2024
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, 196: e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.Peer-Reviewed Original ResearchExome sequencingConsanguineous Pakistani familyDisease-causing genesFamily segregation analysisAssociated with phenotypesAffected individualsAccurate molecular diagnosisACMG criteriaCandidate variantsGenomic studiesPakistani familyGenomic researchGenetic heterogeneityNovel variantsSegregation analysisConsanguineous familyGenetic variantsNeurodevelopmental disordersHomozygous variantNeuromuscular disordersMiddle-income countriesMolecular diagnosisExomeES dataClinical phenotypeChapter 27 Sleep and neuromuscular disease
Kryger M, Avidan A, Lussier B, Lee W. Chapter 27 Sleep and neuromuscular disease. 2024, 271-284.e1. DOI: 10.1016/b978-0-323-65403-6.00036-6.ChaptersNeuromuscular diseaseNoninvasive ventilationNeuromuscular disordersSleep medicine careUnderlying neuromuscular disorderQuality of lifeUnderlying diseaseSleep clinicPatient populationLongitudinal careSleep disordersSleep qualityMedicine careSleep laboratorySleep cliniciansDiagnostic approachGlobal recommendationsComplicated anatomyMask interfaceDiseaseDisordersPatientsSpecialty trainingSleepCare
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 choiceThe 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 activitiesElectrical impedance myography detects age-related skeletal muscle atrophy in adult zebrafish
Rutkove S, Callegari S, Concepcion H, Mourey T, Widrick J, Nagy J, Nath A. Electrical impedance myography detects age-related skeletal muscle atrophy in adult zebrafish. Scientific Reports 2023, 13: 7191. PMID: 37137956, PMCID: PMC10156759, DOI: 10.1038/s41598-023-34119-6.Peer-Reviewed Original ResearchConceptsAge-related skeletal muscle atrophyMuscle functionLoss of muscle massAssociated with fallsSkeletal muscle atrophyEvaluate potential therapeuticsSkeletal muscle functionTotal muscle areaMechanism of muscle degenerationClinical studiesMuscle atrophyMuscle degenerationMuscle healthMuscle massElectrical impedance myographyReplication cohortBioelectric propertiesFunctional declineNeuromuscular disordersSkeletal muscleDisease mechanismsImpedance myographySarcopeniaMuscle areaAge-related deficits
2022
Neuromuscular disorders: finding the missing genetic diagnoses
Koczwara KE, Lake NJ, DeSimone AM, Lek M. Neuromuscular disorders: finding the missing genetic diagnoses. Trends In Genetics 2022, 38: 956-971. PMID: 35908999, DOI: 10.1016/j.tig.2022.07.001.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHigh-throughput functional screeningDiscovery of hundredsGenetic diagnosisNMD genesNext-generation sequencingFunctional screeningSequencing technologiesPathogenic variantsNeuromuscular disordersGroup of diseasesGenesSequencingFuture approachesLarge numberRecent advancementsDiscoveryVariantsYieldElectrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values
Arends S, Drenthen J, van den Bergh P, Franssen H, Hadden R, Islam B, Kuwabara S, Reisin R, Shahrizaila N, Amino H, Antonini G, Attarian S, Balducci C, Barroso F, Bertorini T, Binda D, Brannagan T, Buermann J, Casasnovas C, Cavaletti G, Chao C, Dimachkie M, Fulgenzi E, Galassi G, Gutiérrez G, Harbo T, Hartung H, Hsieh S, Kiers L, Lehmann H, Manganelli F, Marfia G, Mataluni G, Pardo J, Péréon Y, Rajabally Y, Santoro L, Sekiguchi Y, Stein B, Stettner M, Uncini A, Verboon C, Verhamme C, Vytopil M, Waheed W, Wang M, Zivkovic S, Jacobs B, Cornblath D, consortium T, Addington J, Ajroud-Driss S, Andersen H, Antonini G, Attarian S, Badrising U, Balloy G, Barroso F, Bateman K, Bella I, Benedetti L, van den Bergh P, Bertorini T, Bhavaraju-Sanka R, Bianco M, Brannagan T, Briani C, Buerrmann, Busby M, Butterworth S, Casasnovas C, Cavaletti G, Chao C, Chavada G, Chen S, Claeys K, Conti M, Cornblath D, Cosgrove J, Dalakas M, van Damme P, Dardiotis E, Davidson A, Derejko M, van Dijk G, Dimachkie M, van Doorn P, de la Cour C, Echaniz-Laguna A, Eftimov F, Faber C, Fazio R, Feasby T, Fokke C, Fujioka T, Fulgenzi E, Galassi G, Garcia-Sobrino T, Garssen M, Gijsbers C, Gilchrist J, Gilhuis H, Goldstein J, Gorson K, Goyal N, Granit V, Grisanti S, Gutiérrez-Gutiérrez, Gutmann L, Hadden R, Harbo T, Hartung H, Holbech J, Holt J, Hsieh S, Htut M, Hughes R, Illa I, Islam B, Islam Z, Jacobs B, Fehmi J, Jellema K, Pascual I, Kaida K, Karafiath S, Katzberg H, Khoshnoodi M, Kiers L, Kimpinski K, Kleyweg R, Kokubun N, Kolb N, van Koningsveld R, van der Kooi A, Kramers J, Kuitwaard K, Kusunoki S, Kuwabara S, Kwan J, Ladha S, Lassen L, Lawson V, Lehmann H, Pan E, Lunn M, Manji H, Marfia G, Infante C, Martin-Aguilar L, Hernandez E, Mataluni G, Mattiazi M, McDermott C, Meekins G, Miller J, Mohammad Q, Monges M, de la Tassa G, Nascimbene C, Navacerrada-Barrero F, Nobile-Orazio E, Nowak R, Orizaola P, Osei-Bonsu M, Pardal A, Pardo J, Pascuzzi R, Péréon Y, Pulley M, Querol L, Reddel S, van der Ree T, Reisin R, Rinaldi S, Roberts R, Rojas-Marcos I, Rudnicki, Sachs G, Samijn J, Santoro L, Schenone A, Tous M, Shahrizaila N, Sheikh K, Silvestri N, Sindrup S, Sommer C, Stein B, Song Y, Stino A, Tankisi H, Tannemaat M, Twydell P, Vélez-Santamaria P, Varrato J, Vermeij F, Visser L, Vytopil M, Waheed W, Walgaard C, Wang Y, Willison H, Wirtz P, Yamagishi Y, Zhou L, Zivkovic S. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values. Clinical Neurophysiology 2022, 138: 231-240. PMID: 35078730, DOI: 10.1016/j.clinph.2021.12.014.Peer-Reviewed Original Research
2021
Influenza 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 practicesDoctor—Should I get the COVID‐19 vaccine? Infection and immunization in individuals with neuromuscular disorders
Živković S, Gruener G, Narayanaswami P, Committee T. Doctor—Should I get the COVID‐19 vaccine? Infection and immunization in individuals with neuromuscular disorders. Muscle & Nerve 2021, 63: 294-303. PMID: 33471383, PMCID: PMC8013955, DOI: 10.1002/mus.27179.Peer-Reviewed Original ResearchConceptsEfficacy of immunizationNeuromuscular disordersVaccine-preventable infectionsImmunosuppressive/immunomodulating therapiesImmunocompetent individualsClinical courseCoronavirus disease-2019Reduced immunocompetenceReduced efficacyInfectionCOVID-19 vaccineImmunityVaccination programVaccineCOVID-19Efficacy
2020
Immunosuppression in chronic autoimmune neurological disorders during the COVID-19 pandemic
Kovvuru S, Nalleballe K, Onteddu SR, Sharma R, Jasti M, Kapoor N, Veerapaneni K, Yadala S, Dandu V, Archer R, Nowak RJ, Roy B. Immunosuppression in chronic autoimmune neurological disorders during the COVID-19 pandemic. Journal Of The Neurological Sciences 2020, 420: 117230. PMID: 33256952, PMCID: PMC7837234, DOI: 10.1016/j.jns.2020.117230.Peer-Reviewed Original ResearchConceptsAutoimmune neuromuscular disorderImmunosuppressive therapyMultiple sclerosisChronic autoimmune neuromuscular disorderNeuromuscular disordersCOVID-19Electronic medical record dataAutoimmune neurological disordersRisk of hospitalizationOverall infection riskMedical record dataRegistry-based dataCorona Virus Disease 2019Expert opinion guidelinesCOVID-19 databaseClinical research platformImmunosuppressed patientsImmunotherapy regimensAdditional physiciansDisease 2019Diseases-10International ClassificationPatientsNeurological disordersHospitalization
2019
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
Jiang J, Huang J, Gu J, Cai X, Zhao H, Lu H. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. BMC Medical Genomics 2019, 20: 204. PMID: 31888525, PMCID: PMC6938020, DOI: 10.1186/s12881-019-0935-3.Peer-Reviewed Original ResearchConceptsSMA casesHeterozygous mutationsInternational SMA ConsortiumBackgroundSpinal muscular atrophyDifferent clinical typesRare neuromuscular disorderCopies of SMN2Compound heterozygous mutationsWhole-exome sequencingSeverity of SMAGenomic analysisFemale patientsMale patientsClinical typesCase reportAccurate counselingRare caseMouse modelDiagnostic criteriaMuscular functionPatientsGrowth differentiation factor 8Neuromuscular disordersSMA patientsMuscular atrophy
2013
Patients Hospitalized With Laboratory-Confirmed Influenza During the 2010–2011 Influenza Season: Exploring Disease Severity by Virus Type and Subtype
Chaves SS, Aragon D, Bennett N, Cooper T, D'Mello T, Farley M, Fowler B, Hancock E, Kirley PD, Lynfield R, Ryan P, Schaffner W, Sharangpani R, Tengelsen L, Thomas A, Thurston D, Williams J, Yousey-Hindes K, Zansky S, Finelli L. Patients Hospitalized With Laboratory-Confirmed Influenza During the 2010–2011 Influenza Season: Exploring Disease Severity by Virus Type and Subtype. The Journal Of Infectious Diseases 2013, 208: 1305-1314. PMID: 23863950, DOI: 10.1093/infdis/jit316.Peer-Reviewed Original ResearchConceptsVirus type/subtypeAntiviral treatmentTypes/subtypesInfluenza seasonMedical conditionsNeuromuscular disordersOdds of severityPrompt antiviral treatmentChronic lung diseaseChronic metabolic diseaseHospitalized patientsIndependent predictorsMultivariable analysisInfluenza preventionLung diseasePopulation immunityB virusSevere diseaseHealthcare seekingMetabolic diseasesDisease severityVirus typeSurveillance dataVirus strainsPatients
1996
Stiff-Man Syndrome and Glutamic Acid Decarboxylase: An Updated View
Solimena M, Dirkx R, Butler M, Hermel J, Guernaccia J, Marek K, David C, De Camilli P. Stiff-Man Syndrome and Glutamic Acid Decarboxylase: An Updated View. Advances In Pharmacological Sciences 1996, 31-43. DOI: 10.1007/978-3-0348-8990-2_5.Peer-Reviewed Original Research
1991
Central sleep apnoea in congenital muscular dystrophy.
Kryger M, Steljes D, Yee W, Mate E, Smith S, Mahowald M. Central sleep apnoea in congenital muscular dystrophy. Journal Of Neurology Neurosurgery & Psychiatry 1991, 54: 710. PMID: 1940943, PMCID: PMC1014476, DOI: 10.1136/jnnp.54.8.710.Peer-Reviewed Original ResearchConceptsCentral sleep apnoeaSleep-disordered breathingCongenital muscular dystrophyMorning headachesSleep apnoeaNocturnal seizuresCongestive heart failureMuscular dystrophyPulmonary hypertensionClinical weaknessHeart failureExcessive daytimeNeuromuscular syndromeRespiratory dysfunctionNeuromuscular disordersApnoeaHeadacheSeizuresSymptomsBreathingDystrophyHypertensionDysfunctionSyndrome
1989
Severe neuropathy in a patient with acquired immune deficiency syndrome (AIDS)
Robert M, Geraghty J, Miles S, Cornford M, Vinters H. Severe neuropathy in a patient with acquired immune deficiency syndrome (AIDS). Acta Neuropathologica 1989, 79: 255-261. PMID: 2558484, DOI: 10.1007/bf00294659.Peer-Reviewed Original ResearchConceptsAcquired Immune Deficiency SyndromeImmune deficiency syndromeAnterior horn cellsDeficiency syndromeHorn cellsAcquired immune deficiency syndrome patientsSevere peripheral neuropathyNeuromuscular diseasePeripheral nervous systemProgressive neuromuscular disorderCMV infectionHIV infectionSevere neuropathyImmunohistochemical stainingPeripheral neuropathyMuscle wastingSpinal cordPathogenetic mechanismsPatientsPeripheral nervesNervous systemSyndromeNeuromuscular disordersSevere weaknessCell complement
1987
Physiological effects of 4‐aminopyridine on demyelinated mammalian motor and sensory fibers
Bowe C, Kocsis J, Targ E, Waxman S. Physiological effects of 4‐aminopyridine on demyelinated mammalian motor and sensory fibers. Annals Of Neurology 1987, 22: 264-268. PMID: 2821876, DOI: 10.1002/ana.410220212.Peer-Reviewed Original ResearchConceptsSensory fibersClinical trialsAction potentialsPotassium channel blockadeDorsal root axonsCompound action potentialDorsal spinal rootsSingle action potentialMammalian motorIntrathecal injectionMultiple sclerosisSensory dysfunctionVentral rootsSpinal rootsNeuromuscular disordersSpecific fiber typesElectrophysiological responsesSingle stimulusPhysiological effectsTrialsFiber typesResponseParesthesiaSclerosisDysfunction
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