2024
Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs
Duncan J, Bowman A, Laster A, Gelfman C, Birch D, Boye S, Daiger S, del Priore L, Zack D, Handa J, Board T. Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs. Translational Vision Science & Technology 2024, 13: 28. PMID: 39688851, PMCID: PMC11654773, DOI: 10.1167/tvst.13.12.28.Peer-Reviewed Original ResearchConceptsAge-related macular degenerationInherited retinal degenerationNon-neovascular age-related macular degenerationRetinal degenerationGeographic atrophyMacular degenerationDevelopment of treatmentsIrreversible vision lossTherapies to slow progressionNon-neovascularVision lossUnmet needsDegenerationSlow progressionPatientsTreatmentProgressionAtrophyEarly Detection of Macular Atrophy Automated Through 2D and 3D Unet Deep Learning
Wei W, Patel R, Laponogov I, Cordeiro M, Veselkov K. Early Detection of Macular Atrophy Automated Through 2D and 3D Unet Deep Learning. Bioengineering 2024, 11: 1191. PMID: 39768009, PMCID: PMC11726850, DOI: 10.3390/bioengineering11121191.Peer-Reviewed Original ResearchAge-related macular degenerationOptical coherence tomographyMacular atrophyEarly detectionVolumetric optical coherence tomographyDice similarity coefficient scoreMacular degenerationCoherence tomographyFollow-upMonitoring PatientsPatientsDetection of MAClinical decisionsAtrophyHuman gradersScoresLesionsTomographyEndpointDegenerationEyesNoninvasive Gamma Sensory Stimulation May Reduce White Matter and Myelin Loss in Alzheimer’s Disease
Da X, Hempel E, Ou Y, Rowe O, Malchano Z, Hajós M, Kern R, Megerian J, Cimenser A. Noninvasive Gamma Sensory Stimulation May Reduce White Matter and Myelin Loss in Alzheimer’s Disease. Journal Of Alzheimer’s Disease 2024, 97: 359-372. PMID: 38073386, PMCID: PMC10789351, DOI: 10.3233/jad-230506.Peer-Reviewed Original ResearchConceptsWhite matter atrophyActive treatment participantsMatter atrophyAlzheimer's diseaseMyelin lossTreatment participantsWhite matterNeuronal network functionT2-weighted MRIEarly disease interventionMRI outcomesClinical trialsEntorhinal regionWhite matter structuresHz stimulationMagnetic resonance imaging dataAfferent connectionsInclusion criteriaTherapeutic approachesAtrophySensory stimulationVolume assessmentDisease interventionDiseaseMyelin content
2023
Guidelines for best practices in monitoring established coeliac disease in adult patients
Elli L, Leffler D, Cellier C, Lebwohl B, Ciacci C, Schumann M, Lundin K, Chetcuti Zammit S, Sidhu R, Roncoroni L, Bai J, Lee A, Dennis M, Robert M, Rostami K, Khater S, Comino I, Cebolla A, Branchi F, Verdu E, Stefanolo J, Wolf R, Bergman-Golden S, Trott N, Scudeller L, Zingone F, Scaramella L, Sanders D. Guidelines for best practices in monitoring established coeliac disease in adult patients. Nature Reviews Gastroenterology & Hepatology 2023, 21: 198-215. PMID: 38110546, DOI: 10.1038/s41575-023-00872-2.Peer-Reviewed Original ResearchConceptsCoeliac diseaseLevel of evidenceLife-long gluten-free dietGluten-free dietMucosal atrophyAdult patientsCirculating autoantibodiesFollow-upGenetic predispositionImmunological diseasesRecommendations AssessmentMonitoring PatientsClinical guidelinesEvidence levelPatientsConsumption of glutenDiagnosisDiseaseGuidelinesScientific societiesCEDAutoantibodiesGastroenterologistsAtrophyDecreased Synaptic Vesicle Glycoprotein 2A Binding in the Human Postmortem Essential Tremor Cerebellum: Evidence of Reduction in Synaptic Density
Yang Y, Zheng C, Chen B, Hernandez N, Faust P, Cai Z, Louis E, Matuskey D. Decreased Synaptic Vesicle Glycoprotein 2A Binding in the Human Postmortem Essential Tremor Cerebellum: Evidence of Reduction in Synaptic Density. The Cerebellum 2023, 23: 1053-1060. PMID: 37783917, DOI: 10.1007/s12311-023-01611-8.Peer-Reviewed Original ResearchSynaptic vesicle glycoprotein 2AAge-matched controlsSynaptic densityEssential tremorDentate nucleusCerebellar cortexET casesPilot studyLower synaptic densityPrevalent neurological diseaseNumerous degenerative changesNeuropathological alterationsMild atrophyNeuropathological studiesSynaptic markersMethodsThe current studyPostmortem studiesDegenerative changesNeuroimaging signaturesET patientsNeurological diseasesCerebellumEvidence of reductionCortexAtrophyFactFinders for patient safety: Understanding potential procedure-related complications: RFN/multifidus atrophy, intradiscal biologics, and facet cyst rupture
Nguyen M, Saffarian M, Smith C, Holder E, Lee H, Marshall B, Mattie R, Patel J, Schneider B, McCormick Z, Committee S. FactFinders for patient safety: Understanding potential procedure-related complications: RFN/multifidus atrophy, intradiscal biologics, and facet cyst rupture. Interventional Pain Medicine 2023, 2: 100248. PMID: 39238672, PMCID: PMC11372888, DOI: 10.1016/j.inpm.2023.100248.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsLumbar medial branch radiofrequency neurotomyPotential procedure-related complicationsProcedure-related complicationsMultifidus atrophyCyst ruptureHigh-quality prospective studiesMedial branch radiofrequency neurotomyNerve root compressionRisk of complicationsReports of complicationsCross-sectional imagingRadiofrequency neurotomyRoot compressionProspective studyIntradiscal injectionBiologic interventionsClinical relevanceComplicationsLarger sample sizeAtrophyNatural historyPatient safetyAvailable evidenceComparison groupBiologics
2022
Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy
Gogia N, Ni L, Olmos V, Haidery F, Luttik K, Lim J. Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy. Frontiers In Molecular Neuroscience 2022, 15: 931301. PMID: 35726299, PMCID: PMC9206542, DOI: 10.3389/fnmol.2022.931301.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsBulbar muscular atrophyAR proteinMuscular atrophyBulbar motor neuronsPolymorphic CAG trinucleotide repeatProgressive neuromuscular diseaseMain genetic causeMutant ARMotor neuronsTherapeutic approachesAR functionNeuromuscular diseaseProtective roleDisease pathophysiologyGenetic causeSkeletal muscleDiseaseCAG trinucleotide repeatAtrophySBMACell deathPolyQ tract expansionTractPolyQ disordersPolyglutamine expansionCoherent Activity in EEG Response to Gamma Sensory Stimulation Predicts Positive Outcome in Cognitive and Functional Abilities, and Brain Atrophy in Subjects with Alzheimer’s Disease (P4-6.004)
Cimenser A, Mrozak H, Da X, Travers T, Hempel E, Seshagiri C, Boasso A, Vaughan B, Megerian J, Malchano Z, Hajos M. Coherent Activity in EEG Response to Gamma Sensory Stimulation Predicts Positive Outcome in Cognitive and Functional Abilities, and Brain Atrophy in Subjects with Alzheimer’s Disease (P4-6.004). Neurology 2022, 98 DOI: 10.1212/wnl.98.18_supplement.1799.Peer-Reviewed Original ResearchThe microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P, Acosta M, Adam M, Adams D, Agrawal P, Alejandro M, Alvey J, Amendola L, Andrews A, Ashley E, Azamian M, Bacino C, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs A, Behrens E, Bejerano G, Bennet J, Berg-Rood B, Bernstein J, Berry G, Bican A, Bivona S, Blue E, Bohnsack J, Bonnenmann C, Bonner D, Botto L, Boyd B, Briere L, Brokamp E, Brown G, Burke E, Burrage L, Butte M, Byers P, Byrd W, Carey J, Carrasquillo O, Chang T, Chanprasert S, Chao H, Clark G, Coakley T, Cobban L, Cogan J, Coggins M, Cole F, Colley H, Cooper C, Cope H, Craigen W, Crouse A, Cunningham M, D'Souza P, Dai H, Dasari S, Davids M, Dayal J, Deardorff M, Dell'Angelica E, Dhar S, Dipple K, Doherty D, Dorrani N, Douine E, Draper D, Duncan L, Earl D, Eckstein D, Emrick L, Eng C, Esteves C, Estwick T, Falk M, Fernandez L, Ferreira C, Fieg E, Findley L, Fisher P, Fogel B, Forghani I, Fresard L, GahlIan-Glass W, Godfrey R, Golden-Grant K, Goldman A, Goldstein D, Grajewski A, Groden C, Gropman A, Gutierrez I, Hahn S, Hamid R, Hanchard N, Hassey K, Hayes N, High F, Hing A, Hisama F, Holm I, Hom J, Horike-Pyne M, Huang A, Huang Y, Isasi R, Jamal F, Jarvik G, Jarvik J, Jayadev S, Johnston J, Karaviti L, Kelley E, Kennedy J, Kiley D, Kohane I, Kohler J, Krakow D, Krasnewich D, Kravets E, Korrick S, Koziura M, Krier J, Lalani S, Lam B, Lam C, Lanpher B, Lanza I, Lau C, LeBlanc K, Lee B, Lee H, Levitt R, Lewis R, Lincoln S, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Mak B, Malicdan M, Mamounas L, Manolio T, Mao R, Maravilla K, Markello T, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, McCauley J, McConkie-Rosell A, McCormack C, McCray A, McGee E, Mefford H, Merritt J, Might M, Mirzaa G, Morava E, Moretti P, Morimoto M, Mulvihill J, Murdock D, Nakano-Okuno M, Nath A, Nelson S, Newman J, Nicholas S, Nickerson D, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Palmer C, Papp J, Parker N, Phillips III J, Posey J, Potocki L, Pusey B, Quinlan A, Raskind W, Raja A, Rao D, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rosenwasser N, Ruzhnikov M, Sacco R, Sampson J, Samson S, Saporta M, Scott C, Schaechter J, Schedl T, Schoch K, Scott D, Sharma P, Shashi V, Shin J, Signer R, Sillari C, Silverman E, Sinsheimer J, Sisco K, Smith E, Smith K, Solem E, Solnica-Krezel L, Spillmann R, Stoler J, StongJ N, Sullivan E, Sullivan K, Sun A, Sutton S, Sweetser D, Sybert V, Tabor H, Tamburro C, K-GTan Q, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Tucker B, Urv T, Vanderver A, Velinder M, Viskochil D, Vogel T, Wahl C, Wallace S, Walley N, Walsh C, Walker M, Wambach J, Wan J, Wang L, Wangler M, Ward P, Wegner D, Wener M, Wenger T, Perry K, Westerfield M, Wheeler M, Whitlock J, Wolfe L, Woods J, Yamamoto S, Yang J, Yu G, Zastrow D, Zhao C, Zuchner S, Ariani F, Renieri A, Mari F, Wangler M, Arur S, Jiang Y, Yamamoto S, Shashi V, Bellen H. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics 2022, 31: 2934-2950. PMID: 35405010, PMCID: PMC9433733, DOI: 10.1093/hmg/ddac085.Peer-Reviewed Original ResearchConceptsWhite matter atrophyProgressive neurological disorderDe novo heterozygous variantsNovo heterozygous variantsProfound intellectual disabilityMatter atrophyNervous systemNeurological disordersHeterozygous variantsDysmorphic featuresMissense variantsSevere phenotypeIntellectual disabilityPhenotype characteristicLoss of DroshaLoss of miRNAMiRNA expressionBrain sizeSevere reductionSevere progressive neurological disorderFunctional studiesCauses lossAtrophyEpilepsyCandidate genes
2021
Tau‐Atrophy Variability Reveals Phenotypic Heterogeneity in Alzheimer's Disease
Das S, Lyu X, Duong M, Xie L, McCollum L, Flores R, DiCalogero M, Irwin D, Dickerson B, Nasrallah I, Yushkevich P, Wolk D, Weiner M, Aisen P, Petersen R, Jack C, Jagust W, Trojanowki J, Toga A, Beckett L, Green R, Saykin A, Morris J, Shaw L, Liu E, Montine T, Thomas R, Donohue M, Walter S, Gessert D, Sather T, Jiminez G, Harvey D, Donohue M, Bernstein M, Fox N, Thompson P, Schuff N, DeCArli C, Borowski B, Gunter J, Senjem M, Vemuri P, Jones D, Kantarci K, Ward C, Koeppe R, Foster N, Reiman E, Chen K, Mathis C, Landau S, Cairns N, Householder E, Reinwald L, Lee V, Korecka M, Figurski M, Crawford K, Neu S, Foroud T, Potkin S, Shen L, Kelley F, Kim S, Nho K, Kachaturian Z, Frank R, Snyder P, Molchan S, Kaye J, Quinn J, Lind B, Carter R, Dolen S, Schneider L, Pawluczyk S, Beccera M, Teodoro L, Spann B, Brewer J, Vanderswag H, Fleisher A, Heidebrink J, Lord J, Petersen R, Mason S, Albers C, Knopman D, Johnson K, Doody R, Meyer J, Chowdhury M, Rountree S, Dang M, Stern Y, Honig L, Bell K, Ances B, Morris J, Carroll M, Leon S, Householder E, Mintun M, Schneider S, Oliver A, Marson D, Griffith R, Clark D, Geld‐Macher D, Brockington J, Roberson E, Grossman H, Mitsis E, Toledo‐Morrell L, Shah R, Duara R, Varon D, Greig M, Roberts P, Albert M, Onyike C, D'Agostino D, Kielb S, Galvin J, Pogorelec D, Cerbone B, Michel C, Rusinek H, Leon M, Glodzik L, De Santi S, Doraiswamy P, Petrella J, Wong T, Arnold S, Karlawish J, Wolk D, Smith C, Jicha G, Hardy P, Sinha P, Oates E, Conrad G, Lopez O, Oakley M, Simpson D, Porsteinsson A, Goldstein B, Martin K, Makino K, Ismail M, Brand C, Mulnard R, Thai G, Ortiz C, Womack K, Mathers D, Quiceno M, Arrastia R, King R, Weiner M, Martin Cook K, DeVous M, Levey A, Lah J, Cellar J, Bums J, Anderson H, Swerdlow R, Apostolova L, Tingus K, Woo E, Silverman D, Lu P, Bartzokis G, Graff Radford N, Parfitt F, Kendall T, Johnson H, Farlow M, Hake A, Matthews B, Herring S, Hunt C, Dyck C, Carson R, MacAvoy M, Chertkow H, Bergman H, Hosein C, Black S, Stefanovic B, Caldwell C, Hsiung G, Feldman H, Mudge B, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Kerwin D, Mesulam M, Lipowski K, Wu C, Johnson N, Sadowsky C, Martinez W, Villena T, Turner R, Kathleen Johnson N, Brigid Reynolds N, Sperling R, Johnson K, Marshall G, Frey M, Yesavage J, Taylor J, Lane B, Rosen A, Tinklenberg J, Sabbagh M, Belden C, Jacobson S, Sirrel S, Kowall N, Killiany R, Budson A, Norbash A, Johnson P, Obisesan T, Wolday S, Allard J, Lerner A, Ogrocki P, Hudson L, Fletcher E, Carmichael O, Olichney J, DeCarli C, 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, Scharre D, Kataki M, Adeli A, Zimmerman E, Celmins D, Brown A, Pearlson G, Blank K, Anderson K, Santulli R, Kitzmiller T, Schwartz E, Sink K, Williamson J, Garg P, Watkins F, Ott B, Querfurth H, Tremont G, Salloway S, Malloy P, Correia S, Rosen H, Miller B, Mintzer J, Spicer K, Bachman D, Finger E, Pasternak S, Rachinsky I, Rogers J, Kertesz A, Drost D, Pomara N, Hernando R, Sarrael A, Schultz S, Boles Ponto L, Shim H, Smith K, Relkin N, Chaing G, Raudin L, Smith A, Fargher K, Raj B. Tau‐Atrophy Variability Reveals Phenotypic Heterogeneity in Alzheimer's Disease. Annals Of Neurology 2021, 90: 751-762. PMID: 34617306, PMCID: PMC8841129, DOI: 10.1002/ana.26233.Peer-Reviewed Original ResearchConceptsData-driven subgroupsAlzheimer's diseaseLow atrophyCortical thicknessBrain regionsWhite matter hyperintensity lesionsModulatory factorsAmyloid-positive individualsSubsequent cognitive impairmentLevels of tauGray matter regionsAnn NeurolDownstream neurodegenerationHyperintensity lesionsTau neurofibrillaryTau burdenClinical trialsCognitive impairmentMatter regionsDiseaseMultiple underlying factorsNeurodegenerationAtrophyCohortSUVRHaploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
Webb BD, Evans A, Naidich TP, Bird L, Parikh S, Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Human Mutation 2021, 42: 685-693. PMID: 33783914, PMCID: PMC8162891, DOI: 10.1002/humu.24201.Peer-Reviewed Original ResearchConceptsIntention tremorHead magnetic resonance imagingFunction variantsHypertrophic olivary degenerationCerebellar vermian atrophyMagnetic resonance imagingAtaxia syndromeWhole-exome sequencingVermian atrophyTranscription factor 1Olivary degenerationNervous systemResonance imagingMultiple abnormalitiesFactor 1POU4F1ProbandsSyndromeHypotoniaTremorClass 4De novoIndependent probandsAtrophyNewbornsFecal microbiota transplantation mitigates vaginal atrophy in ovariectomized mice
Huang J, Shan W, Li F, Wang Z, Cheng J, Lu F, Guo E, Beejadhursing R, Xiao R, Liu C, Yang B, Li X, Fu Y, Xi L, Wang S, Ma D, Chen G, Sun C. Fecal microbiota transplantation mitigates vaginal atrophy in ovariectomized mice. Aging 2021, 13: 7589-7607. PMID: 33658399, PMCID: PMC7993734, DOI: 10.18632/aging.202627.Peer-Reviewed Original ResearchConceptsVulvovaginal atrophyFecal microbiota transplantationOvarian functionFemale miceMicrobiota transplantationGut microbiotaVagina of miceMenopause-related symptomsVaginal atrophyEpithelial atrophyHormone therapyEstrogen deficiencyVaginal cellsOvariectomized miceOvariectomized onesVaginal healthFollow-upOld miceCancer patientsAlternative treatmentVaginaMiceModulating gut microbiotaOlder womenAtrophyAcute systemic loss of Mad2 leads to intestinal atrophy in adult mice
Schukken K, Zhu Y, Bakker P, Koster M, Harkema L, Youssef S, de Bruin A, Foijer F. Acute systemic loss of Mad2 leads to intestinal atrophy in adult mice. Scientific Reports 2021, 11: 68. PMID: 33420244, PMCID: PMC7794249, DOI: 10.1038/s41598-020-80169-5.Peer-Reviewed Original ResearchConceptsAdult miceChromosomal instabilitySpindle assembly checkpointSevere intestinal phenotypeSubstantial weight lossEmbryonic lethalityLow proliferation rateP53 inactivationVillous atrophyMouse modelAneuploid cellsIntestinal phenotypeTumor evolutionIntestinal epitheliaIntestinal atrophyTissue-specific fashionMiceProliferation rateWeight lossSpindle assembly checkpoint functionAtrophyEpitheliaAssembly checkpointTissueLethality
2020
Long-term Natural History of Atrophy in Eyes with Choroideremia—A Systematic Review and Meta-analysis of Individual-Level Data
Shen LL, Ahluwalia A, Sun M, Young BK, Grossetta Nardini HK, Del Priore LV. Long-term Natural History of Atrophy in Eyes with Choroideremia—A Systematic Review and Meta-analysis of Individual-Level Data. Ophthalmology Retina 2020, 4: 840-852. PMID: 32362554, PMCID: PMC7415675, DOI: 10.1016/j.oret.2020.03.003.Peer-Reviewed Original ResearchConceptsResidual retinal pigment epitheliumLong-term natural historyHorizontal translation factorFundus autofluorescenceRPE areaNatural historyUntreated eyesSystematic reviewPrognosis Studies toolRisk of biasRetinal pigment epitheliumLog-transformed areaAnatomic endpointsPatient ageRPE changesTreatment trialsDisease progressionAnatomic measuresPigment epitheliumMeta-analysisLiterature databasesIndividual eyesCross-sectional dataChoroideremiaAtrophy
2019
Gray matter integrity predicts white matter network reorganization in multiple sclerosis
Radetz A, Koirala N, Krämer J, Johnen A, Fleischer V, Gonzalez‐Escamilla G, Cerina M, Muthuraman M, Meuth S, Groppa S. Gray matter integrity predicts white matter network reorganization in multiple sclerosis. Human Brain Mapping 2019, 41: 917-927. PMID: 32026599, PMCID: PMC7268008, DOI: 10.1002/hbm.24849.Peer-Reviewed Original ResearchConceptsDeep gray matter volumesGray matter volumeMultiple sclerosisGray matter integrityMatter volumeWhite matter networksEarly relapsing-remitting multiple sclerosisRelapsing-remitting multiple sclerosisTime pointsGray matter atrophyDeep gray matter structuresCognitive performanceMiddle temporal cortexGray matter structuresGray matter regionsDisability progressionBrain stemMatter damageSignificant atrophyMatter atrophyDeep gray matter regionsCortical thicknessTemporal cortexTissue damageAtrophyRECLASSIFICATION OF FUNDUS AUTOFLUORESCENCE PATTERNS SURROUNDING GEOGRAPHIC ATROPHY BASED ON PROGRESSION RATE
Shen LL, Liu F, Nardini HG, Del Priore LV. RECLASSIFICATION OF FUNDUS AUTOFLUORESCENCE PATTERNS SURROUNDING GEOGRAPHIC ATROPHY BASED ON PROGRESSION RATE. Retina 2019, Publish Ahead of Print: &na;. PMID: 30829988, DOI: 10.1097/iae.0000000000002480.Peer-Reviewed Original ResearchConceptsGA progression ratesFAF patternsGeographic atrophyProgression rateHorizontal translation factorFundus autofluorescence patternsDifferent entry timesLesion progression ratesFundus autofluorescenceCochrane LibraryClinical trialsAutofluorescence patternsGroup 2Group 1Group 3Group 4Natural historyAtrophyGroupRadius growth rateYearsEMBASEMEDLINEPubMedA Deep Learning Approach for Automated Detection of Geographic Atrophy from Color Fundus Photographs
Keenan T, Dharssi S, Peng Y, Chen Q, Agrón E, Wong W, Lu Z, Chew E. A Deep Learning Approach for Automated Detection of Geographic Atrophy from Color Fundus Photographs. Ophthalmology 2019, 126: 1533-1540. PMID: 31358385, PMCID: PMC6810830, DOI: 10.1016/j.ophtha.2019.06.005.Peer-Reviewed Original ResearchRelative preservation of facial expression recognition in posterior cortical atrophy.
Pressman PS, Gola K, Shdo SM, Miller BL, Fredericks C, Mielke C, Pelak V, Rankin KP. Relative preservation of facial expression recognition in posterior cortical atrophy. Neurology 2019, 92: e1064-e1071. PMID: 30760634, PMCID: PMC6442010, DOI: 10.1212/wnl.0000000000007075.Peer-Reviewed Original ResearchConceptsPosterior cortical atrophyBehavioral variant frontotemporal dementiaAlzheimer's diseaseCortical atrophyHealthy controlsVariant frontotemporal dementiaObservational studyRelative preservationAffective blindsightBvFTD groupFrontotemporal dementiaPatientsGroup differencesAtrophyGroupDementiaDiseaseThin Skinned: Aged Adipocyte Atrophy Impacts Innate Immunity
Wasko RR, Horsley V. Thin Skinned: Aged Adipocyte Atrophy Impacts Innate Immunity. Trends In Immunology 2019, 40: 175-177. PMID: 30713009, DOI: 10.1016/j.it.2019.01.009.Peer-Reviewed Original Research
2018
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C. Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics 2018, 50: 344-348. PMID: 29483653, PMCID: PMC6309869, DOI: 10.1038/s41588-018-0063-6.Peer-Reviewed Original ResearchConceptsInfantile inflammatory bowel diseaseInflammatory bowel diseaseTGF-β1Bowel diseaseSevere inflammatory bowel diseaseCentral nervous system diseaseNervous system diseasesRole of TGFPosterior leukoencephalopathyIntestinal immunityBrain atrophySystem diseasesTGFB1 geneBiallelic lossImpaired secretionGrowth factorTGF-β familyDiseaseTGF-β1 deficiencyNonredundant roleFunction mutationsPrototypic memberLeukoencephalopathyAtrophyEpilepsy
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