConceptsEMG findingsHorizontal diplopiaHorizontal binocular diplopiaPeripheral nerve hyperexcitabilitySodium channel inhibitorsImpaired abductionTongue fasciculationsTransient dysarthriaElectrodiagnostic studiesTongue deviationSymptomatic reliefClinical presentationNerve hyperexcitabilityNeurologic examinationElectrographic seizuresRight eyeBinocular diplopiaInflammatory conditionsSymptom frequencyOlder womenTransient episodesAdditional episodesMyokymiaSpontaneous depolarizationsChannel inhibitorsDevelopment of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet Journal Of Rare Diseases 2022, 17: 23. PMID: 35093159, PMCID: PMC8800193, DOI: 10.1186/s13023-022-02172-5.Peer-Reviewed Original ResearchConceptsStandard of careAmyotrophic lateral sclerosisCharcot Marie Tooth diseaseMultisystem proteinopathyFrontotemporal dementiaSupportive therapyValosin-containing proteinMarie Tooth diseaseExpert consensus recommendationsRare inherited disorderInclusion body myopathyMulti-gene panel sequencingSingle-gene testingNeuromuscular centerAppropriate pharmacotherapyMultidisciplinary carePaget's diseaseSecondary complicationsVCP diseaseMultisystem involvementMovement disordersPatient advocacy organizationsPhysical therapyPractice guidelinesConsensus recommendations
2021
Ulnar neuropathy from accessory epitrochlearis anconeus muscle
Zubair AS, Wang A, Roy B. Ulnar neuropathy from accessory epitrochlearis anconeus muscle. Neurological Sciences 2021, 43: 2165-2166. PMID: 34786630, DOI: 10.1007/s10072-021-05713-1.Peer-Reviewed Original ResearchClinical Characteristics of TS-HDS and FGFR3 Antibodies in Chronic Inflammatory Neuropathies (5171)
Castillo Y, Tejedor I, Keung B, Tseng B, Nowak R, Roy B. Clinical Characteristics of TS-HDS and FGFR3 Antibodies in Chronic Inflammatory Neuropathies (5171). Neurology 2021, 96 DOI: 10.1212/wnl.96.15_supplement.5171.Peer-Reviewed Original ResearchCOVID-19 in patients with neurological disorders (4518)
Tommee C, Onteddu S, Nalleballe K, Siddamreddy S, Jasti M, Kovvuru S, Dandu V, Roy B. COVID-19 in patients with neurological disorders (4518). Neurology 2021, 96 DOI: 10.1212/wnl.96.15_supplement.4518.Peer-Reviewed Original ResearchInfluenza vaccination in autoimmune neuromuscular diseases: A survey of current practices and perceptions
Roy B, Litchman T, Torabi T, Nowak RJ. Influenza vaccination in autoimmune neuromuscular diseases: A survey of current practices and perceptions. Muscle & Nerve 2021, 63: 918-923. PMID: 33711167, DOI: 10.1002/mus.27224.Peer-Reviewed Original ResearchConceptsChronic inflammatory demyelinating polyneuropathyGuillain-Barré syndromeMyasthenia gravisInfluenza vaccinationInfluenza vaccineInflammatory demyelinating polyneuropathyAutoimmune neuromuscular diseaseAutoimmune neuromuscular disorderHistory of exacerbationsProfessional society recommendationsDemyelinating polyneuropathyGBS patientsVaccine recommendationsSociety recommendationsNeurology practitionersInternet-based surveyPatientsNeuromuscular diseaseUnmet needNeuromuscular disordersNeurologistsPractice settingsVaccinationVaccineRecommendation practices