2020
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Amabile S, Jeffries L, McGrath JM, Ji W, Spencer‐Manzon M, Zhang H, Lakhani SA. DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. American Journal Of Medical Genetics Part A 2020, 182: 2049-2057. PMID: 32656949, DOI: 10.1002/ajmg.a.61729.Peer-Reviewed Original ResearchConceptsSpinal muscular atrophyIntellectual disabilityUnrelated patientsSingle-center experienceNew unrelated patientsCenter experienceDYNC1H1 geneCNS disordersCombined disordersCortical developmentDisease-causing variantsVariable syndromeNeuromuscular diseaseNeuromuscular phenotypePatientsMuscular atrophyHeterozygous variantsDYNC1H1Medical literatureCharcot-MarieDisordersType 20Novel variantsPhenotypeReport
2005
Platelet activation in cystic fibrosis
O'Sullivan BP, Linden MD, Frelinger AL, Barnard MR, Spencer-Manzon M, Morris JE, Salem RO, Laposata M, Michelson AD. Platelet activation in cystic fibrosis. Blood 2005, 105: 4635-4641. PMID: 15705796, DOI: 10.1182/blood-2004-06-2098.Peer-Reviewed Original ResearchMeSH KeywordsAdenylyl CyclasesAdolescentAdultAlprostadilAnti-Inflammatory Agents, Non-SteroidalArachidonic AcidBlood PlateletsBlotting, WesternCase-Control StudiesCell MembraneChildCyclic AMPCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorFatty AcidsGenotypeHumansIbuprofenInflammationLeukocytesMonocytesNeutrophilsP-SelectinPlatelet ActivationReverse Transcriptase Polymerase Chain ReactionRNA, MessengerThromboxane A2Time FactorsVitamin EConceptsCystic fibrosisCF patientsCyclic adenosine monophosphatePlatelet activationPlatelet surface P-selectinMonocyte-platelet aggregationNeutrophil-platelet aggregationCystic fibrosis transmembrane conductance regulatorLeukocyte-platelet aggregatesSurface P-selectinLung inflammationPlatelet hyperreactivityPlatelet reactivityPlatelet responsivenessPolymerase chain reactionHealthy controlsPlatelet functionP-selectinNormal platelets