2020
Utility of intrathecal baclofen pump in primary lateral sclerosis
Zubair AS, Raymond M, Patwa HS. Utility of intrathecal baclofen pump in primary lateral sclerosis. Journal Of The Neurological Sciences 2020, 420: 117227. PMID: 33239209, DOI: 10.1016/j.jns.2020.117227.Peer-Reviewed Original ResearchConceptsPrimary lateral sclerosisLateral sclerosisProgressive upper motor neuron dysfunctionLower motor neuron involvementUpper motor neuron dysfunctionMigration of catheterMotor neuron involvementIntrathecal baclofen pumpMotor neuron dysfunctionSpinal cord injuryLower extremity stiffnessAshworth scoreNeuron involvementBaclofen pumpIntrathecal baclofenClinical courseInsidious onsetMuscle spasticityPLS patientsNeuron dysfunctionCord injuryNeurologic conditionsClinical examinationEffective treatmentSpasticity
2018
Increased cerebral functional connectivity in ALS
Proudfoot M, Colclough G, Quinn A, Wuu J, Talbot K, Benatar M, Nobre A, Woolrich M, Turner M. Increased cerebral functional connectivity in ALS. Neurology 2018, 90: e1418-e1424. PMID: 29661904, PMCID: PMC5902786, DOI: 10.1212/wnl.0000000000005333.Peer-Reviewed Original ResearchConceptsAmyotrophic lateral sclerosisHealthy controlsMutation carrier groupPrimary lateral sclerosisLateral sclerosisClinical spectrumAmyotrophic lateral sclerosis pathologyPatient groupAsymptomatic carriersCerebral functional connectivityFunctional connectivityIncreased functional connectivityPosterior cingulate cortexPatientsMutations associated with amyotrophic lateral sclerosisResting-state magnetoencephalographyNeuronal oscillationsCingulate cortexCarrier groupCortical functionQuantitative markerNeuroprotective therapeuticsPresymptomatic periodSclerosisMarkers
2016
Altered cortical beta‐band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis
Proudfoot M, Rohenkohl G, Quinn A, Colclough G, Wuu J, Talbot K, Woolrich M, Benatar M, Nobre A, Turner M. Altered cortical beta‐band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis. Human Brain Mapping 2016, 38: 237-254. PMID: 27623516, PMCID: PMC5215611, DOI: 10.1002/hbm.23357.Peer-Reviewed Original ResearchConceptsPrimary lateral sclerosisAmyotrophic lateral sclerosisSensitive marker of disease activityPLS groupMotor cortex of ALS patientsBeta-band oscillationsMarkers of disease activityDevelopment of overt symptomsHealthy control groupALS spectrumAmyotrophic lateral sclerosis patientsAsymptomatic mutation carriersDiffusion tensor imaging studiesBeta desynchronizationSymptomatic patientsLateral sclerosisDisease activityMutation carriersGene mutationsCortical hyperexcitabilityAsymptomatic carriersSensitive markerNeuroprotective strategiesImaging studiesCortical dysfunctionChanges in cortical β-oscillation dynamics across the clinical spectrum of motor neuron disease
Proudfoot M, Rohenkohl G, Gould I, Wuu J, Andersen P, Talbot K, Woolrich M, Benatar M, Nobre A, Turner M. Changes in cortical β-oscillation dynamics across the clinical spectrum of motor neuron disease. The Lancet 2016, 387: s84. DOI: 10.1016/s0140-6736(16)00471-2.Peer-Reviewed Original ResearchAsymptomatic mutation carriersMutation carriersMotor neuron diseaseRelative to controlsAmyotrophic lateral sclerosisDevelopment of overt symptomsPrimary lateral sclerosisSymptomatic patientsLateral sclerosisClinical spectrumMotor cortexContralateral motor cortexHealthy controlsPatientsCortical dysfunctionOvert symptomsBiomarker discoveryGenetic riskNeuron diseaseMEG analysisInhibition trialsSclerosisMEG dataPathologyTrials
2012
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
van Rheenen W, van Blitterswijk M, Huisman M, Vlam L, van Doormaal P, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi A, Raaphorst J, Schelhaas H, van der Pol W, Veldink J, van den Berg L, Weiner M, Aisen P, Petersen R, Clifford R, Jagust W, Trojanowki J, Toga A, Beckett L, Green R, Saykin A, Morris J, Liu E, Montine T, Gamst A, Thomas R, Donohue M, Walter S, Gessert D, Sather T, Beckett L, Harvey D, Gamst A, Donohue M, Kornak J, Dale A, Bernstein M, Felmlee J, Fox N, Thompson P, Schuff N, Alexander G, DeCarli C, Bandy D, Koeppe R, Foster N, Reiman E, Chen K, Mathis C, Cairns N, Taylor-Reinwald L, Shaw L, Lee V, Korecka M, Crawford K, Neu S, Foroud T, Potkin S, Shen L, Kachaturian Z, Frank R, Snyder P, Kaye J, Dolen S, Quinn J, Schneider L, Pawluczyk S, Spann B, Brewer J, Vanderswag H, Heidebrink J, Lord J, Petersen R, Johnson K, S. Doody R, Villanueva-Meyer J, Chowdhury M, Stern Y, Honig L, Bell K, Morris J, Mintun M, Schneider S, Marson D, Griffith R, Clark D, Grossman H, Mitsis E, Romirowsky A, deToledo-Morrell L, Shah R, Duara R, Varon D, Roberts P, Albert M, Onyike C, Kielb S, Rusinek H, de Leon M, Glodzik L, Doraiswamy P, Petrella J, Arnold S, Karlawish J, Wolk D, Smith C, Jicha G, Hardy P, Lopez O, Oakley M, Simpson D, Ismail M, Brand C, Mulnard R, Thai G, Mc-Adams-Ortiz C, Diaz-Arrastia R, Martin-Cook K, DeVous M, Levey A, Lah J, Cellar J, Burns J, Anderson H, Swerdlow R, Bartzokis G, Silverman D, Lu P, Apostolova L, Graff-Radford N, Parfitt F, Johnson H, Farlow M, Herring S, Hake A, van Dyck C, Carson R, MacAvoy M, Chertkow H, Bergman H, Hosein C, Black S, Stefanovic B, Caldwell C, Hsiung G, Feldman H, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Wu C, Johnson N, Mesulam M, Sadowsky C, Martinez W, Villena T, Turner R, Johnson K, Reynolds B, Sperling R, Frey M, Johnson K, Rosen A, Tinklenberg J, Sabbagh M, Belden C, Jacobson S, Killiany R, Norbash A, Obisesan T, Wolday S, Bwayo S, Lerner A, Hudson L, Ogrocki P, DeCarli C, Fletcher E, Carmichael O, Kittur S, Borrie M, Lee T, Bartha R, Johnson S, Asthana S, Carlsson C, Potkin S, Preda A, Nguyen D, Tariot P, Fleisher A, Reeder S, Bates V, Capote H, Rainka M, Hendin B, Scharre D, Kataki M, Zimmerman E, Celmins D, Brown A, Pearlson G, Blank K, Anderson K, Saykin A, Santulli R, Schwartz E, Williamson J, Sink K, Watkins F, Ott B, Querfurth H, Tremont G, Salloway S, Malloy P, Correia S, Rosen H, Miller B, Mintzer J, Longmire C, Spicer K, Kwon S, Kim J, Cho K, Shin D, Ko Y, Lee S, Cha J, Kim Y, Shin D, Jang H, Choi N, Hong S, Rha J, Hong K, Kim E, Choi J, Sohn S, Shin W, HyukHeo S, Chung K, Park J, Lee J, Park J, Park T, Bae H, Han M, Kwon H, Lee K, Lee T, Jeong D, Lee J, Ashwal S, deVeber G, Ferriero D, Fullerton H, Ichord R, Kirkham F, Lynch J, O'Callaghan F, Pavlakis S, Sebire G, Willan A, Willan A, Sofronas M, Dlamini N, Elbers J, Nowak-Göttl U, Düring C, Krümpel A, Plumb P, Journeycake J, van de Bruinhorst K, Gossett D, Hernandez Chavez M, Monagle P, MacKay M, Barnes C, Furmedge J, Gordon A, Benedict S, Bale J, Nielson D, Abdalla A, Chadehumbe M, Kabbouche M, Karti P, Phillips T, Friedman N, Rizkallah E, Zamel K, Wiznitzer M, Lidsky K, Bernard T, Goldenberg N, Armstrong-Wells J, Booth F, Nash M, Beslow L, Carpenter J, Chang T, Weinstein S, Kan L, Smith R, Maytal J, Sy-Kho R, Yager J, Massicotte P, Ashwal S, McClure C, Bjornson B, Hukin J, Bucevska M, Kent S, Riviello J, Rivkin M, Trenor C, Amlie-Lefond C, Whelan H, Ferriero D, Fullerton H, Fox C, Pavlakis S, Goodman S, Levinson K, Kolk A, Laugesaar R, Talvik T, Imam H, Thomas T, Golomb M, Kirton A, Heyer G, Ganesan V, Saengpattrachai M, Crosswell H, Mancuso A, Tatishvili N, Yeh A, Humpherys P, Abraham L, Alveal L, Ortiz M, Altuna D, Maxit C, Gonzalez V, Alam M, Buckley D, Penney S, Jordan L, Grabowski E, Chan A, Deray M, Khatib Z, Kovacevic G, Kosofsky B, Leifer D, Nass R, Wong V, Catsman C, El-Hakam L, Sebire G, Cholette J, Narang S, Lerner N, Carpenter S, Bischoff K, Frei-Jones M, Masur D, Epstein L, Bagiella E, Hinton V, Gallentine W, Rende E, Provenzale J, Voyvodic J, Song A, Conklin T, O'Hara K, Seinfeld S, Conry J, Glauser T, Ayala J, Facchini R, Sigalova M, Hannigan J, Weiss E, Mancini A, Curran J, Ahlm S, Renaldi J, Umanzour D, Kim A, Hamidullah A, Litherland C, Bonner M, Xu Y, Van de Water V, Grasso S, Kushner D, Culbert J, Bush B, Chandrasekaran S, Davis L, Rogers C, Sabo C, Wang H, Noebels J. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012, 79: 878-882. PMID: 22843265, DOI: 10.1212/wnl.0b013e3182661d14.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge of OnsetAgedAged, 80 and overAmyotrophic Lateral SclerosisC9orf72 ProteinCohort StudiesConfidence IntervalsDementiaDNADNA Repeat ExpansionFemaleFrontotemporal Lobar DegenerationGenotypeHumansMaleMiddle AgedMotor Neuron DiseaseMuscular Atrophy, SpinalMutationParkinson DiseasePolymerase Chain ReactionProportional Hazards ModelsProteinsSurvivalYoung AdultConceptsProgressive muscular atrophyPrimary lateral sclerosisAmyotrophic lateral sclerosisSporadic amyotrophic lateral sclerosisParkinson's diseaseShorter survivalLateral sclerosisRelatives of patientsFamilial aggregationRepeat expansionHexanucleotide repeat expansionControl subjectsMotor neuronsLarge cohortPatientsMuscular atrophyGenetic testingEarly onsetMajor causeDementiaC9orf72SclerosisFALSEarly ageDutch descent
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