2022
TDP-43 Proteinopathy Causes Broad Metabolic Alterations including TCA Cycle Intermediates and Dopamine Levels in Drosophila Models of ALS
Loganathan S, Wilson B, Carey S, Manzo E, Joardar A, Ugur B, Zarnescu D. TDP-43 Proteinopathy Causes Broad Metabolic Alterations including TCA Cycle Intermediates and Dopamine Levels in Drosophila Models of ALS. Metabolites 2022, 12: 101. PMID: 35208176, PMCID: PMC8876928, DOI: 10.3390/metabo12020101.Peer-Reviewed Original ResearchAmyotrophic lateral sclerosisTDP-43 proteinopathyTDP-43Dopamine levelsMotor neuronsMetabolic alterationsModel of ALSMetabolic changesTDP-43 expressionMotor neuron diseaseComplex neurodegenerative disorderGlobal metabolomic profilingTDP-43 aggregationALS patientsDietary interventionDopamine agonistsGlucose toleranceInsulin resistanceNeuron diseaseNeurotransmitter levelsSelective degenerationTricarboxylic acid cycle metabolitesLateral sclerosisLocomotor functionLocomotor dysfunction
2017
Electrodiagnostic studies in the intensive care unit: A comparison study 2 decades later
Ojha A, Zivkovic S, Lacomis D. Electrodiagnostic studies in the intensive care unit: A comparison study 2 decades later. Muscle & Nerve 2017, 57: 772-776. PMID: 29053882, DOI: 10.1002/mus.25998.Peer-Reviewed Original ResearchMotor Neuron Disease
Roy B, Darras B. Motor Neuron Disease. 2017, 199-220. DOI: 10.1007/978-3-319-61361-1_16.Peer-Reviewed Original ResearchNon-5q spinal muscular atrophySpinal muscular atrophyMotor neuronsSurvival motor neuronCompound motor action potential amplitudeProximal 5q SMAMotor action potential amplitudeMotor axon lossAction potential amplitudeMotor neuron diseaseSpinal motor neuronsProgressive muscle weaknessAutosomal recessive disorderHereditary degenerative disordersAxon lossImportant diagnostic toolMuscle weaknessNeuron diseaseClinical severityNeurogenic natureDisease prognosisAtypical casesPotential amplitudeMuscular atrophyDegenerative disordersThe importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
Tan Q, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH. The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. Molecular Case Studies 2017, 3: a002063. PMID: 28729373, PMCID: PMC5701308, DOI: 10.1101/mcs.a002063.Peer-Reviewed Original ResearchConceptsAnterior horn cell diseaseCell diseasePathogenic variantsMotor neuron diseaseBiallelic missense mutationsSpinal muscular atrophyWhole-exome sequencingMotor weaknessRespiratory supportRespiratory difficultyNeuron diseaseMotor phenotypePerinatal periodPrenatal symptomsContracture syndromeMuscle biopsySevere formFetal akinesiaMuscular atrophyDiseaseMRNA exportLethal arthrogryposisTranslation initiationPerinatal lethalityArthrogryposis
2016
Changes 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
2014
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science 2014, 343: 506-511. PMID: 24482476, PMCID: PMC4157572, DOI: 10.1126/science.1247363.Peer-Reviewed Original ResearchConceptsHereditary spastic paraplegiaFurther candidate genesMotor neuron diseaseNeurodegenerative disordersGene discoveryHSP genesGenetic basisCandidate genesNetwork analysisNeuron diseaseCellular transportWhole-exome sequencingNeurodegenerative motor neuron diseaseProgressive age-dependent lossAge-dependent lossGenesMechanistic understandingMotor tract functionCommon neurodegenerative disorderFraction of casesTract functionGenetic diagnosisSpastic paraplegiaGlobal viewDisease
2009
Reticulon-4A (Nogo-A) Redistributes Protein Disulfide Isomerase to Protect Mice from SOD1-Dependent Amyotrophic Lateral Sclerosis
Yang YS, Harel NY, Strittmatter SM. Reticulon-4A (Nogo-A) Redistributes Protein Disulfide Isomerase to Protect Mice from SOD1-Dependent Amyotrophic Lateral Sclerosis. Journal Of Neuroscience 2009, 29: 13850-13859. PMID: 19889996, PMCID: PMC2797811, DOI: 10.1523/jneurosci.2312-09.2009.Peer-Reviewed Original ResearchMeSH KeywordsAlanineAmyotrophic Lateral SclerosisAnimalsChlorocebus aethiopsCOS CellsGlycineMaleMiceMice, CongenicMice, Inbred C57BLMice, KnockoutMice, TransgenicMolecular ChaperonesMyelin ProteinsNeuroprotective AgentsNogo ProteinsProtein Disulfide-IsomerasesSuperoxide DismutaseSuperoxide Dismutase-1Tissue DistributionConceptsAmyotrophic lateral sclerosisLateral sclerosisFatal motor neuron diseaseSubset of patientsALS disease progressionMotor neuron diseaseTransgenic mouse modelPotential therapeutic approachEndoplasmic reticulum stressHomogeneous expression patternNeuron diseaseALS pathophysiologyDisease onsetDisease progressionTherapeutic approachesMouse modelChaperone protein disulfide isomeraseReticulum stressNovel intracellular roleReticulon proteinsMiceSclerosisPatientsUnfolded protein responseNogoA
2006
Protecting Motor Neurons from Toxic Insult by Antagonism of Adenosine A2a and Trk Receptors
Mojsilovic-Petrovic J, Jeong GB, Crocker A, Arneja A, David S, Russell D, Kalb RG. Protecting Motor Neurons from Toxic Insult by Antagonism of Adenosine A2a and Trk Receptors. Journal Of Neuroscience 2006, 26: 9250-9263. PMID: 16957081, PMCID: PMC6674510, DOI: 10.1523/jneurosci.1856-06.2006.Peer-Reviewed Original ResearchConceptsMotor neuronsAmyotrophic lateral sclerosisAdenosine A2A receptorsA2A receptorsBrain-derived neurotrophic factor (BDNF) activationReceptor tyrosine kinase BAbility of BDNFTyrosine kinase BMotor neuron diseaseSrc family kinasesAbnormal axonal transportFamilial motor neuron diseaseDirect kinase inhibitionExcitotoxic insultALS patientsNeuron diseaseAdenosine A2ALateral sclerosisTrk receptorsToxic insultsAxonal transportNeuronsInsultTransactivation pathwayFactor activation
1995
Effects of brain‐derived neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease
Ikeda K, Klinkosz B, Greene T, Cedarbaum J, Wong V, Lindsay R, Mitsumoto H. Effects of brain‐derived neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease. Annals Of Neurology 1995, 37: 505-511. PMID: 7717687, DOI: 10.1002/ana.410370413.Peer-Reviewed Original ResearchConceptsBrain-derived neurotrophic factorMouse motor neuron diseaseWobbler mouse motor neuron diseaseMotor neuron diseaseBDNF treatmentMotor dysfunctionNeurotrophic factorNeuron diseaseVentral rootsMotor neuronsWobbler miceExogenous brain-derived neurotrophic factorAxotomy-induced cell deathHuman brain-derived neurotrophic factorBDNF-treated miceBiceps muscle weightCervical ventral rootsDenervation muscle atrophyExogenous BDNF administrationMotor axon lossRecombinant human brain-derived neurotrophic factorVehicle-treated miceVehicle-treated animalsEnd of treatmentMuscle twitch tensionHistometric effects of ciliary neurotrophic factor in wobbler mouse motor neuron disease
Ikeda K, Wong V, Holmlund T, Greene T, Cedarbaum J, Lindsay R, Mitsumoto H. Histometric effects of ciliary neurotrophic factor in wobbler mouse motor neuron disease. Annals Of Neurology 1995, 37: 47-54. PMID: 7818257, DOI: 10.1002/ana.410370110.Peer-Reviewed Original ResearchConceptsCiliary neurotrophic factorMotor neuron diseaseNeurotrophic factorMotor neuronsHuman ciliary neurotrophic factorNeuron diseaseWobbler miceWobbler mouse motor neuron diseaseMouse motor neuron diseaseCalcitonin gene-related peptideAcute axonal degenerationAxonal branching pointsBiceps muscle weightC5 ventral rootsGene-related peptidePercentage of axonsAtrophied muscle fibersUntreated control groupRat ciliary neurotrophic factorMean muscle fiber diameterMusculocutaneous nerveAxonal degenerationVentral rootsSubcutaneous injectionVacuolar degeneration
1994
Arrest of Motor Neuron Disease in wobbler Mice Cotreated with CNTF and BDNF
Mitsumoto H, Ikeda K, Klinkosz B, Cedarbaum J, Wong V, Lindsay R. Arrest of Motor Neuron Disease in wobbler Mice Cotreated with CNTF and BDNF. Science 1994, 265: 1107-1110. PMID: 8066451, DOI: 10.1126/science.8066451.Peer-Reviewed Original ResearchConceptsBrain-derived neurotrophic factorCiliary neurotrophic factorMotor neuron diseaseNeurotrophic factorNeuron diseaseWobbler miceMotor neuron dysfunctionNeuron dysfunctionDisease progressionSubcutaneous injectionMotor neuronsHistological criteriaAnimal modeAnimal modelsAlternate daysSignaling pathwaysDiseaseMiceCellular signaling pathwaysProgressionDysfunctionFactorsCotreatmentNeuronsAdministrationThe effects of ciliary neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease
Mitsumoto H, Ikeda K, Holmlund T, Greene T, Cedarbaum J, Wong V, Lindsay R. The effects of ciliary neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease. Annals Of Neurology 1994, 36: 142-148. PMID: 8053649, DOI: 10.1002/ana.410360205.Peer-Reviewed Original ResearchConceptsCiliary neurotrophic factorNeurotrophic factorMotor neuron diseaseHuman ciliary neurotrophic factorGrip strengthNeuron diseaseBody weightWobbler mouse motor neuron diseaseMotor neuron disease modelMouse motor neuron diseaseFirst neurotrophic factorMean grip strengthImproved muscle strengthVehicle-treated animalsWeeks of treatmentMuscle twitch tensionSurvival-promoting effectsWobbler mouse modelRat ciliary neurotrophic factorMotor dysfunctionControl miceMuscle strengthDisease progressionMotor neuronsTwitch tension
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