2014
Pulmonary Fibrosis
Murray L, Homer R, Gulati M, Herzog E. Pulmonary Fibrosis. 2014, 2636-2653. DOI: 10.1016/b978-0-12-386456-7.05307-7.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsInterstitial lung diseasePulmonary fibrosisLung fibrosisConnective tissue disease-related interstitial lung diseaseIdiopathic pulmonary fibrosisSalient clinical featuresDistinctive pathological featuresWound healing responseClinical featuresChronic injuryLung diseasePathological featuresCirculating BiomarkersInflammatory responseLung parenchymaCertain therapiesPathogenic mechanismsScar tissueClinical monitoringFibrosisHealing responseFatal natureGenetic formsDiseasePotential role
2013
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. The Yale Journal Of Biology And Medicine 2013, 86: 101-6. PMID: 23483815, PMCID: PMC3584487.Peer-Reviewed Original ResearchConceptsMyotonia congenitaClinical presentationPatient 1Salient clinical featuresCLCN1 geneSarcolemmal chloride conductanceClinical featuresPatient 2Muscle relaxationMuscle biopsyElectrical myotoniaGenetic testingCLCN1 mutationsCongenitaCommon typeNovel mutationsPatientsChloride conductanceRecessive formUnidentified mutationsMyotoniaGene sequencingPresentationMutationsBiopsy
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